{ "uniprot_canonical_ac": "P05155-1", "uniprot_ac": "P05155", "uniprot_id": "IC1_HUMAN", "mass": { "chemical_mass": 55154.0, "monoisotopic_mass": 55154.0 }, "refseq": { "ac": "NP_000053", "name": "plasma protease C1 inhibitor precursor", "summary": "This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000053" }, "gene_names": [ { "name": "SERPING1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P05155", "id": "P05155" }, { "name": "C1IN; C1INH; C1NH; HAE1; HAE2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000053", "id": "NP_000053" }, { "name": "C1IN", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05155", "id": "P05155" }, { "name": "C1NH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P05155", "id": "P05155" }, { "name": "SERPING1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000053", "id": "NP_000053" } ], "protein_names": [ { "name": "Plasma protease C1 inhibitor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P05155" }, { "name": "C1 Inh", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05155" }, { "name": "C1 esterase inhibitor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05155" }, { "name": "C1-inhibiting factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05155" }, { "name": "C1Inh", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05155" }, { "name": "Serpin G1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P05155" }, { "name": "plasma protease C1 inhibitor precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000053", "id": "NP_000053" }, { "name": "plasma protease C1 inhibitor; complement component 1 inhibitor; serpin peptidase inhibitor clade G member 1; C1-inhibitor; epididymis secretory sperm binding protein; serine/cysteine proteinase inhibitor clade G member 1; serpin G1; C1-inhibiting factor; C1 esterase inhibitor; serpin peptidase inhibitor, clade G (C1 inhibitor), member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000053", "id": "NP_000053" } ], "function": [ { "annotation": "Acquired Angioedema Due to C1-Inhibitor Deficiency (AAE-C1-INH)-A Bicenter Retrospective Study on Diagnosis, Course, and Therapy.", "evidence": [ { "database": "RefSeq", "id": "NP_000053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000053" }, { "database": "PubMed", "id": "37716525", "url": "https://glygen.org/publication/PubMed/37716525" } ] }, { "annotation": "Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein.", "evidence": [ { "database": "UniProtKB", "id": "P05155", "url": "https://www.uniprot.org/uniprot/P05155#function" }, { "database": "PubMed", "id": "8495195", "url": "https://glygen.org/publication/PubMed/8495195" } ] }, { "annotation": "Gene Mutations Linked to Hereditary Angioedema in Solitary Angioedema Patients With Normal C1 Inhibitor.", "evidence": [ { "database": "RefSeq", "id": "NP_000053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000053" }, { "database": "PubMed", "id": "36787826", "url": "https://glygen.org/publication/PubMed/36787826" } ] }, { "annotation": "Interplay between C1-inhibitor and group IIA secreted phospholipase A2 impairs their respective function.", "evidence": [ { "database": "RefSeq", "id": "NP_000053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000053" }, { "database": "PubMed", "id": "36385678", "url": "https://glygen.org/publication/PubMed/36385678" } ] }, { "annotation": "SerpinG1: A Novel Biomarker Associated With Poor Coronary Collateral in Patients With Stable Coronary Disease and Chronic Total Occlusion.", "evidence": [ { "database": "RefSeq", "id": "NP_000053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000053" }, { "database": "PubMed", "id": "36515245", "url": "https://glygen.org/publication/PubMed/36515245" } ] }, { "annotation": "Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.", "evidence": [ { "database": "RefSeq", "id": "NP_000053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000053" }, { "database": "PubMed", "id": "37620742", "url": "https://glygen.org/publication/PubMed/37620742" } ] }, { "annotation": "This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020].", "evidence": [ { "database": "RefSeq", "id": "NP_000053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000053" } ] } ], "disease": [ { "disease_id": "DOID:0080939", "recommended_name": { "id": "DOID:0080939", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080939", "name": "hereditary angioedema type I", "description": "A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q." }, "synonyms": [ { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "hereditary angioedema with C1Inh deficiency", "description": "Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein." }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioedema, hereditary, 1 and 2", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioedema, hereditary, type 1/2", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "C1 esterase inhibitor, deficiency of", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "HAE1", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioedema, hereditary, type 1", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioedema, hereditary, type 2", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioedema, hereditary, type I", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioneurotic edema, hereditary", "description": "" }, { "id": "MIM:106100", "resource": "MIM", "url": "https://www.omim.org/entry/106100", "name": "Angioedema, hereditary, 1", "description": "Angioedema, hereditary, 1" } ], "evidence": [ { "id": "106100", "database": "MIM", "url": "https://www.omim.org/entry/106100" } ] } ], "snv": [ { "evidence": [ { "id": "rs377700094", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377700094" }, { "id": "rs377700094", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs377700094" }, { "id": "rs377700094", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs377700094" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 71, "end_pos": 71, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSI); o-glyco-site-loss (T->I).", "chr_id": "11", "chr_pos": "57600039", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T71", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1322360802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1322360802" }, { "id": "rs1322360802", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1322360802" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 113, "end_pos": 113, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "11", "chr_pos": "57600165", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S113", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05155", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05155" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 113, "end_pos": 113, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->Y).", "chr_id": "11", "chr_pos": "57600165", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S113", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"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, 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"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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1565169621", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1565169621" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 115, "end_pos": 115, "sequence_org": "T", "sequence_mut": "null", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->null).", "chr_id": "11", "chr_pos": "57600169_57600172", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T115", "disease": [ { "disease_id": "DOID:0080939", "recommended_name": { "id": "DOID:0080939", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080939", "name": "hereditary angioedema type I", "description": "A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q." }, "synonyms": [ { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "hereditary angioedema with C1Inh deficiency", "description": "Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein." }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioedema, hereditary, 1 and 2", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioedema, hereditary, type 1/2", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "C1 esterase inhibitor, deficiency of", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "HAE1", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioedema, hereditary, type 1", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioedema, hereditary, type 2", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioedema, hereditary, type I", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioneurotic edema, hereditary", "description": "" }, { "id": "MIM:106100", "resource": "MIM", "url": "https://www.omim.org/entry/106100", "name": "Angioedema, hereditary, 1", "description": "Angioedema, hereditary, 1" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs200534715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200534715" }, { "id": "rs200534715", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200534715" }, { "id": "rs200534715", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200534715" }, { "id": "rs200534715", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200534715#frequency_tab" }, { "id": "rs200534715", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200534715" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 118, "end_pos": 118, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "11", "chr_pos": "57600179", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "T118", "disease": [ { "disease_id": "DOID:0080939", "recommended_name": { "id": "DOID:0080939", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080939", "name": "hereditary angioedema type I", "description": "A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q." }, "synonyms": [ { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "hereditary angioedema with C1Inh deficiency", "description": "Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein." }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioedema, hereditary, 1 and 2", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioedema, hereditary, type 1/2", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "C1 esterase inhibitor, deficiency of", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "HAE1", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioedema, hereditary, type 1", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioedema, hereditary, type 2", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioedema, hereditary, type I", "description": "" }, { "id": "MONDO:0033946", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033946", "name": "angioneurotic edema, hereditary", "description": "" }, { "id": "MIM:106100", "resource": "MIM", "url": "https://www.omim.org/entry/106100", "name": "Angioedema, hereditary, 1", "description": "Angioedema, hereditary, 1" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs762090349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762090349" }, { "id": "rs762090349", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762090349" }, { "id": "rs762090349", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs762090349#frequency_tab" }, { "id": "rs762090349", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762090349" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 135, "end_pos": 135, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SHS->NHS).", "chr_id": "11", "chr_pos": "57600231", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S135", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P05155", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P05155" } ], "glycoeffect": [], "start_pos": 156, "end_pos": 156, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "57600293", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A156", "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": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "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:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", 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"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": 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"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, 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"MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNASRTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPRIKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFVLWDQQHKFPVFMGRVYDPRA", "length": 500, "header": "sp|P05155-1|IC1_HUMAN Isoform 1 of Plasma protease C1 inhibitor OS=Homo sapiens OX=9606 GN=SERPING1 PE=1 SV=2 CANONICAL=P05155-1" }, "isoforms": [ { "isoform_ac": "A0A087WUD9-1", "url": "", "sequence": { "sequence": "MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPAKWKTTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPRIKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFVLWDQQHKFPVFMGRVYDPRA", "length": 432, "header": "tr|A0A087WUD9-1|IC1_HUMAN Computationally mapped isoform of Plasma protease C1 inhibitor OS=Homo sapiens OX=9606 GN=SERPING1 PE=1 SV=2 CANONICAL=P05155-1" }, "locus": { "chromosome": "11", "start_pos": 57614578, "end_pos": 57598271, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000619430.2", "url": "https://www.ensembl.org/id/ENST00000619430.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000478572.2", "url": "https://www.ensembl.org/id/ENSP00000478572.2" } ] } }, { "isoform_ac": "A0A7I2V2D2-1", "url": "", "sequence": { "sequence": "MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNASRTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTLKAKNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPRIKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFVLWDQQHKFPVFMGRVYDPRA", "length": 482, "header": "tr|A0A7I2V2D2-1|IC1_HUMAN Computationally mapped isoform of Plasma protease C1 inhibitor OS=Homo sapiens OX=9606 GN=SERPING1 PE=1 SV=1 CANONICAL=P05155-1" }, "locus": { "chromosome": "11", "start_pos": 57614578, "end_pos": 57598271, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677625.1", "url": "https://www.ensembl.org/id/ENST00000677625.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502857.1", "url": "https://www.ensembl.org/id/ENSP00000502857.1" } ] } }, { "isoform_ac": "A0A7I2V2X2-1", "url": "", "sequence": { "sequence": "MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPGGAAAALPQSEFGDPGTPEPETSS", "length": 252, "header": "tr|A0A7I2V2X2-1|IC1_HUMAN Computationally mapped isoform of Plasma protease C1 inhibitor OS=Homo sapiens OX=9606 GN=SERPING1 PE=1 SV=1 CANONICAL=P05155-1" }, "locus": { "chromosome": "11", "start_pos": 57611787, "end_pos": 57598271, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677915.1", "url": "https://www.ensembl.org/id/ENST00000677915.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503118.1", "url": "https://www.ensembl.org/id/ENSP00000503118.1" } ] } }, { "isoform_ac": "A0A7I2V4I9-1", "url": "", "sequence": { "sequence": "MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPESRSVAQAGMQWHHLSSLQPPSPRFK", "length": 254, "header": "tr|A0A7I2V4I9-1|A0A7I2V4I9_HUMAN Computationally mapped isoform of Serpin family G member 1 OS=Homo sapiens OX=9606 GN=SERPING1 PE=1 SV=1 CANONICAL=P05155-1" }, "locus": { "chromosome": "11", "start_pos": 57605400, "end_pos": 57598271, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677624.1", "url": "https://www.ensembl.org/id/ENST00000677624.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503979.1", "url": "https://www.ensembl.org/id/ENSP00000503979.1" } ] } }, { "isoform_ac": "A0A7I2V5R3-1", "url": "", "sequence": { "sequence": "MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNASRTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTLKAKPWPRQTLYILGWKQDSQVSSCISTILNGKMWGSCSSPTI", "length": 382, "header": "tr|A0A7I2V5R3-1|A0A7I2V5R3_HUMAN Computationally mapped isoform of Serpin family G member 1 OS=Homo sapiens OX=9606 GN=SERPING1 PE=1 SV=1 CANONICAL=P05155-1" }, "locus": { "chromosome": "11", "start_pos": 57611744, "end_pos": 57598271, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678592.1", "url": "https://www.ensembl.org/id/ENST00000678592.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504424.1", "url": "https://www.ensembl.org/id/ENSP00000504424.1" } ] } }, { "isoform_ac": "B5MCB9-1", "url": "", "sequence": { "sequence": "MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAM", "length": 160, "header": "tr|B5MCB9-1|IC1_HUMAN Computationally mapped isoform of Plasma protease C1 inhibitor OS=Homo sapiens OX=9606 GN=SERPING1 PE=1 SV=1 CANONICAL=P05155-1" }, "locus": { "chromosome": "11", "start_pos": 57600307, "end_pos": 57598271, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000405496.5", "url": "https://www.ensembl.org/id/ENST00000405496.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000384561.1", "url": "https://www.ensembl.org/id/ENSP00000384561.1" } ] } }, { "isoform_ac": "C9JZJ9-1", "url": "", "sequence": { "sequence": "MGAGPGRGGGPWAPRVGAGSEAGWLRRSADVAAQMASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTT", "length": 122, "header": "tr|C9JZJ9-1|C9JZJ9_HUMAN Computationally mapped isoform of Serpin family G member 1 OS=Homo sapiens OX=9606 GN=SERPING1 PE=1 SV=1 CANONICAL=P05155-1" }, "locus": { "chromosome": "11", "start_pos": 57600091, "end_pos": 57598169, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457869.1", "url": "https://www.ensembl.org/id/ENST00000457869.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000399746.1", "url": "https://www.ensembl.org/id/ENSP00000399746.1" } ] } }, { "isoform_ac": "E9PGN7-1", "url": "", "sequence": { "sequence": "MGAGPGRGGGPWAPRVGAGSEAGWLRRSADVAAQMASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNASRTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSEQPSHLFPLAKWKTTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPRIKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFVLWDQQHKFPVFMGRVYDPRA", "length": 543, "header": "tr|E9PGN7-1|IC1_HUMAN Computationally mapped isoform of Plasma protease C1 inhibitor OS=Homo sapiens OX=9606 GN=SERPING1 PE=1 SV=1 CANONICAL=P05155-1" }, "locus": { "chromosome": "11", "start_pos": 57614578, "end_pos": 57598169, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000403558.1", "url": "https://www.ensembl.org/id/ENST00000403558.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000384420.1", "url": "https://www.ensembl.org/id/ENSP00000384420.1" } ] } }, { "isoform_ac": "E9PK97-1", "url": "", "sequence": { "sequence": "MASRLTLLTLLLLLLAGGLGRTPKQTWRASSLTPRTSPVSTRP", "length": 43, "header": "tr|E9PK97-1|IC1_HUMAN Computationally mapped isoform of Plasma protease C1 inhibitor OS=Homo sapiens OX=9606 GN=SERPING1 PE=1 SV=1 CANONICAL=P05155-1" }, "locus": { "chromosome": "11", "start_pos": 57602112, "end_pos": 57598271, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000531133.5", "url": "https://www.ensembl.org/id/ENST00000531133.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000435431.1", "url": "https://www.ensembl.org/id/ENSP00000435431.1" } ] } }, { "isoform_ac": "H0YCA1-1", "url": "", "sequence": { "sequence": "MASRLTLLTLLLLLLAGVCAAALPQSEFGDPGTPEPETSS", "length": 40, "header": "tr|H0YCA1-1|H0YCA1_HUMAN Computationally mapped isoform of Serpin family G member 1 OS=Homo sapiens OX=9606 GN=SERPING1 PE=4 SV=2 CANONICAL=P05155-1" }, "locus": { "chromosome": "11", "start_pos": 57611787, "end_pos": 57598271, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528996.2", "url": "https://www.ensembl.org/id/ENST00000528996.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000431226.2", "url": "https://www.ensembl.org/id/ENSP00000431226.2" } ] } }, { "isoform_ac": "H9KV48-1", "url": "", "sequence": { "sequence": "MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNASRTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTLKAKAIMEKLEMSKFQPTLLTLPRIKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFVLWDQQHKFPVFMGRVYDPRA", "length": 463, "header": "tr|H9KV48-1|IC1_HUMAN Computationally mapped isoform of Plasma protease C1 inhibitor OS=Homo sapiens OX=9606 GN=SERPING1 PE=1 SV=1 CANONICAL=P05155-1" }, "locus": { "chromosome": "11", "start_pos": 57614578, "end_pos": 57598271, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000340687.10", "url": "https://www.ensembl.org/id/ENST00000340687.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000341861.6", "url": "https://www.ensembl.org/id/ENSP00000341861.6" } ] } }, { "isoform_ac": "P05155-1", "url": "", "sequence": { "sequence": "MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNASRTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPRIKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFVLWDQQHKFPVFMGRVYDPRA", "length": 500, "header": "sp|P05155-1|IC1_HUMAN Isoform 1 of Plasma protease C1 inhibitor OS=Homo sapiens OX=9606 GN=SERPING1 PE=1 SV=2 CANONICAL=P05155-1" }, "locus": { "chromosome": "11", "start_pos": 57614578, "end_pos": 57598271, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676670.1", "url": "https://www.ensembl.org/id/ENST00000676670.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504807.1", "url": "https://www.ensembl.org/id/ENSP00000504807.1" } ] } }, { "isoform_ac": "P05155-2", "url": "", "sequence": { "sequence": "MLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNASRTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPRIKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFVLWDQQHKFPVFMGRVYDPRA", "length": 448, "header": "sp|P05155-2|IC1_HUMAN Isoform 2 of Plasma protease C1 inhibitor OS=Homo sapiens OX=9606 GN=SERPING1 PE=1 SV=2 CANONICAL=P05155-1" }, "locus": { "chromosome": "11", "start_pos": 57614578, "end_pos": 57599984, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378324.6", "url": "https://www.ensembl.org/id/ENST00000378324.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000367575.2", "url": "https://www.ensembl.org/id/ENSP00000367575.2" } ] } }, { "isoform_ac": "P05155-3", "url": "", "sequence": { "sequence": "MASRLTLLTLLLLLLAGFLEPQDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGVTSVSQIFHSPDLAIRDTFVNASRTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPRIKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFVLWDQQHKFPVFMGRVYDPRA", "length": 505, "header": "sp|P05155-3|IC1_HUMAN Isoform 3 of Plasma protease C1 inhibitor OS=Homo sapiens OX=9606 GN=SERPING1 PE=1 SV=2 CANONICAL=P05155-1" }, "locus": { "chromosome": "11", "start_pos": 57614578, "end_pos": 57598271, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378323.8", "url": "https://www.ensembl.org/id/ENST00000378323.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000367574.4", "url": "https://www.ensembl.org/id/ENSP00000367574.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "", "start_pos": 113, "start_aa": "Ser", "end_pos": 113, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser113", "evidence": [ { "id": "P05155", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 115, "start_aa": "Thr", "end_pos": 115, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr115", "evidence": [ { "id": "P05155", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 118, "start_aa": "Thr", "end_pos": 118, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr118", "evidence": [ { "id": "P05155", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G53434XO", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 118, "start_aa": "Thr", "end_pos": 118, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr118", "evidence": [ { "id": "P05155", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": 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"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:710", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:710", "resource": "KEGG Pathway" }, { "id": "R-HSA-114608", "name": "Platelet degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608", "resource": "Reactome", "description": "Platelet degranulation" }, { "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-9657689", "name": "Defective SERPING1 causes hereditary angioedema", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9657689", "resource": "Reactome", "description": "Defective SERPING1 causes hereditary angioedema" }, { "id": "R-HSA-977606", "name": "Regulation of Complement cascade", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606", "resource": "Reactome", "description": "Regulation of Complement cascade" } ], "orthologs": [ { "uniprot_canonical_ac": "P97290-1", "protein_name": "Plasma protease C1 inhibitor", "gene_name": "Serping1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MASRLTPLTLLLLLLAGDRAFSDPEATSHSTQDPLEAQAKSRESFPERDDSWSPPEPTVLPSTWPTTSVAITITNDTMGKVANESFSQHSQPAAQLPTDSPGQPPLNSSSQPSTASDLPTQATTEPFCPEPLAQCSDSDRDSSEAKLSEALTDFSVKLYHAFSATKMAKTNMAFSPFSIASLLTQVLLGAGDSTKSNLESILSYPKDFACVHQALKGFSSKGVTSVSQIFHSPDLAIRDTYVNASQSLYGSSPRVLGPDSAANLELINTWVAENTNHKIRKLLDSLPSDTCLVLLNAVYLSAKWKITFEPKKMMAPFFYKNSMIKVPMMSSVKYPVAQFDDHTLKAKVGQLQLSHNLSFVIVVPVFPKHQLKDVEKALNPTVFKAIMKKLELSKFLPTYLTMPHIKVKSSQDMLSVMEKLEFFDFTYDLNLCGLTEDPDLQVSAMKHETVLELTESGVEAAAASAISFGRSLPIFEVQRPFLFLLWDQQHRFPVFMGRVYDPRG", "length": 504 }, "evidence": [ { "id": "45920767", "url": "http://www.informatics.jax.org/homology/45920767", "database": "MGI" }, { "id": "P05155", "url": "https://omabrowser.org/oma/group/P05155/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q6P734-1", "protein_name": "Plasma protease C1 inhibitor", "gene_name": "Serping1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MASKLTPLTLLLLLLAGDRAFSDSEVTSHSSQDPLVVQEGSRDSVPERDGSRSPIEHTGQSSTWPTTSGSTKISNDTMDQVANESFIQHVQPAAQLPEDSPSQSPVNSSSPPSTASAPPTQAPTEPLCPEPLAWCSDSDRDSSEATLSEALTDFSVKLYHAFSATKKAETNMAFSPFSIASLLTQVLLGAGDSTKSNLEDILSYPKDFACVHQTLKAFSSKGVTSVSQIFHSPDLAIRDTYVNASLSLYGSSPRVLGPDGDANLKLINTWVAENTNHKINELLDSLPSDTRLVLLNAVYLSAKWKKTFEQKKMMASFLYKNSMIKVPMLSSKKYPLALFNDQTLKAKVGQLQLSHNLSFVIMVPQSPTHQLEDMEKALNPTVFKAILKKLELSKFQPTYVMMPRIKVKSSQDMLSIMEKLEFFDFTYDLNLCGLTEDPDLQVSSMKHETVLELTETGVEAAAASTISVARNLLIFEVQQPFLFLLWDQRHKFPVFMGRVYDPRA", "length": 504 }, "evidence": [ { "id": "45920767", "url": "http://www.informatics.jax.org/homology/45920767", "database": "MGI" }, { "id": "P05155", "url": "https://omabrowser.org/oma/group/P05155/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 1, "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": "P05155", "url": "https://www.uniprot.org/uniprot/P05155" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P05155", "url": "https://www.uniprot.org/uniprot/P05155" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P05155", "url": "https://www.uniprot.org/uniprot/P05155" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P05155", "url": "https://www.uniprot.org/uniprot/P05155" } ], "pmid": "" }, { "name": "platelet alpha granule lumen", "id": "GO:0031093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031093", "evidence": [ { "database": "UniProtKB", "id": "P05155", "url": "https://www.uniprot.org/uniprot/P05155" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P05155", "url": "https://www.uniprot.org/uniprot/P05155" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "P05155", "url": "https://www.uniprot.org/uniprot/P05155" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P05155", "url": "https://www.uniprot.org/uniprot/P05155" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "negative regulation of complement activation, lectin pathway", "id": "GO:0001869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001869", "evidence": [ { "database": "UniProtKB", "id": "P05155", "url": "https://www.uniprot.org/uniprot/P05155" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P05155", "url": "https://www.uniprot.org/uniprot/P05155" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "P05155", "url": "https://www.uniprot.org/uniprot/P05155" } ], "pmid": "" }, { "name": "blood circulation", "id": "GO:0008015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008015", "evidence": [ { "database": "UniProtKB", "id": "P05155", "url": "https://www.uniprot.org/uniprot/P05155" } ], "pmid": "" }, { "name": "fibrinolysis", "id": "GO:0042730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042730", "evidence": [ { "database": "UniProtKB", "id": "P05155", "url": "https://www.uniprot.org/uniprot/P05155" } ], "pmid": "" }, { "name": "complement activation, classical pathway", "id": "GO:0006958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "P05155", "url": "https://www.uniprot.org/uniprot/P05155" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "plasma protease C1 inhibitor N-glycosylated 1 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-238 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P05155-1, Asn-238, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053466", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053466" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 2 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-238 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P05155-1, Asn-238, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053467", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053467" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 3 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-238 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G12580WI. Example: UniProtKB:P05155-1, Asn-238, MOD:00160~GNO:G12580WI. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053468", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053468" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 4 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-238 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan structure is represented by GlyTouCan:G42358LZ. Example: UniProtKB:P05155-1, Asn-238, MOD:00160~GNO:G42358LZ. [PRO:DNx, PMID:24279413]", "evidence": [ { "id": "PR:000053469", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053469" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 5 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-238 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P05155-1, Asn-238, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053470", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053470" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 6 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-238 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G85740DB. Example: UniProtKB:P05155-1, Asn-238, MOD:00160~GNO:G85740DB. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053471", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053471" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 7 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-25 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P05155-1, Asn-25, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053472", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053472" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 8 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-25 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P05155-1, Asn-25, MOD:00160~GNO:G06247RL. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053473", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053473" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 9 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-25 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P05155-1, Asn-25, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053474", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053474" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 10 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-25 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P05155-1, Asn-25, MOD:00160~GNO:G10486CT. [PRO:DNx, PMID:22171320]", "evidence": [ { "id": "PR:000053475", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053475" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 11 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-25 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G12580WI. Example: UniProtKB:P05155-1, Asn-25, MOD:00160~GNO:G12580WI. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053476", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053476" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 12 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-25 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G27947YN. Example: UniProtKB:P05155-1, Asn-25, MOD:00160~GNO:G27947YN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053477", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053477" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 13 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-25 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G36670VW. Example: UniProtKB:P05155-1, Asn-25, MOD:00160~GNO:G36670VW. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053478", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053478" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 14 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-25 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05155-1, Asn-25, MOD:00160~GNO:G43417UB. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053479", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053479" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 15 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-25 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P05155-1, Asn-25, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053480", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053480" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 16 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-25 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G85144OK. Example: UniProtKB:P05155-1, Asn-25, MOD:00160~GNO:G85144OK. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053481", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053481" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 17 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-25 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P05155-1, Asn-25, MOD:00160~GNO:G88374WZ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053482", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053482" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 18 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-253 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P05155-1, Asn-253, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053483", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053483" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 19 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-253 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P05155-1, Asn-253, MOD:00160~GNO:G06247RL. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053484", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053484" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 20 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-253 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P05155-1, Asn-253, MOD:00160~GNO:G88374WZ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053485", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053485" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 21 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-253 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G94917XT. Example: UniProtKB:P05155-1, Asn-253, MOD:00160~GNO:G94917XT. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053486", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053486" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 22 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-69 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G11115RO. Example: UniProtKB:P05155-1, Asn-69, MOD:00160~GNO:G11115RO. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053487", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053487" } ] }, { "name": "plasma protease C1 inhibitor N-glycosylated 23 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been N-glycosylated at the residue equivalent to Asn-69 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G27947YN. Example: UniProtKB:P05155-1, Asn-69, MOD:00160~GNO:G27947YN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053488", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053488" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 1 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Ser-113 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P05155-1, Ser-113, MOD:00002~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053489", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053489" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 2 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Ser-28 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05155-1, Ser-28, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053490", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053490" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 3 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Ser-28 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G58001LT. Example: UniProtKB:P05155-1, Ser-28, MOD:00002~GNO:G58001LT. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053491", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053491" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 4 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Ser-30 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05155-1, Ser-30, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053492", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053492" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 5 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Ser-31 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G36670VW. Example: UniProtKB:P05155-1, Ser-31, MOD:00002~GNO:G36670VW. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053493", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053493" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 6 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Ser-31 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05155-1, Ser-31, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053494", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053494" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 7 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Thr-115 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05155-1, Thr-115, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053495", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053495" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 8 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Thr-118 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05155-1, Thr-118, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053496", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053496" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 9 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Thr-118 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P05155-1, Thr-118, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053497", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053497" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 10 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Thr-119 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05155-1, Thr-119, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053498", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053498" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 11 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Thr-27 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P05155-1, Thr-27, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053499", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053499" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 12 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Thr-27 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05155-1, Thr-27, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053500", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053500" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 13 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Thr-27 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P05155-1, Thr-27, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053501", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053501" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 14 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Thr-47 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05155-1, Thr-47, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:22171320]", "evidence": [ { "id": "PR:000053502", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053502" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 15 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Thr-47 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P05155-1, Thr-47, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:22171320]", "evidence": [ { "id": "PR:000053503", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053503" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 16 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Thr-48 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P05155-1, Thr-48, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:22171320]", "evidence": [ { "id": "PR:000053504", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053504" } ] }, { "name": "plasma protease C1 inhibitor O-glycosylated 17 (human)", "definition": "A plasma protease C1 inhibitor (human) that has been O-glycosylated at the residue equivalent to Thr-48 of the amino acid sequence represented by UniProtKB:P05155-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P05155-1, Thr-48, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:22171320]", "evidence": [ { "id": "PR:000053505", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053505" } ] } ], "site_annotation": [ { "start_pos": 238, "end_pos": 240, "annotation": "n_glycosylation_sequon" }, { "start_pos": 253, "end_pos": 255, "annotation": "n_glycosylation_sequon" }, { "start_pos": 25, "end_pos": 27, "annotation": "n_glycosylation_sequon" }, { "start_pos": 352, "end_pos": 354, "annotation": "n_glycosylation_sequon" }, { "start_pos": 69, "end_pos": 71, "annotation": "n_glycosylation_sequon" }, { "start_pos": 81, "end_pos": 83, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Can be proteolytically cleaved by E.coli stcE.", "evidence": [ { "database": "UniProtKB", "id": "P05155", "url": "https://www.uniprot.org/uniprot/P05155" }, { "database": "PubMed", "id": "12123444", "url": "https://glygen.org/publication/PubMed/12123444" }, { "database": "PubMed", "id": "15096536", "url": "https://glygen.org/publication/PubMed/15096536" } ] }, { "annotation": "Highly glycosylated (49%) with N- and O-glycosylation. O-glycosylated with core 1 or possibly core 8 glycans. N-glycan heterogeneity at Asn-25: Hex5HexNAc4 (minor), dHex1Hex5HexNAc4 (minor), Hex6HexNAc5 (major) and dHex1Hex6HexNAc5 (minor).", "evidence": [ { "database": "UniProtKB", "id": "P05155", "url": "https://www.uniprot.org/uniprot/P05155" }, { "database": "PubMed", "id": "19838169", "url": "https://glygen.org/publication/PubMed/19838169" }, { "database": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" }, { "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": "12754519", "url": "https://glygen.org/publication/PubMed/12754519" }, { "database": "PubMed", "id": "23234360", "url": "https://glygen.org/publication/PubMed/23234360" }, { "database": "PubMed", "id": "3756141", "url": "https://glygen.org/publication/PubMed/3756141" }, { "database": "PubMed", "id": "19139490", "url": "https://glygen.org/publication/PubMed/19139490" }, { "database": "PubMed", "id": "16040958", "url": "https://glygen.org/publication/PubMed/16040958" }, { "database": "PubMed", "id": "22171320", "url": "https://glygen.org/publication/PubMed/22171320" }, { "database": "PubMed", "id": "17488724", "url": "https://glygen.org/publication/PubMed/17488724" } ] } ], "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": [ 25, 69, 81, 238, 253, 272, 326, 352 ], "o_linked_sites": [ 20, 27, 28, 30, 31, 36, 41, 45, 47, 48, 53, 64, 71, 83, 88, 92, 96, 113, 115, 118, 119 ], "snv_sites": [ 28, 30, 31, 36, 48, 64, 69, 71, 75, 81, 88, 92, 96, 113, 115, 118, 135, 156, 190, 196, 253, 273, 274, 293, 306, 337, 352, 354, 420, 428 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 238, "end_pos": 240 }, { "start_pos": 253, "end_pos": 255 }, { "start_pos": 25, "end_pos": 27 }, { "start_pos": 352, "end_pos": 354 }, { "start_pos": 69, "end_pos": 71 }, { "start_pos": 81, "end_pos": 83 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 140 }, { "field": "total_sites", "count": 26 }, { "field": "n_linked_glycans", "count": 58 }, { "field": "n_linked_glycan_sites", "count": 13 }, { "field": "o_linked_glycans", "count": 9 }, { "field": "o_linked_glycan_sites", "count": 20 } ], "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": 16 }, { "field": "total_sites", "count": 16 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 8 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 8 } ], "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": 124 }, { "field": "total_sites", "count": 17 }, { "field": "n_linked_glycans", "count": 58 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 9 }, { "field": "o_linked_glycan_sites", "count": 12 } ], "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": 35 }, { "field": "total_sites", "count": 30 } ], "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": 12 }, { "field": "total_sites", "count": 12 } ], "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": 23 }, { "field": "total_sites", "count": 20 } ], "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": 198 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }