{ "uniprot_canonical_ac": "P05154-1", "uniprot_ac": "P05154", "uniprot_id": "IPSP_HUMAN", "mass": { "chemical_mass": 45675.0, "monoisotopic_mass": 45675.0 }, "refseq": { "ac": "NP_000615", "name": "plasma serine protease inhibitor preproprotein", "summary": "The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000615" }, "gene_names": [ { "name": "SERPINA5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05154", "id": "P05154" }, { "name": "PAI-3; PAI3; PCI; PCI-B; PLANH3; PROCI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000615", "id": "NP_000615" }, { "name": "PCI", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05154", "id": "P05154" }, { "name": "PLANH3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05154", "id": "P05154" }, { "name": "PROCI", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05154", "id": "P05154" }, { "name": "SERPINA5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000615", "id": "NP_000615" } ], "protein_names": [ { "name": "Plasma serine protease inhibitor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05154" }, { "name": "Acrosomal serine protease inhibitor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05154" }, { "name": "PAI-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05154" }, { "name": "PAI3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05154" }, { "name": "PCI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05154" }, { "name": "Plasminogen activator inhibitor 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05154" }, { "name": "Protein C inhibitor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05154" }, { "name": "Serpin A5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05154" }, { "name": "plasma serine protease inhibitor preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000615", "id": "NP_000615" }, { "name": "serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5; plasma serine protease inhibitor; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5; plasminogen activator inhibitor III; plasminogen activator inhibitor-3; acrosomal serine protease inhibitor; protein C inhibitor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000615", "id": "NP_000615" } ], "function": [ { "annotation": "ANXA2, SP17, SERPINA5, PRDX2 genes, and sperm DNA fragmentation differentially represented in male partners of infertile couples with normal and abnormal sperm parameters.", "evidence": [ { "database": "RefSeq", "id": "NP_000615", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000615" }, { "database": "PubMed", "id": "36177795", "url": "https://glygen.org/publication/PubMed/36177795" } ] }, { "annotation": "Heparin-dependent serine protease inhibitor acting in body fluids and secretions. Inactivates serine proteases by binding irreversibly to their serine activation site. Involved in the regulation of intravascular and extravascular proteolytic activities. Plays hemostatic roles in the blood plasma. Acts as a procoagulant and pro-inflammatory factor by inhibiting the anticoagulant activated protein C factor as well as the generation of activated protein C factor by the thrombin/thrombomodulin complex. Acts as an anticoagulant factor by inhibiting blood coagulation factors like prothrombin, factor XI, factor Xa, plasma kallikrein and fibrinolytic enzymes such as tissue- and urinary-type plasminogen activators. In seminal plasma, inactivates several serine proteases implicated in the reproductive system. Inhibits the serpin acrosin; indirectly protects component of the male genital tract from being degraded by excessive released acrosin. Inhibits tissue- and urinary-type plasminogen activator, prostate-specific antigen and kallikrein activities; has a control on the sperm motility and fertilization. Inhibits the activated protein C-catalyzed degradation of SEMG1 and SEMG2; regulates the degradation of semenogelin during the process of transfer of spermatozoa from the male reproductive tract into the female tract. In urine, inhibits urinary-type plasminogen activator and kallikrein activities. Inactivates membrane-anchored serine proteases activities such as MPRSS7 and TMPRSS11E. Inhibits urinary-type plasminogen activator-dependent tumor cell invasion and metastasis. May also play a non-inhibitory role in seminal plasma and urine as a hydrophobic hormone carrier by its binding to retinoic acid.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154#function" }, { "database": "PubMed", "id": "15140131", "url": "https://glygen.org/publication/PubMed/15140131" }, { "database": "PubMed", "id": "8536714", "url": "https://glygen.org/publication/PubMed/8536714" }, { "database": "PubMed", "id": "9473218", "url": "https://glygen.org/publication/PubMed/9473218" }, { "database": "PubMed", "id": "14696115", "url": "https://glygen.org/publication/PubMed/14696115" }, { "database": "PubMed", "id": "10340997", "url": "https://glygen.org/publication/PubMed/10340997" }, { "database": "PubMed", "id": "7548057", "url": "https://glygen.org/publication/PubMed/7548057" }, { "database": "PubMed", "id": "9510955", "url": "https://glygen.org/publication/PubMed/9510955" }, { "database": "PubMed", "id": "9556620", "url": "https://glygen.org/publication/PubMed/9556620" }, { "database": "PubMed", "id": "2844223", "url": "https://glygen.org/publication/PubMed/2844223" }, { "database": "PubMed", "id": "8665956", "url": "https://glygen.org/publication/PubMed/8665956" }, { "database": "PubMed", "id": "11722589", "url": "https://glygen.org/publication/PubMed/11722589" }, { "database": "PubMed", "id": "18467335", "url": "https://glygen.org/publication/PubMed/18467335" }, { "database": "PubMed", "id": "15328353", "url": "https://glygen.org/publication/PubMed/15328353" }, { "database": "PubMed", "id": "3501295", "url": "https://glygen.org/publication/PubMed/3501295" }, { "database": "PubMed", "id": "15853774", "url": "https://glygen.org/publication/PubMed/15853774" }, { "database": "PubMed", "id": "7521127", "url": "https://glygen.org/publication/PubMed/7521127" }, { "database": "PubMed", "id": "6323392", "url": "https://glygen.org/publication/PubMed/6323392" }, { "database": "PubMed", "id": "1725227", "url": "https://glygen.org/publication/PubMed/1725227" } ] }, { "annotation": "SERPINA5 promotes tumour cell proliferation by modulating the PI3K/AKT/mTOR signalling pathway in gastric cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_000615", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000615" }, { "database": "PubMed", "id": "36000536", "url": "https://glygen.org/publication/PubMed/36000536" } ] }, { "annotation": "The SERPINA5 coding variant E228Q does not contribute to clinicopathologic characteristics in Alzheimer's disease: A cross-sectional study.", "evidence": [ { "database": "RefSeq", "id": "NP_000615", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000615" }, { "database": "PubMed", "id": "37327267", "url": "https://glygen.org/publication/PubMed/37327267" } ] }, { "annotation": "The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012].", "evidence": [ { "database": "RefSeq", "id": "NP_000615", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000615" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs6120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6120" }, { "id": "rs6120", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6120" }, { "id": "rs6120", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs6120#frequency_tab" }, { "id": "rs6120", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs6120" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 121, "end_pos": 121, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQP->NQS).", "chr_id": "14", "chr_pos": "94587723", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs6120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6120" }, { "id": "rs6120", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs6120" }, { "id": "rs6120", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs6120#frequency_tab" }, { "id": "rs6120", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs6120" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 121, "end_pos": 121, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQP->NQT).", "chr_id": "14", "chr_pos": "94587723", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P121", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs202233497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202233497" }, { "id": "rs202233497", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202233497" }, { "id": "rs202233497", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202233497#frequency_tab" }, { "id": "rs202233497", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202233497" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 203, "end_pos": 203, "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYI->NYS).", "chr_id": "14", "chr_pos": "94587970", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I203", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05154", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05154" } ], "glycoeffect": [], "start_pos": 21, "end_pos": 21, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "94587424", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R21", "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": "" } ] }, { "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": "" } ] }, { "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": "rs995939166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs995939166" }, { "id": "rs995939166", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs995939166#frequency_tab" }, { "id": "rs995939166", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs995939166" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 249, "end_pos": 249, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->KLS).", "chr_id": "14", "chr_pos": "94590168", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N249", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1175616656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1175616656" }, { "id": "rs1175616656", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1175616656#frequency_tab" }, { "id": "rs1175616656", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1175616656" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 251, "end_pos": 251, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLA).", "chr_id": "14", "chr_pos": "94590172", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S251", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05154", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05154" }, { "id": "rs750522516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750522516" }, { "id": "rs750522516", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750522516" }, { "id": "rs750522516", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750522516" }, { "id": "rs750522516", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs750522516#frequency_tab" }, { "id": "rs750522516", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs750522516" }, { "id": "22941189", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22941189" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 264, "end_pos": 264, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NAT->NAM).", "chr_id": "14", "chr_pos": "94590212", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T264", "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": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "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 mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] }, { "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", "ebi" ] }, { "evidence": [ { "id": "P05154", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05154" } ], "glycoeffect": [], "start_pos": 27, "end_pos": 27, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "M", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "14", "chr_pos": "94587443", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "M27", "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" } ] }, { "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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1424661737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1424661737" }, { "id": "rs1424661737", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1424661737" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 338, "end_pos": 338, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHS->KHS).", "chr_id": "14", "chr_pos": "94590872", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N338", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1021860157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1021860157" }, { "id": "rs1021860157", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1021860157#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 338, "end_pos": 338, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHS->SHS).", "chr_id": "14", "chr_pos": "94590871", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N338", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05154", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05154" }, { "id": "rs1224082103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224082103" }, { "id": "rs1224082103", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224082103" }, { "id": "rs1224082103", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1224082103#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 39, "end_pos": 39, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->M).", "chr_id": "14", "chr_pos": "94587478", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T39", "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": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1298983892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1298983892" }, { "id": "rs1298983892", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1298983892" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 47, "end_pos": 47, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFT->NFT).", "chr_id": "14", "chr_pos": "94587501", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D47", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05154", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05154" }, { "id": "rs372991959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372991959" }, { "id": "rs372991959", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372991959" }, { "id": "rs372991959", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372991959#frequency_tab" }, { "id": "rs372991959", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372991959" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 62, "end_pos": 62, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SQS->NQS).", "chr_id": "14", "chr_pos": "94587547", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S62", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi" ] } ], "mutagenesis": [ { "start_pos": 248, "end_pos": 248, "sequence_org": "R", "sequence_mut": "E", "comment": "Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Strongly reduces the rate of thrombin inhibition in the presence of heparin.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "18974053", "url": "https://glygen.org/publication/PubMed/18974053" } ] }, { "start_pos": 253, "end_pos": 253, "sequence_org": "R", "sequence_mut": "E", "comment": "Inhibits strongly thrombomodulin-enhanced rate of thrombin inhibition in presence of heparin.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "18362344", "url": "https://glygen.org/publication/PubMed/18362344" } ] }, { "start_pos": 272, "end_pos": 272, "sequence_org": "E", "sequence_mut": "K", "comment": "Does not inhibit thrombomodulin-enhanced rate of thrombin inhibition in presence of heparin.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "18362344", "url": "https://glygen.org/publication/PubMed/18362344" } ] }, { "start_pos": 274, "end_pos": 274, "sequence_org": "K", "sequence_mut": "E", "comment": "Does not inhibit thrombomodulin-enhanced rate of thrombin inhibition in presence of heparin.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "18362344", "url": "https://glygen.org/publication/PubMed/18362344" } ] }, { "start_pos": 285, "end_pos": 285, "sequence_org": "K", "sequence_mut": "E", "comment": "Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Does not inhibit thrombomodulin-enhanced rate of thrombin inhibition in presence of heparin.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "18362344", "url": "https://glygen.org/publication/PubMed/18362344" }, { "database": "PubMed", "id": "18974053", "url": "https://glygen.org/publication/PubMed/18974053" } ] }, { "start_pos": 288, "end_pos": 288, "sequence_org": "R", "sequence_mut": "E", "comment": "Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Does not inhibit thrombomodulin-enhanced rate of thrombin inhibition in presence of heparin.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "18362344", "url": "https://glygen.org/publication/PubMed/18362344" }, { "database": "PubMed", "id": "18974053", "url": "https://glygen.org/publication/PubMed/18974053" } ] }, { "start_pos": 289, "end_pos": 289, "sequence_org": "K", "sequence_mut": "E", "comment": "Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Inhibits weakly thrombomodulin-enhanced rate of thrombin inhibition in presence of heparin.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "18362344", "url": "https://glygen.org/publication/PubMed/18362344" }, { "database": "PubMed", "id": "18974053", "url": "https://glygen.org/publication/PubMed/18974053" } ] }, { "start_pos": 292, "end_pos": 292, "sequence_org": "K", "sequence_mut": "E", "comment": "Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Does not inhibit thrombomodulin-enhanced rate of thrombin inhibition in presence of heparin.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "18362344", "url": "https://glygen.org/publication/PubMed/18362344" }, { "database": "PubMed", "id": "18974053", "url": "https://glygen.org/publication/PubMed/18974053" } ] }, { "start_pos": 360, "end_pos": 360, "sequence_org": "T", "sequence_mut": "R", "comment": "Inhibits heterodimer formation with TMPRSS11E.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "15328353", "url": "https://glygen.org/publication/PubMed/15328353" } ] }, { "start_pos": 371, "end_pos": 371, "sequence_org": "T", "sequence_mut": "R", "comment": "Increases inhibition of activated protein C/F5 and factor XI/F11 activities. Decreases inhibition of thrombin activity.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "7548057", "url": "https://glygen.org/publication/PubMed/7548057" } ] }, { "start_pos": 372, "end_pos": 372, "sequence_org": "F", "sequence_mut": "G", "comment": "Increases inhibition of thrombin activity.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "7548057", "url": "https://glygen.org/publication/PubMed/7548057" } ] }, { "start_pos": 372, "end_pos": 372, "sequence_org": "F", "sequence_mut": "P", "comment": "Increases inhibition of thrombin activity.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "7548057", "url": "https://glygen.org/publication/PubMed/7548057" } ] }, { "start_pos": 373, "end_pos": 373, "sequence_org": "R", "sequence_mut": "P", "comment": "Increases inhibition of thrombin activity. Inhibits heterodimer formation with TMPRSS11E.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "7548057", "url": "https://glygen.org/publication/PubMed/7548057" }, { "database": "PubMed", "id": "15328353", "url": "https://glygen.org/publication/PubMed/15328353" } ] }, { "start_pos": 376, "end_pos": 376, "sequence_org": "R", "sequence_mut": "P", "comment": "Does not change inhibition of thrombin, activated protein C/F5 and factor XI/F11 activities.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "7548057", "url": "https://glygen.org/publication/PubMed/7548057" } ] }, { "start_pos": 381, "end_pos": 381, "sequence_org": "R", "sequence_mut": "E", "comment": "Does not inhibit thrombomodulin-enhanced rate of thrombin inhibition in presence of heparin.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "18362344", "url": "https://glygen.org/publication/PubMed/18362344" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188488", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188488" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "63.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188488", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188488" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "81.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188488", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188488" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "64.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188488", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188488" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "75.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188488", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188488" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "71.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188488", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188488" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "59.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188488", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188488" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "65.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188488", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188488" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "71.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188488", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188488" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "57.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188488", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188488" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188488", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188488" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "74.92", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188488", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188488" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188488", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188488" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P05154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05154" } ], "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": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "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 mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P05154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05154" } ], "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P05154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05154" } ], "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" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P05154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05154" } ], "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": "P05154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05154" } ], "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": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P05154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05154" } ], "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": "P05154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05154" } ], "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": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P05154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05154" } ], "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": "P05154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05154" } ], "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": "P05154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05154" } ], "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": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P05154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05154" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P05154", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P05154" } ], "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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "common_name": "Human" } ], "gene": [ { "name": "SERPINA5", "url": "https://www.uniprot.org/uniprot/P05154", "locus": { "chromosome": "14", "start_pos": 36677, "end_pos": 24985, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_644", "url": "https://www.ensembl.org/id/LRG_644" } ] } } ], "crossref": [ { "id": "ENSG00000188488", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188488", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P05154", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05154", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd19553", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd19553", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "SERPINA5", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SERPINA5", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "5104", "url": "https://www.ncbi.nlm.nih.gov/gene/5104", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "663", "url": "https://glyconnect.expasy.org/browser/proteins/663", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "8723", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8723", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P05154", "url": "https://www.ebi.ac.uk/intact/interactors/id:P05154*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000215", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000215", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023795", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023795", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023796", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023796", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036186", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036186", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042178", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042178", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042185", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042185", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5104", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5104", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "601841", "url": "http://www.omim.org/entry/601841", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P05154", "url": "https://www.nextprot.org/entry/NX_P05154", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "QVPMMNR", "url": "https://omabrowser.org/oma/group/QVPMMNR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3218836at2759", "url": "http://www.orthodb.org/?query=3218836at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11461", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11461", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11461:SF274", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11461:SF274", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1LQ8", "url": "https://www.rcsb.org/structure/1LQ8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2HI9", "url": "https://www.rcsb.org/structure/2HI9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2OL2", "url": "https://www.rcsb.org/structure/2OL2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3DY0", "url": "https://www.rcsb.org/structure/3DY0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00079", "url": "http://pfam.xfam.org/family/PF00079", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P05154", "url": "https://pharos.nih.gov/targets/P05154", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000053460", "url": "https://proconsortium.org/app/entry/PR:000053460", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053461", "url": "https://proconsortium.org/app/entry/PR:000053461", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053462", "url": "https://proconsortium.org/app/entry/PR:000053462", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053463", "url": "https://proconsortium.org/app/entry/PR:000053463", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053464", "url": "https://proconsortium.org/app/entry/PR:000053464", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053465", "url": "https://proconsortium.org/app/entry/PR:000053465", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P05154", "url": "http://purl.obolibrary.org/obo/PR_P05154", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000615", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000615", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P05154", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "G3V264", "url": "https://www.uniprot.org/uniprot/G3V264", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V264-1", "url": "https://www.uniprot.org/uniprot/G3V264-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V265", "url": "https://www.uniprot.org/uniprot/G3V265", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V265-1", "url": "https://www.uniprot.org/uniprot/G3V265-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2M1", "url": "https://www.uniprot.org/uniprot/G3V2M1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V2M1-1", "url": "https://www.uniprot.org/uniprot/G3V2M1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3F5", "url": "https://www.uniprot.org/uniprot/G3V3F5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3F5-1", "url": "https://www.uniprot.org/uniprot/G3V3F5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3Y3", "url": "https://www.uniprot.org/uniprot/G3V3Y3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V3Y3-1", "url": "https://www.uniprot.org/uniprot/G3V3Y3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V482", "url": "https://www.uniprot.org/uniprot/G3V482", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V482-1", "url": "https://www.uniprot.org/uniprot/G3V482-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V4B4", "url": "https://www.uniprot.org/uniprot/G3V4B4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V4B4-1", "url": "https://www.uniprot.org/uniprot/G3V4B4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P05154-1", "url": "https://www.uniprot.org/uniprot/P05154-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQLFLLLCLVLLSPQGASLHRHHPREMKKRVEDLHVGATVAPSSRRDFTFDLYRALASAAPSQSIFFSPVSISMSLAMLSLGAGSSTKMQILEGLGLNLQKSSEKELHRGFQQLLQELNQPRDGFQLSLGNALFTDLVVDLQDTFVSAMKTLYLADTFPTNFRDSAGAMKQINDYVAKQTKGKIVDLLKNLDSNAVVIMVNYIFFKAKWETSFNHKGTQEQDFYVTSETVVRVPMMSREDQYHYLLDRNLSCRVVGVPYQGNATALFILPSEGKMQQVENGLSEKTLRKWLKMFKKRQLELYLPKFSIEGSYQLEKVLPSLGISNVFTSHADLSGISNHSNIQVSEMVHKAVVEVDESGTRAAAATGTIFTFRSARLNSQRLVFNRPFLMFIVDNNILFLGKVNRP", "length": 406, "header": "sp|P05154-1|IPSP_HUMAN Isoform 1 of Plasma serine protease inhibitor OS=Homo sapiens OX=9606 GN=SERPINA5 PE=1 SV=3 CANONICAL=P05154-1" }, "isoforms": [ { "isoform_ac": "G3V264-1", "url": "", "sequence": { "sequence": "MQLFLLLCLVLLSPQGASLHRHHPREMKKRVEDLHVGATVAPSSRRDFTFDLYRALASAAPSQSIFFSPVSISMSLAMLSLGAGSSTKMQILEGLGLNLQKSSEKELHRGFQQLLQELNQPRDGFQLSLGNALFTDLVVDLQDTFVSAMKTLYLADTFPTNFRDSAGAMKQI", "length": 172, "header": "tr|G3V264-1|G3V264_HUMAN Computationally mapped isoform of Serpin family A member 5 OS=Homo sapiens OX=9606 GN=SERPINA5 PE=1 SV=1 CANONICAL=P05154-1" }, "locus": { "chromosome": "14", "start_pos": 94587878, "end_pos": 94587363, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554220.5", "url": "https://www.ensembl.org/id/ENST00000554220.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450484.1", "url": "https://www.ensembl.org/id/ENSP00000450484.1" } ] } }, { "isoform_ac": "G3V265-1", "url": "", "sequence": { "sequence": "MQLFLLLCLVLLSPQGASLHRHHPREMKKRVEDLHVGATVAPSSRRDFTFDLYRALASAAPSQSIFFSPVSISMSLAMLSLGAGSSTKMQILEGLGLNLQKSSEKELHRGFQQLLQELNQPRDGFQLSLGNALFTDLVVDLQDTFVSAMKTLYLADT", "length": 157, "header": "tr|G3V265-1|G3V265_HUMAN Computationally mapped isoform of Serpin family A member 5 OS=Homo sapiens OX=9606 GN=SERPINA5 PE=1 SV=1 CANONICAL=P05154-1" }, "locus": { "chromosome": "14", "start_pos": 94587833, "end_pos": 94587363, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000557598.1", "url": "https://www.ensembl.org/id/ENST00000557598.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000450485.1", "url": "https://www.ensembl.org/id/ENSP00000450485.1" } ] } }, { "isoform_ac": "G3V2M1-1", "url": "", "sequence": { "sequence": "MQLFLLLCLVLLSPQGASLHRHHPREMKKRVEDLHVGATVAPSSRRDFTFDLYRALASAAPSQSIFFSPVSISMSLAMLSLGAGSSTKMQILEGLGLNLQKSSEKELHRGFQQLLQELNQPRDGFQLSLGNALFTDLVVDLQDTFVSAMKTLYLADTFPTNFRDSAGAMKQINDYVAKQTKGKIVDLLKNLDSNAVVIMVNYIFFKAKWETSFNHKGTQEQDFYVTSETVV", "length": 231, "header": "tr|G3V2M1-1|G3V2M1_HUMAN Computationally mapped isoform of Serpin family A member 5 OS=Homo sapiens OX=9606 GN=SERPINA5 PE=1 SV=1 CANONICAL=P05154-1" }, "locus": { "chromosome": "14", "start_pos": 94590114, "end_pos": 94587363, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556775.5", "url": "https://www.ensembl.org/id/ENST00000556775.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000450745.1", "url": "https://www.ensembl.org/id/ENSP00000450745.1" } ] } }, { "isoform_ac": "G3V3F5-1", "url": "", "sequence": { "sequence": "MQLFLLLCLVLLSPQGASLHRHHPREMKKRVEDLHVGATVAPSSRRDFTFDLYRALASAAPSQSIFFSPVSISMSLAMLSLGAGSSTKMQ", "length": 90, "header": "tr|G3V3F5-1|IPSP_HUMAN Computationally mapped isoform of Plasma serine protease inhibitor OS=Homo sapiens OX=9606 GN=SERPINA5 PE=1 SV=1 CANONICAL=P05154-1" }, "locus": { "chromosome": "14", "start_pos": 94587632, "end_pos": 94587363, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000553511.1", "url": "https://www.ensembl.org/id/ENST00000553511.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451215.1", "url": "https://www.ensembl.org/id/ENSP00000451215.1" } ] } }, { "isoform_ac": "G3V3Y3-1", "url": "", "sequence": { "sequence": "MQLFLLLCLVLLSPQGASLHRHHP", "length": 24, "header": "tr|G3V3Y3-1|G3V3Y3_HUMAN Computationally mapped isoform of Serpin family A member 5 OS=Homo sapiens OX=9606 GN=SERPINA5 PE=4 SV=1 CANONICAL=P05154-1" }, "locus": { "chromosome": "14", "start_pos": 94587434, "end_pos": 94587363, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000556064.1", "url": "https://www.ensembl.org/id/ENST00000556064.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451487.1", "url": "https://www.ensembl.org/id/ENSP00000451487.1" } ] } }, { "isoform_ac": "G3V482-1", "url": "", "sequence": { "sequence": "MQLFLLLCLVLLSPQGASLHRHHPREMKKRVEDLHVGATVAPSSRRDFTFDLYRALASAAPSQSIFFSPVSISMSLAMLSLGAGSSTKMQILEGLGLNLQKSSEKELHRGFQQLLQELNQPRDGFQLSLGNALFTDLVVDLQDT", "length": 144, "header": "tr|G3V482-1|G3V482_HUMAN Computationally mapped isoform of Serpin family A member 5 OS=Homo sapiens OX=9606 GN=SERPINA5 PE=1 SV=1 CANONICAL=P05154-1" }, "locus": { "chromosome": "14", "start_pos": 94587794, "end_pos": 94587363, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000555681.1", "url": "https://www.ensembl.org/id/ENST00000555681.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000451650.1", "url": "https://www.ensembl.org/id/ENSP00000451650.1" } ] } }, { "isoform_ac": "G3V4B4-1", "url": "", "sequence": { "sequence": "MQLFLLLCLVLLSPQGASLHRHHPREMKKRVEDLHVGATVAPSSRRDFTFDLYRALASAAPSQSIFFSPVSISMSLAMLSLGAGSS", "length": 86, "header": "tr|G3V4B4-1|IPSP_HUMAN Computationally mapped isoform of Plasma serine protease inhibitor OS=Homo sapiens OX=9606 GN=SERPINA5 PE=1 SV=1 CANONICAL=P05154-1" }, "locus": { "chromosome": "14", "start_pos": 94587620, "end_pos": 94587363, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554633.5", "url": "https://www.ensembl.org/id/ENST00000554633.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451697.1", "url": "https://www.ensembl.org/id/ENSP00000451697.1" } ] } }, { "isoform_ac": "P05154-1", "url": "", "sequence": { "sequence": "MQLFLLLCLVLLSPQGASLHRHHPREMKKRVEDLHVGATVAPSSRRDFTFDLYRALASAAPSQSIFFSPVSISMSLAMLSLGAGSSTKMQILEGLGLNLQKSSEKELHRGFQQLLQELNQPRDGFQLSLGNALFTDLVVDLQDTFVSAMKTLYLADTFPTNFRDSAGAMKQINDYVAKQTKGKIVDLLKNLDSNAVVIMVNYIFFKAKWETSFNHKGTQEQDFYVTSETVVRVPMMSREDQYHYLLDRNLSCRVVGVPYQGNATALFILPSEGKMQQVENGLSEKTLRKWLKMFKKRQLELYLPKFSIEGSYQLEKVLPSLGISNVFTSHADLSGISNHSNIQVSEMVHKAVVEVDESGTRAAAATGTIFTFRSARLNSQRLVFNRPFLMFIVDNNILFLGKVNRP", "length": 406, "header": "sp|P05154-1|IPSP_HUMAN Isoform 1 of Plasma serine protease inhibitor OS=Homo sapiens OX=9606 GN=SERPINA5 PE=1 SV=3 CANONICAL=P05154-1" }, "locus": { "chromosome": "14", "start_pos": 94592236, "end_pos": 94587363, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000554866.5", "url": "https://www.ensembl.org/id/ENST00000554866.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000451126.1", "url": "https://www.ensembl.org/id/ENSP00000451126.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 249, "start_aa": "Asn", "end_pos": 249, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn249", "evidence": [ { "id": "P05154", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05154#ptm_processing" }, { "id": "14760718", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/14760718" }, { "id": "18467335", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18467335" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "G00912UN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "P05154@N262", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P05154@N262" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "663", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/663" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G11911BT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "663", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/663" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G12579WK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "663", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/663" }, { "id": "30237853", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "glytoucan_ac": "G12793SR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "663", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/663" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G15169WU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "663", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/663" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G26271XI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "P05154", "database": "UniCarbKB", "url": "" }, { "id": "26791533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26791533" } ] }, { "glytoucan_ac": "G37399XV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "P05154", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G41126SR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "P05154", "database": "UniCarbKB", "url": "" }, { "id": "26791533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26791533" } ] }, { "glytoucan_ac": "G47518TP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "663", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/663" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G47737VJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "P05154@N262", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P05154@N262" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "663", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/663" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G52527GH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "663", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/663" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G59536GA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "663", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/663" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G60923RB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "P05154", "database": "UniCarbKB", "url": "" }, { "id": "26791533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26791533" } ] }, { "glytoucan_ac": "G82463GQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "663", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/663" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G82830MN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "663", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/663" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G87051GH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "P05154", "database": "UniCarbKB", "url": "" }, { "id": "26791533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26791533" } ] }, { "glytoucan_ac": "G93656SY", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "663", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/663" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "P05154", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05154#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "18467335", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18467335" }, { "id": "12575940", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12575940" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "KRVEDLHVGATVAPSSR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 29, "start_aa": "Lys", "end_pos": 45, "end_aa": "Arg", "evidence": [ { "id": "P05154", "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": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "RVEDLHVGATVAPSSR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 30, "start_aa": "Arg", "end_pos": 45, "end_aa": "Arg", "evidence": [ { "id": "P05154", "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": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "RVEDLHVGATVAPSSRR", "relation": "attached", "comment": "", "start_pos": 30, "start_aa": "Arg", "end_pos": 46, "end_aa": "Arg", "evidence": [ { "id": "P05154", "database": "UniCarbKB", "url": "" }, { "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": "VEDLHVGATVAPSSR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 31, "start_aa": "Val", "end_pos": 45, "end_aa": "Arg", "evidence": [ { "id": "P05154", "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": "VEDLHVGATVAPSSRR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 31, "start_aa": "Val", "end_pos": 46, "end_aa": "Arg", "evidence": [ { "id": "P05154", "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": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 338, "start_aa": "Asn", "end_pos": 338, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn338", "evidence": [ { "id": "P05154", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05154#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "18467335", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18467335" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "AAAATGTIFTFR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 362, "start_aa": "Ala", "end_pos": 373, "end_aa": "Arg", "evidence": [ { "id": "P05154", "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": "G29931IJ", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 39, "start_aa": "Thr", "end_pos": 39, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr39", "evidence": [ { "id": "663", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/663" }, { "id": "22171320", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22171320" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 39, "start_aa": "Thr", "end_pos": 39, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr39", "evidence": [ { "id": "P05154", "database": "UniCarbKB", "url": "" }, { "id": "22171320", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22171320" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 39, "start_aa": "Thr", "end_pos": 39, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr39", "evidence": [ { "id": "P05154", "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": 39, "start_aa": "Thr", "end_pos": 39, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr39", "evidence": [ { "id": "P05154", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05154#ptm_processing" }, { "id": "21056543", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21056543" }, { "id": "22171320", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22171320" } ] } ], "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": "P05154", "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": "P05154", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Relocating the active site of activated protein C eliminates the need for its protein S cofactor. A fluorescence resonance energy transfer study.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yegneswaran S, Smirnov MD, Safa O, Esmon NL, Esmon CT, Johnson AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "10026158", "url": "https://glygen.org/publication/PubMed/10026158" } ] }, { "title": "Functionally inactive protein C inhibitor in seminal plasma may be associated with infertility.", "journal": "Molecular human reproduction", "date": "1999-06", "authors": "He S, Lin Y L, Liu Y X", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "10340997", "url": "https://glygen.org/publication/PubMed/10340997" } ] }, { "title": "Characterization of single-nucleotide polymorphisms in coding regions of human genes.", "journal": "Nature genetics", "date": "1999", "authors": "Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "10391209", "url": "https://glygen.org/publication/PubMed/10391209" } ] }, { "title": "Mechanisms for the involvement of high molecular weight kininogen in surface-dependent reactions of Hageman factor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1976", "authors": "Griffin JH, Cochrane CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "1066663", "url": "https://glygen.org/publication/PubMed/1066663" } ] }, { "title": "Thrombin-mediated feedback activation of factor XI on the activated platelet surface is preferred over contact activation by factor XIIa or factor XIa.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Baglia FA, Walsh PN", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "10781579", "url": "https://glygen.org/publication/PubMed/10781579" } ] }, { "title": "The soluble endothelial protein C receptor binds to activated neutrophils: involvement of proteinase-3 and CD11b/CD18.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2000", "authors": "Kurosawa S, Esmon CT, Stearns-Kurosawa DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "11035113", "url": "https://glygen.org/publication/PubMed/11035113" } ] }, { "title": "Factor XII-dependent contact activation on endothelial cells and binding proteins gC1qR and cytokeratin 1.", "journal": "Thrombosis and haemostasis", "date": "2001", "authors": "Joseph K, Shibayama Y, Ghebrehiwet B, Kaplan AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "11204562", "url": "https://glygen.org/publication/PubMed/11204562" } ] }, { "title": "Endothelial cell protein C receptor plays an important role in protein C activation in vivo.", "journal": "Blood", "date": "2001", "authors": "Taylor FB Jr, Peer GT, Lockhart MS, Ferrell G, Esmon CT", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "11238108", "url": "https://glygen.org/publication/PubMed/11238108" } ] }, { "title": "Model for a factor IX activation complex on blood platelets: dimeric conformation of factor XIa is essential.", "journal": "Blood", "date": "2001", "authors": "Gailani D, Ho D, Sun MF, Cheng Q, Walsh PN", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "11342438", "url": "https://glygen.org/publication/PubMed/11342438" } ] }, { "title": "Factor XI binding to the platelet glycoprotein Ib-IX-V complex promotes factor XI activation by thrombin.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Baglia FA, Badellino KO, Li CQ, Lopez JA, Walsh PN", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "11696542", "url": "https://glygen.org/publication/PubMed/11696542" } ] }, { "title": "Binding of retinoic acid by the inhibitory serpin protein C inhibitor.", "journal": "European journal of biochemistry", "date": "2001-11", "authors": "Jerabek I, Zechmeister-Machhart M, Binder B R, Geiger M", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "11722589", "url": "https://glygen.org/publication/PubMed/11722589" } ] }, { "title": "Identification and characterization of prolylcarboxypeptidase as an endothelial cell prekallikrein activator.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Shariat-Madar Z, Mahdi F, Schmaier AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "11830581", "url": "https://glygen.org/publication/PubMed/11830581" } ] }, { "title": "Bivalirudin: a direct thrombin inhibitor.", "journal": "Clinical therapeutics", "date": "2002", "authors": "Gladwell TD", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "11833835", "url": "https://glygen.org/publication/PubMed/11833835" } ] }, { "title": "Factor XII interacts with the multiprotein assembly of urokinase plasminogen activator receptor, gC1qR, and cytokeratin 1 on endothelial cell membranes.", "journal": "Blood", "date": "2002", "authors": "Mahdi F, Madar ZS, Figueroa CD, Schmaier AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "11986212", "url": "https://glygen.org/publication/PubMed/11986212" } ] }, { "title": "Activation of endothelial cell protease activated receptor 1 by the protein C pathway.", "journal": "Science (New York, N.Y.)", "date": "2002", "authors": "Riewald M, Petrovan RJ, Donner A, Mueller BM, Ruf W", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "12052963", "url": "https://glygen.org/publication/PubMed/12052963" } ] }, { "title": "Identification of prolylcarboxypeptidase as the cell matrix-associated prekallikrein activator.", "journal": "FEBS letters", "date": "2002", "authors": "Moreira CR, Schmaier AH, Mahdi F, da Motta G, Nader HB, Shariat-Madar Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "12123826", "url": "https://glygen.org/publication/PubMed/12123826" } ] }, { "title": "Localization of the adhesion receptor glycoprotein Ib-IX-V complex to lipid rafts is required for platelet adhesion and activation.", "journal": "The Journal of experimental medicine", "date": "2002", "authors": "Shrimpton CN, Borthakur G, Larrucea S, Cruz MA, Dong JF, Lopez JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "12391017", "url": "https://glygen.org/publication/PubMed/12391017" } ] }, { "title": "Crystal structure of protein C inhibitor provides insights into hormone binding and heparin activation.", "journal": "Structure (London, England : 1993)", "date": "2003", "authors": "Huntington JA, Kjellberg M, Stenflo J", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154#ptm_processing" }, { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "12575940", "url": "https://glygen.org/publication/PubMed/12575940" } ] }, { "title": "Heparin-induced substrate behavior of antithrombin Cambridge II.", "journal": "Blood", "date": "2003", "authors": "Mushunje A, Zhou A, Carrell RW, Huntington JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "12907439", "url": "https://glygen.org/publication/PubMed/12907439" } ] }, { "title": "The relative priority of prekallikrein and factors XI/XIa assembly on cultured endothelial cells.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Mahdi F, Shariat-Madar Z, Schmaier AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "12944405", "url": "https://glygen.org/publication/PubMed/12944405" } ] }, { "title": "Protein C inhibitor in human body fluids. Seminal plasma is rich in inhibitor antigen deriving from cells throughout the male reproductive system.", "journal": "J. Clin. Invest.", "date": "1992", "authors": "Laurell M, Christensson A, Abrahamsson P A, Stenflo J, Lilja H", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "1372913", "url": "https://glygen.org/publication/PubMed/1372913" } ] }, { "title": "The physiologic basis of assembly and activation of the plasma kallikrein/kinin system.", "journal": "Thrombosis and haemostasis", "date": "2004", "authors": "Schmaier AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "14691562", "url": "https://glygen.org/publication/PubMed/14691562" } ] }, { "title": "Regulation of carcinoma cell invasion by protein C inhibitor whose expression is decreased in renal cell carcinoma.", "journal": "International journal of cancer", "date": "2004-02-10", "authors": "Wakita Toshiaki, Hayashi Tatsuya, Nishioka Junji, Tamaru Hiroshi, Akita Nobuyuki, Asanuma Kunihiro, Kamada Haruhiko, Gabazza Esteban C, Ido Masaru, Kawamura Juichi, Suzuki Koji", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "14696115", "url": "https://glygen.org/publication/PubMed/14696115" } ] }, { "title": "Screening for N-glycosylated proteins by liquid chromatography mass spectrometry.", "journal": "Proteomics", "date": "2004", "authors": "Bunkenborg J, Pilch BJ, Podtelejnikov AV, Wisniewski JR", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154#ptm_processing" }, { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "14760718", "url": "https://glygen.org/publication/PubMed/14760718" } ] }, { "title": "The factor V activation paradox.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Orfeo T, Brufatto N, Nesheim ME, Xu H, Butenas S, Mann KG", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "14982929", "url": "https://glygen.org/publication/PubMed/14982929" } ] }, { "title": "Recombinant prolylcarboxypeptidase activates plasma prekallikrein.", "journal": "Blood", "date": "2004", "authors": "Shariat-Madar Z, Mahdi F, Schmaier AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "14996700", "url": "https://glygen.org/publication/PubMed/14996700" } ] }, { "title": "Characterization of a novel human protein C inhibitor (PCI) gene transgenic mouse useful for studying the role of PCI in physiological and pathological conditions.", "journal": "Journal of thrombosis and haemostasis : JTH", "date": "2004-06", "authors": "Hayashi T, Nishioka J, Kamada H, Asanuma K, Kondo H, Gabazza E C, Ido M, Suzuki K", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "15140131", "url": "https://glygen.org/publication/PubMed/15140131" } ] }, { "title": "Mouse DESC1 is located within a cluster of seven DESC1-like genes and encodes a type II transmembrane serine protease that forms serpin inhibitory complexes.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Hobson JP, Netzel-Arnett S, Szabo R, Rehault SM, Church FC, Strickland DK, Lawrence DA, Antalis TM, Bugge TH", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "15328353", "url": "https://glygen.org/publication/PubMed/15328353" } ] }, { "title": "Matriptase-3 is a novel phylogenetically preserved membrane-anchored serine protease with broad serpin reactivity.", "journal": "The Biochemical journal", "date": "2005", "authors": "Szabo R, Netzel-Arnett S, Hobson JP, Antalis TM, Bugge TH", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "15853774", "url": "https://glygen.org/publication/PubMed/15853774" } ] }, { "title": "Discovery of the novel antithrombotic agent 5-chloro-N-({(5S)-2-oxo-3- [4-(3-oxomorpholin-4-yl)phenyl]-1,3-oxazolidin-5-yl}methyl)thiophene- 2-carboxamide (BAY 59-7939): an oral, direct factor Xa inhibitor.", "journal": "Journal of medicinal chemistry", "date": "2005", "authors": "Roehrig S, Straub A, Pohlmann J, Lampe T, Pernerstorfer J, Schlemmer KH, Reinemer P, Perzborn E", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "16161994", "url": "https://glygen.org/publication/PubMed/16161994" } ] }, { "title": "Characterization of the interaction between the A2 subunit and A1/A3-C1-C2 dimer in human factor VIIIa.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Fay PJ, Smudzin TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "1618828", "url": "https://glygen.org/publication/PubMed/1618828" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "Journal of proteome research", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154#ptm_processing" }, { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "title": "Organization of the gene coding for human protein C inhibitor (plasminogen activator inhibitor-3). Assignment of the gene to chromosome 14.", "journal": "J. Biol. Chem.", "date": "1991", "authors": "Meijers J C, Chung D W", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "1714450", "url": "https://glygen.org/publication/PubMed/1714450" } ] }, { "title": "Functionally active protein C inhibitor/plasminogen activator inhibitor-3 (PCI/PAI-3) is secreted in seminal vesicles, occurs at high concentrations in human seminal plasma and complexes with prostate-specific antigen.", "journal": "Thrombosis research", "date": "1991", "authors": "Espana F, Gilabert J, Estelles A, Romeu A, Aznar J, Cabo A", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "1725227", "url": "https://glygen.org/publication/PubMed/1725227" } ] }, { "title": "Glycoproteins V and Ib-IX form a noncovalent complex in the platelet membrane.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Modderman PW, Admiraal LG, Sonnenberg A, von dem Borne AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "1730602", "url": "https://glygen.org/publication/PubMed/1730602" } ] }, { "title": "Structure of native protein C inhibitor provides insight into its multiple functions.", "journal": "J. Biol. Chem.", "date": "2007", "authors": "Li Wei, Adams Ty E, Kjellberg Margareta, Stenflo Johan, Huntington James A", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "17337440", "url": "https://glygen.org/publication/PubMed/17337440" } ] }, { "title": "The pharmacokinetics, pharmacodynamics and tolerability of dabigatran etexilate, a new oral direct thrombin inhibitor, in healthy male subjects.", "journal": "British journal of clinical pharmacology", "date": "2007", "authors": "Stangier J, Rathgen K, Stahle H, Gansser D, Roth W", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "17506785", "url": "https://glygen.org/publication/PubMed/17506785" } ] }, { "title": "In-vitro profile and ex-vivo anticoagulant activity of the direct thrombin inhibitor dabigatran and its orally active prodrug, dabigatran etexilate.", "journal": "Thrombosis and haemostasis", "date": "2007", "authors": "Wienen W, Stassen JM, Priepke H, Ries UJ, Hauel N", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "17598008", "url": "https://glygen.org/publication/PubMed/17598008" } ] }, { "title": "Activated protein C.", "journal": "Journal of thrombosis and haemostasis : JTH", "date": "2007", "authors": "Griffin JH, Fernandez JA, Gale AJ, Mosnier LO", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "17635713", "url": "https://glygen.org/publication/PubMed/17635713" } ] }, { "title": "Immunolocalization of protein C inhibitor in differentiation of human epidermal keratinocytes.", "journal": "Acta Histochem.", "date": "2007", "authors": "Zhang Cheng, Li Xiling, Lian Xiaohua, Wang Yun, Zeng Yijun, Yang Ke, Yu Jin, Gao Qiangguo, Yang Tian", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "17706750", "url": "https://glygen.org/publication/PubMed/17706750" } ] }, { "title": "Molecular basis of thrombin recognition by protein C inhibitor revealed by the 1.6-A structure of the heparin-bridged complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Li W, Adams TE, Nangalia J, Esmon CT, Huntington JA", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "18362344", "url": "https://glygen.org/publication/PubMed/18362344" } ] }, { "title": "N-glycans and the N terminus of protein C inhibitor affect the cofactor-enhanced rates of thrombin inhibition.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Sun W, Parry S, Panico M, Morris HR, Kjellberg M, Engstrom A, Dell A, Schedin-Weiss S", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154#ptm_processing" }, { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "18467335", "url": "https://glygen.org/publication/PubMed/18467335" } ] }, { "title": "The heparin binding site of protein C inhibitor is protease-dependent.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Li W, Huntington JA", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "18974053", "url": "https://glygen.org/publication/PubMed/18974053" } ] }, { "title": "Human factor VIIIa subunit structure. Reconstruction of factor VIIIa from the isolated A1/A3-C1-C2 dimer and A2 subunit.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Fay PJ, Haidaris PJ, Smudzin TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "1902833", "url": "https://glygen.org/publication/PubMed/1902833" } ] }, { "title": "Discovery of betrixaban (PRT054021), N-(5-chloropyridin-2-yl)-2-(4-(N,N-dimethylcarbamimidoyl)benzamido)-5-methoxybenz amide, a highly potent, selective, and orally efficacious factor Xa inhibitor.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2009", "authors": "Zhang P, Huang W, Wang L, Bao L, Jia ZJ, Bauer SM, Goldman EA, Probst GD, Song Y, Su T, Fan J, Wu Y, Li W, Woolfrey J, Sinha U, Wong PW, Edwards ST, Arfsten AE, Clizbe LA, Kanter J, Pandey A, Park G, Hutchaleelaha A, Lambing JL, Hollenbach SJ, Scarborough RM, Zhu BY", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "19297154", "url": "https://glygen.org/publication/PubMed/19297154" } ] }, { "title": "Inhibition of the thrombin-platelet reactions by DuP 714.", "journal": "Biochemical and biophysical research communications", "date": "1991", "authors": "Chiu AT, Mousa SA, Pease LJ, Roscoe WA, Bozarth JM, Reilly TM, Smith RD, Timmermans PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "1930190", "url": "https://glygen.org/publication/PubMed/1930190" } ] }, { "title": "Location of the disulfide bonds in human coagulation factor XI: the presence of tandem apple domains.", "journal": "Biochemistry", "date": "1991", "authors": "McMullen BA, Fujikawa K, Davie EW", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "1998667", "url": "https://glygen.org/publication/PubMed/1998667" } ] }, { "title": "Activation of human blood coagulation factor XI independent of factor XII. Factor XI is activated by thrombin and factor XIa in the presence of negatively charged surfaces.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Naito K, Fujikawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "2019570", "url": "https://glygen.org/publication/PubMed/2019570" } ] }, { "title": "Binding of human factor VIII to phospholipid vesicles.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Gilbert GE, Furie BC, Furie B", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "2104832", "url": "https://glygen.org/publication/PubMed/2104832" } ] }, { "title": "Further insight into the roles of the glycans attached to human blood protein C inhibitor.", "journal": "Biochemical and biophysical research communications", "date": "2010", "authors": "Sun W, Parry S, Ubhayasekera W, Engstrom A, Dell A, Schedin-Weiss S", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154#ptm_processing" }, { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "21056543", "url": "https://glygen.org/publication/PubMed/21056543" } ] }, { "title": "Kinetics of coagulation factor X activation by platelet-bound factor IXa.", "journal": "Biochemistry", "date": "1990", "authors": "Rawala-Sheikh R, Ahmad SS, Ashby B, Walsh PN", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "2110473", "url": "https://glygen.org/publication/PubMed/2110473" } ] }, { "title": "Analysis of serpin secretion, misfolding, and surveillance in the endoplasmic reticulum.", "journal": "Methods in enzymology", "date": "2011", "authors": "Pan S, Iannotti MJ, Sifers RN", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "21683246", "url": "https://glygen.org/publication/PubMed/21683246" } ] }, { "title": "Elucidating the structural chemistry of glycosaminoglycan recognition by protein C inhibitor.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1990", "authors": "Kuhn L A, Griffin J H, Fisher C L, Greengard J S, Bouma B N, Espa\u00f1a F, Tainer J A", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "2172989", "url": "https://glygen.org/publication/PubMed/2172989" } ] }, { "title": "Evidence for a glycine residue at position 316 in human protein C inhibitor.", "journal": "Thromb. Res.", "date": "1990", "authors": "Meijers J C, Chung D W", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "2173165", "url": "https://glygen.org/publication/PubMed/2173165" } ] }, { "title": "Desirudin: a review of the pharmacology and clinical application for the prevention of deep vein thrombosis.", "journal": "Expert review of cardiovascular therapy", "date": "2011", "authors": "Graetz TJ, Tellor BR, Smith JR, Avidan MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "21932952", "url": "https://glygen.org/publication/PubMed/21932952" } ] }, { "title": "Human urinary glycoproteomics; attachment site specific analysis of N- and O-linked glycosylations by CID and ECD.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Halim A, Nilsson J, Ruetschi U, Hesse C, Larson G", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154#ptm_processing" }, { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "UniCarbKB", "id": "P05154", "url": "" }, { "database": "GlyConnect", "id": "663", "url": "https://glyconnect.expasy.org/browser/proteins/663" } ], "reference": [ { "type": "PubMed", "id": "22171320", "url": "https://glygen.org/publication/PubMed/22171320" } ] }, { "title": "Crystal structures of protease nexin-1 in complex with heparin and thrombin suggest a 2-step recognition mechanism.", "journal": "Blood", "date": "2012", "authors": "Li W, Huntington JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "22618708", "url": "https://glygen.org/publication/PubMed/22618708" } ] }, { "title": "Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer.", "journal": "Nature genetics", "date": "2012", "authors": "Rudin CM, Durinck S, Stawiski EW, Poirier JT, Modrusan Z, Shames DS, Bergbower EA, Guan Y, Shin J, Guillory J, Rivers CS, Foo CK, Bhatt D, Stinson J, Gnad F, Haverty PM, Gentleman R, Chaudhuri S, Janakiraman V, Jaiswal BS, Parikh C, Yuan W, Zhang Z, Koeppen H, Wu TD, Stern HM, Yauch RL, Huffman KE, Paskulin DD, Illei PB, Varella-Garcia M, Gazdar AF, de Sauvage FJ, Bourgon R, Minna JD, Brock MV, Seshagiri S", "evidence": [ { "database": "dbSNP", "id": "rs750522516", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750522516" } ], "reference": [ { "type": "PubMed", "id": "22941189", "url": "https://glygen.org/publication/PubMed/22941189" } ] }, { "title": "A sequential mechanism for exosite-mediated factor IX activation by factor XIa.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Geng Y, Verhamme IM, Messer A, Sun MF, Smith SB, Bajaj SP, Gailani D", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "22961984", "url": "https://glygen.org/publication/PubMed/22961984" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "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": "P05154", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Efficacy and toxicity of factor Xa inhibitors.", "journal": "Journal of pharmacy & pharmaceutical sciences : a publication of the Canadian Society for Pharmaceutical Sciences, Societe canadienne des sciences pharmaceutiques", "date": "2013", "authors": "Bondarenko M, Curti C, Montana M, Rathelot P, Vanelle P", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "23683607", "url": "https://glygen.org/publication/PubMed/23683607" } ] }, { "title": "Clot-bound thrombin is protected from inhibition by heparin-antithrombin III but is susceptible to inactivation by antithrombin III-independent inhibitors.", "journal": "The Journal of clinical investigation", "date": "1990", "authors": "Weitz JI, Hudoba M, Massel D, Maraganore J, Hirsh J", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "2384594", "url": "https://glygen.org/publication/PubMed/2384594" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "The new factor Xa inhibitor: Apixaban.", "journal": "Journal of pharmacology & pharmacotherapeutics", "date": "2014", "authors": "Bhanwra S, Ahluwalia K", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "24554904", "url": "https://glygen.org/publication/PubMed/24554904" } ] }, { "title": "In situ-generated thrombin is the only enzyme that effectively activates factor VIII and factor V in thromboplastin-activated plasma.", "journal": "Blood", "date": "1989", "authors": "Pieters J, Lindhout T, Hemker HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "2502206", "url": "https://glygen.org/publication/PubMed/2502206" } ] }, { "title": "Differential proteolytic activation of factor VIII-von Willebrand factor complex by thrombin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989", "authors": "Hill-Eubanks DC, Parker CG, Lollar P", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "2505252", "url": "https://glygen.org/publication/PubMed/2505252" } ] }, { "title": "The roles of protein C and thrombomodulin in the regulation of blood coagulation.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Esmon CT", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "2538457", "url": "https://glygen.org/publication/PubMed/2538457" } ] }, { "title": "Protein C inhibitor from human plasma: characterization of native and cleaved inhibitor and demonstration of inhibitor complexes with plasma kallikrein.", "journal": "Thromb. Haemost.", "date": "1989", "authors": "Laurell M, Stenflo J", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "2556811", "url": "https://glygen.org/publication/PubMed/2556811" } ] }, { "title": "The regulation of human factor XIIa by plasma proteinase inhibitors.", "journal": "The Journal of biological chemistry", "date": "1985", "authors": "Pixley RA, Schapira M, Colman RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "2578463", "url": "https://glygen.org/publication/PubMed/2578463" } ] }, { "title": "Distribution of plasma kallikrein between C-1 inactivator and alpha 2-macroglobulin in plasma utilizing a new assay for alpha 2-macroglobulin-kallikrein complexes.", "journal": "The Journal of biological chemistry", "date": "1985", "authors": "Harpel PC, Lewin MF, Kaplan AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "2579948", "url": "https://glygen.org/publication/PubMed/2579948" } ] }, { "title": "Edoxaban, a Novel Oral Factor Xa Inhibitor.", "journal": "The Annals of pharmacotherapy", "date": "2015", "authors": "Minor C, Tellor KB, Armbruster AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "25855704", "url": "https://glygen.org/publication/PubMed/25855704" } ] }, { "title": "Factor VIII Is Synthesized in Human Endothelial Cells, Packaged in Weibel-Palade Bodies and Secreted Bound to ULVWF Strings.", "journal": "PloS one", "date": "2015", "authors": "Turner NA, Moake JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "26473492", "url": "https://glygen.org/publication/PubMed/26473492" } ] }, { "title": "N-Glycoproteomics of Human Seminal Plasma Glycoproteins.", "journal": "Journal of proteome research", "date": "2016", "authors": "Saraswat M, Joenvaara S, Tomar AK, Singh S, Yadav S, Renkonen R", "evidence": [ { "database": "UniCarbKB", "id": "P05154", "url": "" } ], "reference": [ { "type": "PubMed", "id": "26791533", "url": "https://glygen.org/publication/PubMed/26791533" } ] }, { "title": "High-resolution NMR studies of fibrinogen-like peptides in solution: interaction of thrombin with residues 1-23 of the A alpha chain of human fibrinogen.", "journal": "Biochemistry", "date": "1989", "authors": "Ni F, Konishi Y, Frazier RB, Scheraga HA, Lord ST", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "2742826", "url": "https://glygen.org/publication/PubMed/2742826" } ] }, { "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": "P05154", "url": "" } ], "reference": [ { "type": "PubMed", "id": "28035807", "url": "https://glygen.org/publication/PubMed/28035807" } ] }, { "title": "Purification and properties of prolylcarboxypeptidase (angiotensinase C) from human kidney.", "journal": "The Journal of biological chemistry", "date": "1978", "authors": "Odya CE, Marinkovic DV, Hammon KJ, Stewart TA, Erdos EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "28321", "url": "https://glygen.org/publication/PubMed/28321" } ] }, { "title": "Inactivation of human plasma kallikrein and factor XIa by protein C inhibitor.", "journal": "Biochemistry", "date": "1988", "authors": "Meijers JC, Kanters DH, Vlooswijk RA, van Erp HE, Hessing M, Bouma BN", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "2844223", "url": "https://glygen.org/publication/PubMed/2844223" } ] }, { "title": "Regulation of formation of factor XIIIa by its fibrin substrates.", "journal": "Biochemistry", "date": "1985", "authors": "Lewis SD, Janus TJ, Lorand L, Shafer JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "2866798", "url": "https://glygen.org/publication/PubMed/2866798" } ] }, { "title": "An update on factor XI structure and function.", "journal": "Thrombosis research", "date": "2018", "authors": "Mohammed BM, Matafonov A, Ivanov I, Sun MF, Cheng Q, Dickeson SK, Li C, Sun D, Verhamme IM, Emsley J, Gailani D", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "29223926", "url": "https://glygen.org/publication/PubMed/29223926" } ] }, { "title": "Large-scale intact glycopeptide identification by Mascot database search.", "journal": "Scientific reports", "date": "2018", "authors": "Bollineni RC, Koehler CJ, Gislefoss RE, Anonsen JH, Thiede B", "evidence": [ { "database": "GlyConnect", "id": "663", "url": "https://glyconnect.expasy.org/browser/proteins/663" } ], "reference": [ { "type": "PubMed", "id": "29391424", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "title": "Site-Specific Profiling of Serum Glycoproteins Using N-Linked Glycan and Glycosite Analysis Revealing Atypical N-Glycosylation Sites on Albumin and alpha-1B-Glycoprotein.", "journal": "Analytical chemistry", "date": "2018", "authors": "Sun S, Hu Y, Jia L, Eshghi ST, Liu Y, Shah P, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P05154", "url": "" }, { "database": "GlyConnect", "id": "663", "url": "https://glyconnect.expasy.org/browser/proteins/663" } ], "reference": [ { "type": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "663", "url": "https://glyconnect.expasy.org/browser/proteins/663" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Binding of coagulation factor XI to washed human platelets.", "journal": "Biochemistry", "date": "1986", "authors": "Greengard JS, Heeb MJ, Ersdal E, Walsh PN, Griffin JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "3017409", "url": "https://glygen.org/publication/PubMed/3017409" } ] }, { "title": "Distinct urinary glycoprotein signatures in prostate cancer patients.", "journal": "Oncotarget", "date": "2018", "authors": "Kawahara R, Ortega F, Rosa-Fernandes L, Guimaraes V, Quina D, Nahas W, Schwammle V, Srougi M, Leite KRM, Thaysen-Andersen M, Larsen MR, Palmisano G", "evidence": [ { "database": "GlyConnect", "id": "663", "url": "https://glyconnect.expasy.org/browser/proteins/663" } ], "reference": [ { "type": "PubMed", "id": "30237853", "url": "https://glygen.org/publication/PubMed/30237853" } ] }, { "title": "Characterization of a cDNA for human protein C inhibitor. A new member of the plasma serine protease inhibitor superfamily.", "journal": "J. Biol. Chem.", "date": "1987", "authors": "Suzuki K, Deyashiki Y, Nishioka J, Kurachi K, Akira M, Yamamoto S, Hashimoto S", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "3027058", "url": "https://glygen.org/publication/PubMed/3027058" } ] }, { "title": "Cofactor proteins in the assembly and expression of blood clotting enzyme complexes.", "journal": "Annual review of biochemistry", "date": "1988", "authors": "Mann KG, Jenny RJ, Krishnaswamy S", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "3052293", "url": "https://glygen.org/publication/PubMed/3052293" } ] }, { "title": "Proteolytic processing of human factor VIII. Correlation of specific cleavages by thrombin, factor Xa, and activated protein C with activation and inactivation of factor VIII coagulant activity.", "journal": "Biochemistry", "date": "1986", "authors": "Eaton D, Rodriguez H, Vehar GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "3082357", "url": "https://glygen.org/publication/PubMed/3082357" } ] }, { "title": "Biosynthesis of complement C1 inhibitor by Hep G2 cells. Reactivity of different glycosylated forms of the inhibitor with C1s.", "journal": "The Biochemical journal", "date": "1986", "authors": "Prandini MH, Reboul A, Colomb MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "3099750", "url": "https://glygen.org/publication/PubMed/3099750" } ] }, { "title": "Synthesis, processing, and secretion of recombinant human factor VIII expressed in mammalian cells.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Kaufman RJ, Wasley LC, Dorner AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "3129422", "url": "https://glygen.org/publication/PubMed/3129422" } ] }, { "title": "Association of the factor VIII light chain with von Willebrand factor.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Lollar P, Hill-Eubanks DC, Parker CG", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "3134349", "url": "https://glygen.org/publication/PubMed/3134349" } ] }, { "title": "Completion of the primary structure of human high-molecular-mass kininogen. The amino acid sequence of the entire heavy chain and evidence for its evolution by gene triplication.", "journal": "European journal of biochemistry", "date": "1986", "authors": "Kellermann J, Lottspeich F, Henschen A, Muller-Esterl W", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "3484703", "url": "https://glygen.org/publication/PubMed/3484703" } ] }, { "title": "Inhibition of urokinase by protein C-inhibitor (PCI). Evidence for identity of PCI and plasminogen activator inhibitor 3.", "journal": "Biological chemistry Hoppe-Seyler", "date": "1987", "authors": "Stief TW, Radtke KP, Heimburger N", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "3501295", "url": "https://glygen.org/publication/PubMed/3501295" } ] }, { "title": "Human plasma prekallikrein, a zymogen to a serine protease that contains four tandem repeats.", "journal": "Biochemistry", "date": "1986", "authors": "Chung DW, Fujikawa K, McMullen BA, Davie EW", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "3521732", "url": "https://glygen.org/publication/PubMed/3521732" } ] }, { "title": "Amino acid sequence of human von Willebrand factor.", "journal": "Biochemistry", "date": "1986", "authors": "Titani K, Kumar S, Takio K, Ericsson LH, Wade RD, Ashida K, Walsh KA, Chopek MW, Sadler JE, Fujikawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "3524673", "url": "https://glygen.org/publication/PubMed/3524673" } ] }, { "title": "SERPINA5 promotes tumour cell proliferation by modulating the PI3K/AKT/mTOR signalling pathway in gastric cancer.", "journal": "Journal of cellular and molecular medicine", "date": "2022", "authors": "Fan M, Xiong X, Han L, Zhang L, Gao S, Liu L, Wang X, Huang C, Tong D, Yang J, Zhao L, Shao Y", "evidence": [ { "database": "RefSeq", "id": "NP_000615", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000615" } ], "reference": [ { "type": "PubMed", "id": "36000536", "url": "https://glygen.org/publication/PubMed/36000536" } ] }, { "title": "ANXA2, SP17, SERPINA5, PRDX2 genes, and sperm DNA fragmentation differentially represented in male partners of infertile couples with normal and abnormal sperm parameters.", "journal": "Andrologia", "date": "2022-11", "authors": "Afsari Maliheh, Fesahat Farzaneh, Talebi Ali Reza, Agarwal Ashok, Henkel Ralf, Zare Fatemeh, G\u00fcl Murat, Iraci Nunzio, Cannarella Rossella, Makki Masoud, Anvari Morteza, Sarcheshmeh Abolghsem Abbasi, Talebi Amir Hossein", "evidence": [ { "database": "RefSeq", "id": "NP_000615", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000615" } ], "reference": [ { "type": "PubMed", "id": "36177795", "url": "https://glygen.org/publication/PubMed/36177795" } ] }, { "title": "The SERPINA5 coding variant E228Q does not contribute to clinicopathologic characteristics in Alzheimer's disease: A cross-sectional study.", "journal": "Medicine", "date": "2023-06-16", "authors": "Matchett Billie J, Lincoln Sarah J, Baker Matt, Tamvaka Nikoleta, Labuzan Sydney A, Hicks Sirmans Tiffany N, Moloney Christina M, Helminger Jacqueline, Hinkle Kelly M, Cabrera-Rodriguez Janisse, Wickland Daniel P, Johnson Patrick W, Heckman Michael G, Reddy Joseph S, Younkin Steven G, Carrasquillo Minerva M, Duara Ranjan, Graff-Radford Neill R, Pottier Cyril, Ertekin-Taner Nil\u00fcfer, Ross Owen A, Rademakers Rosa, Dickson Dennis W, Murray Melissa E", "evidence": [ { "database": "RefSeq", "id": "NP_000615", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000615" } ], "reference": [ { "type": "PubMed", "id": "37327267", "url": "https://glygen.org/publication/PubMed/37327267" } ] }, { "title": "Expression, purification, and characterization of recombinant gamma-carboxylated factor IX synthesized in Chinese hamster ovary cells.", "journal": "The Journal of biological chemistry", "date": "1986", "authors": "Kaufman RJ, Wasley LC, Furie BC, Furie B, Shoemaker CB", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "3733688", "url": "https://glygen.org/publication/PubMed/3733688" } ] }, { "title": "Heparin and its low molecular weight derivatives: anticoagulant and antithrombotic properties.", "journal": "Haemostasis", "date": "1986", "authors": "Holmer E, Soderberg K, Bergqvist D, Lindahl U", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "3744129", "url": "https://glygen.org/publication/PubMed/3744129" } ] }, { "title": "Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization.", "journal": "Biochemistry", "date": "1986", "authors": "Bock SC, Skriver K, Nielsen E, Thogersen HC, Wiman B, Donaldson VH, Eddy RL, Marrinan J, Radziejewska E, Huber R, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "3756141", "url": "https://glygen.org/publication/PubMed/3756141" } ] }, { "title": "Inhibition of chymotrypsin by heparin cofactor II.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1985", "authors": "Church FC, Noyes CM, Griffith MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "3863104", "url": "https://glygen.org/publication/PubMed/3863104" } ] }, { "title": "Amino acid sequence of the heavy chain of human alpha-factor XIIa (activated Hageman factor).", "journal": "The Journal of biological chemistry", "date": "1985", "authors": "McMullen BA, Fujikawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "3886654", "url": "https://glygen.org/publication/PubMed/3886654" } ] }, { "title": "The amino acid sequence of the light chain of human high-molecular-mass kininogen.", "journal": "European journal of biochemistry", "date": "1985", "authors": "Lottspeich F, Kellermann J, Henschen A, Foertsch B, Muller-Esterl W", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "4054110", "url": "https://glygen.org/publication/PubMed/4054110" } ] }, { "title": "The inhibition of plasmin, plasma kallikrein, plasma permeability factor, and the C'1r subcomponent of the first component of complement by serum C'1 esterase inhibitor.", "journal": "The Journal of experimental medicine", "date": "1969", "authors": "Ratnoff OD, Pensky J, Ogston D, Naff GB", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "4178758", "url": "https://glygen.org/publication/PubMed/4178758" } ] }, { "title": "Inhibition by C1INH of Hagemann factor fragment activation of coagulation, fibrinolysis, and kinin generation.", "journal": "The Journal of clinical investigation", "date": "1973", "authors": "Schreiber AD, Kaplan AP, Austen KF", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "4703226", "url": "https://glygen.org/publication/PubMed/4703226" } ] }, { "title": "Human high molecular weight kininogen. Studies of structure-function relationships and of proteolysis of the molecule occurring during contact activation of plasma.", "journal": "The Journal of biological chemistry", "date": "1979", "authors": "Kerbiriou DM, Griffin JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "500690", "url": "https://glygen.org/publication/PubMed/500690" } ] }, { "title": "Activation of human factor XI (plasma thromboplastin antecedent) by factor XIIa (activated Hageman factor).", "journal": "Biochemistry", "date": "1977", "authors": "Kurachi K, Davie EW", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "588558", "url": "https://glygen.org/publication/PubMed/588558" } ] }, { "title": "Primary structure of human alpha 2-macroglobulin. V. The complete structure.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Sottrup-Jensen L, Stepanik TM, Kristensen T, Wierzbicki DM, Jones CM, Lonblad PB, Magnusson S, Petersen TE", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "6203908", "url": "https://glygen.org/publication/PubMed/6203908" } ] }, { "title": "Mechanism of inhibition of activated protein C by protein C inhibitor.", "journal": "Journal of biochemistry", "date": "1984", "authors": "Suzuki K, Nishioka J, Kusumoto H, Hashimoto S", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "6323392", "url": "https://glygen.org/publication/PubMed/6323392" } ] }, { "title": "Binding of human blood-coagulation Factors IXa and X to phospholipid membranes.", "journal": "The Biochemical journal", "date": "1984", "authors": "Mertens K, Cupers R, Van Wijngaarden A, Bertina RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "6334516", "url": "https://glygen.org/publication/PubMed/6334516" } ] }, { "title": "Structure of human factor VIII.", "journal": "Nature", "date": "1984", "authors": "Vehar GA, Keyt B, Eaton D, Rodriguez H, O'Brien DP, Rotblat F, Oppermann H, Keck R, Wood WI, Harkins RN, Tuddenham EG, Lawn RM, Capon DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "6438527", "url": "https://glygen.org/publication/PubMed/6438527" } ] }, { "title": "Amino acid sequence of human beta-factor XIIa.", "journal": "The Journal of biological chemistry", "date": "1983", "authors": "Fujikawa K, McMullen BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "6604055", "url": "https://glygen.org/publication/PubMed/6604055" } ] }, { "title": "Studies on synthetic peptides that bind to fibrinogen and prevent fibrin polymerization. Structural requirements, number of binding sites, and species differences.", "journal": "Biochemistry", "date": "1980", "authors": "Laudano AP, Doolittle RF", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "7356959", "url": "https://glygen.org/publication/PubMed/7356959" } ] }, { "title": "Autoactivation of human Hageman factor. Demonstration utilizing a synthetic substrate.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Silverberg M, Dunn JT, Garen L, Kaplan AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "7391081", "url": "https://glygen.org/publication/PubMed/7391081" } ] }, { "title": "Effects of protein S and factor Xa on peptide bond cleavages during inactivation of factor Va and factor VaR506Q by activated protein C.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Rosing J, Hoekema L, Nicolaes GA, Thomassen MC, Hemker HC, Varadi K, Schwarz HP, Tans G", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "7499257", "url": "https://glygen.org/publication/PubMed/7499257" } ] }, { "title": "Inhibition of acrosin by protein C inhibitor and localization of protein C inhibitor to spermatozoa.", "journal": "The American journal of physiology", "date": "1994", "authors": "Zheng X, Geiger M, Ecke S, Bielek E, Donner P, Eberspacher U, Schleuning WD, Binder BR", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "7521127", "url": "https://glygen.org/publication/PubMed/7521127" } ] }, { "title": "Intermolecular interactions between protein C inhibitor and coagulation proteases.", "journal": "Biochemistry", "date": "1995", "authors": "Cooper ST, Whinna HC, Jackson TP, Boyd JM, Church FC", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "7548057", "url": "https://glygen.org/publication/PubMed/7548057" } ] }, { "title": "Expression of the blood-clotting factor-VIII cDNA is repressed by a transcriptional silencer located in its coding region.", "journal": "Blood", "date": "1995", "authors": "Hoeben RC, Fallaux FJ, Cramer SJ, van den Wollenberg DJ, van Ormondt H, Briet E, van der Eb AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "7727775", "url": "https://glygen.org/publication/PubMed/7727775" } ] }, { "title": "The affinity and stoichiometry of binding of human factor VIII to von Willebrand factor.", "journal": "Blood", "date": "1995", "authors": "Vlot AJ, Koppelman SJ, van den Berg MH, Bouma BN, Sixma JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "7756647", "url": "https://glygen.org/publication/PubMed/7756647" } ] }, { "title": "Factor IXa protects factor VIIIa from activated protein C. Factor IXa inhibits activated protein C-catalyzed cleavage of factor VIIIa at Arg562.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Regan LM, Lamphear BJ, Huggins CF, Walker FJ, Fay PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "8144529", "url": "https://glygen.org/publication/PubMed/8144529" } ] }, { "title": "Biology of factor IX.", "journal": "Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis", "date": "1993", "authors": "Kurachi K, Kurachi S, Furukawa M, Yao SN", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "8148489", "url": "https://glygen.org/publication/PubMed/8148489" } ] }, { "title": "Gene organization of human protein C inhibitor, a member of SERPIN family proteins encoded in five exons.", "journal": "Int. J. Hematol.", "date": "1993", "authors": "Hayashi T, Suzuki K", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "8148499", "url": "https://glygen.org/publication/PubMed/8148499" } ] }, { "title": "Isolation, cDNA cloning, and overexpression of a 33-kD cell surface glycoprotein that binds to the globular `heads` of C1q.", "journal": "The Journal of experimental medicine", "date": "1994", "authors": "Ghebrehiwet B, Lim BL, Peerschke EI, Willis AC, Reid KB", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "8195709", "url": "https://glygen.org/publication/PubMed/8195709" } ] }, { "title": "Factor XII-independent activation of factor XI in plasma: effects of sulfatides on tissue factor-induced coagulation.", "journal": "Blood", "date": "1993", "authors": "Gailani D, Broze GJ Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "8338946", "url": "https://glygen.org/publication/PubMed/8338946" } ] }, { "title": "Sequencing and cloning of human prolylcarboxypeptidase (angiotensinase C). Similarity to both serine carboxypeptidase and prolylendopeptidase families.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Tan F, Morris PW, Skidgel RA, Erdos EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "8344943", "url": "https://glygen.org/publication/PubMed/8344943" } ] }, { "title": "Human sperm-egg binding is inhibited by peptides corresponding to core region of an acrosomal serine protease inhibitor.", "journal": "Mol. Reprod. Dev.", "date": "1993", "authors": "Moore A, Penfold L M, Johnson J L, Latchman D S, Moore H D", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "8471250", "url": "https://glygen.org/publication/PubMed/8471250" } ] }, { "title": "Complexes of tissue kallikrein with protein C inhibitor in human semen and urine.", "journal": "European journal of biochemistry", "date": "1995-12-01", "authors": "Espa\u00f1a F, Fink E, Sanchez-Cuenca J, Gilabert J, Estell\u00e9s A, Witzgall K", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "8536714", "url": "https://glygen.org/publication/PubMed/8536714" } ] }, { "title": "Activation of the factor VIIIa-factor IXa enzyme complex of blood coagulation by membranes containing phosphatidyl-L-serine.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Gilbert GE, Arena AA", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "8626656", "url": "https://glygen.org/publication/PubMed/8626656" } ] }, { "title": "Characterization of semenogelin II and its molecular interaction with prostate-specific antigen and protein C inhibitor.", "journal": "European journal of biochemistry", "date": "1996", "authors": "Kise H, Nishioka J, Kawamura J, Suzuki K", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "8665956", "url": "https://glygen.org/publication/PubMed/8665956" } ] }, { "title": "Identification of the zinc-dependent endothelial cell binding protein for high molecular weight kininogen and factor XII: identity with the receptor that binds to the globular `heads` of C1q (gC1q-R).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Joseph K, Ghebrehiwet B, Peerschke EI, Reid KB, Kaplan AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "8710908", "url": "https://glygen.org/publication/PubMed/8710908" } ] }, { "title": "A two-allele polymorphism in protein C inhibitor with varying frequencies in different ethnic populations.", "journal": "Thrombosis and haemostasis", "date": "1996", "authors": "Radtke KP, Greengard JS, Fernandez JA, Villoutreix BO, Griffin JH", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "8713781", "url": "https://glygen.org/publication/PubMed/8713781" } ] }, { "title": "Activation and function of human Hageman factor. The role of high molecular weight kininogen and prekallikrein.", "journal": "The Journal of clinical investigation", "date": "1977", "authors": "Meier HL, Pierce JV, Colman RW, Kaplan AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "874082", "url": "https://glygen.org/publication/PubMed/874082" } ] }, { "title": "Human blood coagulation factor XI. Purification, properties, and mechanism of activation by activated factor XII.", "journal": "The Journal of biological chemistry", "date": "1977", "authors": "Bouma BN, Griffin JH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "893417", "url": "https://glygen.org/publication/PubMed/893417" } ] }, { "title": "Identification of functional endothelial protein C receptor in human plasma.", "journal": "The Journal of clinical investigation", "date": "1997", "authors": "Kurosawa S, Stearns-Kurosawa DJ, Hidari N, Esmon CT", "evidence": [ { "database": "Reactome", "id": "R-HSA-140875", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875" } ], "reference": [ { "type": "PubMed", "id": "9218519", "url": "https://glygen.org/publication/PubMed/9218519" } ] }, { "title": "High molecular weight kininogen peptides inhibit the formation of kallikrein on endothelial cell surfaces and subsequent urokinase-dependent plasmin formation.", "journal": "Blood", "date": "1997", "authors": "Lin Y, Harris RB, Yan W, McCrae KR, Zhang H, Colman RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9226169", "url": "https://glygen.org/publication/PubMed/9226169" } ] }, { "title": "High molecular weight kininogen regulates prekallikrein assembly and activation on endothelial cells: a novel mechanism for contact activation.", "journal": "Blood", "date": "1998", "authors": "Motta G, Rojkjaer R, Hasan AA, Cines DB, Schmaier AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9427705", "url": "https://glygen.org/publication/PubMed/9427705" } ] }, { "title": "Effects of melagatran, a new low-molecular-weight thrombin inhibitor, on thrombin and fibrinolytic enzymes.", "journal": "Thrombosis and haemostasis", "date": "1998", "authors": "Gustafsson D, Antonsson T, Bylund R, Eriksson U, Gyzander E, Nilsson I, Elg M, Mattsson C, Deinum J, Pehrsson S, Karlsson O, Nilsson A, Sorensen H", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9459334", "url": "https://glygen.org/publication/PubMed/9459334" } ] }, { "title": "Novastan (brand of argatroban): a small-molecule, direct thrombin inhibitor.", "journal": "Seminars in thrombosis and hemostasis", "date": "1997", "authors": "Hursting MJ, Alford KL, Becker JC, Brooks RL, Joffrion JL, Knappenberger GD, Kogan PW, Kogan TP, McKinney AA, Schwarz RP Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9469622", "url": "https://glygen.org/publication/PubMed/9469622" } ] }, { "title": "Protein C inhibitor acts as a procoagulant by inhibiting the thrombomodulin-induced activation of protein C in human plasma.", "journal": "Blood", "date": "1998-03-01", "authors": "Elisen M G, von dem Borne P A, Bouma B N, Meijers J C", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "9473218", "url": "https://glygen.org/publication/PubMed/9473218" } ] }, { "title": "Protein C inhibitor may modulate human sperm-oocyte interactions.", "journal": "Biology of reproduction", "date": "1998-03", "authors": "Elisen M G, van Kooij R J, Nolte M A, Marquart J A, Lock T M, Bouma B N, Meijers J C", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "9510955", "url": "https://glygen.org/publication/PubMed/9510955" } ] }, { "title": "Protein C inhibitor secreted from activated platelets efficiently inhibits activated protein C on phosphatidylethanolamine of platelet membrane and microvesicles.", "journal": "The Journal of biological chemistry", "date": "1998-05-01", "authors": "Nishioka J, Ning M, Hayashi T, Suzuki K", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "reference": [ { "type": "PubMed", "id": "9556620", "url": "https://glygen.org/publication/PubMed/9556620" } ] }, { "title": "Biosynthesis, assembly and secretion of coagulation factor VIII.", "journal": "Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis", "date": "1997", "authors": "Kaufman RJ, Pipe SW, Tagliavacca L, Swaroop M, Moussalli M", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9607108", "url": "https://glygen.org/publication/PubMed/9607108" } ] }, { "title": "Activation of factor VIII by thrombin increases its affinity for binding to synthetic phospholipid membranes and activated platelets.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Saenko EL, Scandella D, Yakhyaev AV, Greco NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9774404", "url": "https://glygen.org/publication/PubMed/9774404" } ] }, { "title": "The life cycle of coagulation factor VIII in view of its structure and function.", "journal": "Blood", "date": "1998", "authors": "Lenting PJ, van Mourik JA, Mertens K", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9834200", "url": "https://glygen.org/publication/PubMed/9834200" } ] }, { "title": "Thrombin activates factor XI on activated platelets in the absence of factor XII.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "1999", "authors": "Oliver JA, Monroe DM, Roberts HR, Hoffman M", "evidence": [ { "database": "Reactome", "id": "R-HSA-140837", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837" } ], "reference": [ { "type": "PubMed", "id": "9888880", "url": "https://glygen.org/publication/PubMed/9888880" } ] } ], "pathway": [ { "id": "hsa:5104", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5104", "resource": "KEGG Pathway" }, { "id": "R-HSA-140837", "name": "Intrinsic Pathway of Fibrin Clot Formation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837", "resource": "Reactome", "description": "Intrinsic Pathway of Fibrin Clot Formation" }, { "id": "R-HSA-140875", "name": "Common Pathway of Fibrin Clot Formation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875", "resource": "Reactome", "description": "Common Pathway of Fibrin Clot Formation" } ], "orthologs": [ { "uniprot_canonical_ac": "F7EMJ6-1", "protein_name": "Serpin family A member 5", "gene_name": "Serpina5", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAATMRFFPILCLVLFFSHGVASRQRSHSKEKKKSKESSVGAVGTSRSRDFAFRLYRALASEAPGQNVFFSPMSVSMSLGMLSLGSGLKTKAQILEGLGLSLQQGQEDMLHKGFQQLLQQFSQPSDGLQLSLGSALFTDPAVHIRDHFLSAMKTLYMSDMFSTNFGNPESAKKQINDYVAKKTNGKIVDLIKDLDSTHVMVVVNYIFFKAKWQTAFSSTNTHKMDYHVTPKKTIQVPMMNREDIYSYILDQNISCTVVGIPYQGNTFALFILPSEGKMKRVEDGLDERTLRNWLKMFTKRQLDLYLPKFSIEGTYKLEKILPKLGIQDIFTTHADLSGLTDHTNIKLSEMVHKSMVEVDESGTTAAASTGILFTLRSARPSSLKVEFTRPFLVVIMDGTNLYFIGKVIQP", "length": 410 }, "evidence": [ { "id": "45927483", "url": "http://www.informatics.jax.org/homology/45927483", "database": "MGI" }, { "id": "P05154", "url": "https://omabrowser.org/oma/group/P05154/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P70458-1", "protein_name": "Plasma serine protease inhibitor", "gene_name": "Serpina5", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRFFPILCLVLFISHGVASRRHSHSKKKKAKESSVGAVGPPSSKDFAFRLYRALVSESPGQNVFFSPLSVSMSLGMLSLGAGLKTKTQILDGLGLSLQQGQEDKLHKGFQQLLQRFRQPSDGLQLSLGSALFKDPAVHIRDDFLSAMKTLYMSDTFSTNFGNPEIAKKQINNYVAKQTKGKIVDFIKDLDSTHVMIVVNYIFFKAKWQTAFSETNTHKMDFHVTPKRTTQVPMMNREDGYSYYLDQNISCTVVGIPYQGNAIALFILPSEGKMKQVEDGLDERTLRNWLKMFTKRRLDLYLPKFSIEATYKLENVLPKLGIQDVFTTHADLSGITDHTNIKLSEMVHKSMMEVEESGTTAAAITGAIFTFRSARPSSLKIEFTRPFLLTLMEDSHILFVGKVTRP", "length": 405 }, "evidence": [ { "id": "45927483", "url": "http://www.informatics.jax.org/homology/45927483", "database": "MGI" }, { "id": "P05154", "url": "https://omabrowser.org/oma/group/P05154/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "acrosin binding", "id": "GO:0032190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032190", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "phosphatidylcholine binding", "id": "GO:0031210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031210", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "glycosaminoglycan binding", "id": "GO:0005539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005539", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "retinoic acid binding", "id": "GO:0001972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001972", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 19, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "platelet dense tubular network", "id": "GO:0031094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031094", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "protein C inhibitor-TMPRSS7 complex", "id": "GO:0036024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036024", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "protein C inhibitor-TMPRSS11E complex", "id": "GO:0036025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036025", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "protein C inhibitor-PLAT complex", "id": "GO:0036026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036026", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "protein C inhibitor-PLAU complex", "id": "GO:0036027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036027", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "protein C inhibitor-thrombin complex", "id": "GO:0036028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036028", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "protein C inhibitor-KLK3 complex", "id": "GO:0036029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036029", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "protein C inhibitor-plasma kallikrein complex", "id": "GO:0036030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036030", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "protein C inhibitor-coagulation factor V complex", "id": "GO:0097181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097181", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "protein C inhibitor-coagulation factor Xa complex", "id": "GO:0097182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097182", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "protein C inhibitor-coagulation factor XI complex", "id": "GO:0097183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097183", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "acrosomal membrane", "id": "GO:0002080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002080", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "platelet alpha granule", "id": "GO:0031091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031091", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "seminal vesicle development", "id": "GO:0061107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061107", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "fusion of sperm to egg plasma membrane involved in single fertilization", "id": "GO:0007342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007342", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" }, { "name": "negative regulation of hydrolase activity", "id": "GO:0051346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051346", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "plasma serine protease inhibitor N-glycosylated 1 (human)", "definition": "A plasma serine protease inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-262 of the amino acid sequence represented by UniProtKB:P05154-1, in which the glycan composition is represented by GlyTouCan:G26271XI. Example: UniProtKB:P05154-1, Asn-262, MOD:00160~GNO:G26271XI. [PRO:DNx, PMID:26791533]", "evidence": [ { "id": "PR:000053460", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053460" } ] }, { "name": "plasma serine protease inhibitor N-glycosylated 2 (human)", "definition": "A plasma serine protease inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-262 of the amino acid sequence represented by UniProtKB:P05154-1, in which the glycan composition is represented by GlyTouCan:G37399XV. Example: UniProtKB:P05154-1, Asn-262, MOD:00160~GNO:G37399XV. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053461", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053461" } ] }, { "name": "plasma serine protease inhibitor N-glycosylated 3 (human)", "definition": "A plasma serine protease inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-262 of the amino acid sequence represented by UniProtKB:P05154-1, in which the glycan composition is represented by GlyTouCan:G41126SR. Example: UniProtKB:P05154-1, Asn-262, MOD:00160~GNO:G41126SR. [PRO:DNx, PMID:26791533]", "evidence": [ { "id": "PR:000053462", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053462" } ] }, { "name": "plasma serine protease inhibitor N-glycosylated 4 (human)", "definition": "A plasma serine protease inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-262 of the amino acid sequence represented by UniProtKB:P05154-1, in which the glycan composition is represented by GlyTouCan:G60923RB. Example: UniProtKB:P05154-1, Asn-262, MOD:00160~GNO:G60923RB. [PRO:DNx, PMID:26791533]", "evidence": [ { "id": "PR:000053463", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053463" } ] }, { "name": "plasma serine protease inhibitor N-glycosylated 5 (human)", "definition": "A plasma serine protease inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-262 of the amino acid sequence represented by UniProtKB:P05154-1, in which the glycan composition is represented by GlyTouCan:G87051GH. Example: UniProtKB:P05154-1, Asn-262, MOD:00160~GNO:G87051GH. [PRO:DNx, PMID:26791533]", "evidence": [ { "id": "PR:000053464", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053464" } ] }, { "name": "plasma serine protease inhibitor O-glycosylated 1 (human)", "definition": "A plasma serine protease inhibitor (human) that has been O-glycosylated at the residue equivalent to Thr-39 of the amino acid sequence represented by UniProtKB:P05154-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05154-1, Thr-39, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:22171320]", "evidence": [ { "id": "PR:000053465", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053465" } ] } ], "site_annotation": [ { "start_pos": 249, "end_pos": 251, "annotation": "n_glycosylation_sequon" }, { "start_pos": 262, "end_pos": 264, "annotation": "n_glycosylation_sequon" }, { "start_pos": 338, "end_pos": 340, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N- and O-glycosylated. N-glycosylation consists of a mixture of sialylated bi- (including sialyl-Lewis X epitopes), tri- and tetra-antennary complex-type chains; affects the maximal heparin- and thrombomodulin-enhanced rates of thrombin inhibition. O-glycosylated with core 1 or possibly core 8 glycans. Further modified with 2 sialic acid residues.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "14760718", "url": "https://glygen.org/publication/PubMed/14760718" }, { "database": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" }, { "database": "PubMed", "id": "21056543", "url": "https://glygen.org/publication/PubMed/21056543" }, { "database": "PubMed", "id": "18467335", "url": "https://glygen.org/publication/PubMed/18467335" }, { "database": "PubMed", "id": "22171320", "url": "https://glygen.org/publication/PubMed/22171320" }, { "database": "PubMed", "id": "12575940", "url": "https://glygen.org/publication/PubMed/12575940" } ] }, { "annotation": "Proteolytically cleaved. Inhibition of proteases is accompanied by formation of a stable enzyme-inhibitor complex and by degradation of the serpin to lower molecular weight derivatives. Proteolytically cleaved at the N-terminus; inhibits slightly the heparin- and thrombomodulin-enhanced rates of thrombin inhibition.", "evidence": [ { "database": "UniProtKB", "id": "P05154", "url": "https://www.uniprot.org/uniprot/P05154" }, { "database": "PubMed", "id": "18467335", "url": "https://glygen.org/publication/PubMed/18467335" }, { "database": "PubMed", "id": "15328353", "url": "https://glygen.org/publication/PubMed/15328353" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 249, 262, 338 ], "o_linked_sites": [ 29, 30, 31, 39, 362 ], "snv_sites": [ 21, 27, 39, 47, 62, 121, 203, 249, 251, 264, 338 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 249, "end_pos": 251 }, { "start_pos": 262, "end_pos": 264 }, { "start_pos": 338, "end_pos": 340 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 32 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 19 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 3 } ], "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": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "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_with_glycan", "table_stats": [ { "field": "total", "count": 28 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 19 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 148 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }