{ "uniprot_canonical_ac": "P07357-1", "uniprot_ac": "P07357", "uniprot_id": "CO8A_HUMAN", "mass": { "chemical_mass": 65163.0, "monoisotopic_mass": 65163.0 }, "refseq": { "ac": "NP_000553", "name": "complement component C8 alpha chain preproprotein", "summary": "C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000553" }, "gene_names": [ { "name": "C8A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07357", "id": "P07357" }, { "name": "C8A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000553", "id": "NP_000553" } ], "protein_names": [ { "name": "Complement component C8 alpha chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07357" }, { "name": "Complement component 8 subunit alpha", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07357" }, { "name": "complement component C8 alpha chain preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000553", "id": "NP_000553" }, { "name": "complement component C8 alpha chain; complement component 8 subunit alpha; complement component 8, alpha polypeptide; complement component 8 alpha subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000553", "id": "NP_000553" } ], "function": [ { "annotation": "A Point Mutation Creating a 3' Splice Site in C8A Is a Predominant Cause of C8alpha-gamma Deficiency in African Americans.", "evidence": [ { "database": "RefSeq", "id": "NP_000553", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000553" }, { "database": "PubMed", "id": "32769119", "url": "https://glygen.org/publication/PubMed/32769119" } ] }, { "annotation": "C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause complement C8 alpha-gamma deficiency. [provided by RefSeq, Nov 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000553", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000553" } ] }, { "annotation": "Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C8A inserts into the target membrane, but does not form pores by itself.", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357#function" }, { "database": "PubMed", "id": "17872444", "url": "https://glygen.org/publication/PubMed/17872444" }, { "database": "PubMed", "id": "7440581", "url": "https://glygen.org/publication/PubMed/7440581" } ] }, { "annotation": "These data provide a detailed specification of co-occurring C8 proteoforms, including experimental evidence on N-glycosylation, C-mannosylation, and O-glycosylation.", "evidence": [ { "database": "RefSeq", "id": "NP_000553", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000553" }, { "database": "PubMed", "id": "29532326", "url": "https://glygen.org/publication/PubMed/29532326" } ] } ], "disease": [ { "disease_id": "DOID:0060301", "recommended_name": { "id": "DOID:0060301", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060301", "name": "type I complement component 8 deficiency", "description": "A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes." }, "synonyms": [ { "id": "MONDO:0013422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013422", "name": "type I complement component 8 deficiency", "description": "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene." }, { "id": "MONDO:0013422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013422", "name": "C8 deficiency, type I", "description": "" }, { "id": "MONDO:0013422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013422", "name": "C8A classic complement early component deficiency", "description": "" }, { "id": "MONDO:0013422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013422", "name": "classic complement early component deficiency caused by mutation in C8A", "description": "" }, { "id": "MONDO:0013422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013422", "name": "C8 Alpha-gamma deficiency", "description": "" }, { "id": "MONDO:0013422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013422", "name": "C8 deficiency type I", "description": "" }, { "id": "MONDO:0013422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013422", "name": "C8 deficiency, type 1", "description": "" }, { "id": "MONDO:0013422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013422", "name": "C81 deficiency", "description": "" }, { "id": "MONDO:0013422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013422", "name": "C8Ag deficiency", "description": "" }, { "id": "MONDO:0013422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013422", "name": "C8D1", "description": "" }, { "id": "MONDO:0013422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013422", "name": "complement component 8 deficiency type 1", "description": "" }, { "id": "MONDO:0013422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013422", "name": "complement component 8 deficiency type I", "description": "" }, { "id": "MONDO:0013422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013422", "name": "complement component 8 deficiency, type 1", "description": "" }, { "id": "MONDO:0013422", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013422", "name": "complement component 8 deficiency, type I", "description": "" }, { "id": "MIM:613790", "resource": "MIM", "url": "https://www.omim.org/entry/613790", "name": "Complement component 8 deficiency, 1", "description": "Complement component 8 deficiency, 1" } ], "evidence": [ { "id": "613790", "database": "MIM", "url": "https://www.omim.org/entry/613790" } ] } ], "snv": [ { "evidence": [ { "id": "P07357", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07357" }, { "id": "rs940831429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs940831429" }, { "id": "rs940831429", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs940831429" }, { "id": "rs940831429", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs940831429#frequency_tab" }, { "id": "rs940831429", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs940831429" }, { "id": "22842228", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22842228" }, { "id": "24265154", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24265154" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 169, "end_pos": 169, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "1", "chr_pos": "56881485", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D169", "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: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", "ebi" ] }, { "evidence": [ { "id": "rs1005803826", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1005803826" }, { "id": "rs1005803826", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1005803826#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 225, "end_pos": 225, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ISS->NSS).", "chr_id": "1", "chr_pos": "56883500", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1213142751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213142751" }, { "id": "rs1213142751", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213142751" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 234, "end_pos": 234, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAN->NAS).", "chr_id": "1", "chr_pos": "56883527", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N234", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1439450669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439450669" }, { "id": "rs1439450669", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1439450669#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 292, "end_pos": 292, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IFT->NFT).", "chr_id": "1", "chr_pos": "56885946", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1263317056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1263317056" }, { "id": "rs1263317056", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1263317056#frequency_tab" }, { "id": "rs1263317056", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1263317056" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 342, "end_pos": 342, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ITS->NTS).", "chr_id": "1", "chr_pos": "56886096", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I342", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P07357", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07357" } ], "glycoeffect": [], "start_pos": 35, "end_pos": 35, "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": "1", "chr_pos": "56867634", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A35", "disease": [ { "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", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "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, 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"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": 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"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": 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"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", 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"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", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P07357", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07357" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P07357-1", "url": "https://www.uniprot.org/uniprot/P07357-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFAVVFFILSLMTCQPGVTAQEKVNQRVRRAATPAAVTCQLSNWSEWTDCFPCQDKKYRHRSLLQPNKFGGTICSGDIWDQASCSSSTTCVRQAQCGQDFQCKETGRCLKRHLVCNGDQDCLDGSDEDDCEDVRAIDEDCSQYEPIPGSQKAALGYNILTQEDAQSVYDASYYGGQCETVYNGEWRELRYDSTCERLYYGDDEKYFRKPYNFLKYHFEALADTGISSEFYDNANDLLSKVKKDKSDSFGVTIGIGPAGSPLLVGVGVSHSQDTSFLNELNKYNEKKFIFTRIFTKVQTAHFKMRKDDIMLDEGMLQSLMELPDQYNYGMYAKFINDYGTHYITSGSMGGIYEYILVIDKAKMESLGITSRDITTCFGGSLGIQYEDKINVGGGLSGDHCKKFGGGKTERARKAMAVEDIISRVRGGSSGWSGGLAQNRSTITYRSWGRSLKYNPVVIDFEMQPIHEVLRHTSLGPLEAKRQNLRRALDQYLMEFNACRCGPCFNNGVPILEGTSCRCQCRLGSLGAACEQTQTEGAKADGSWSCWSSWSVCRAGIQERRRECDNPAPQNGGASCPGRKVQTQAC", "length": 584, "header": "sp|P07357-1|CO8A_HUMAN Isoform 1 of Complement component C8 alpha chain OS=Homo sapiens OX=9606 GN=C8A PE=1 SV=2 CANONICAL=P07357-1" }, "isoforms": [ { "isoform_ac": "A0A8Q3WKN0-1", "url": "", "sequence": { "sequence": "MFAVVFFILSLMTCQPGVTAQEKVNQRVRRAATPAAVTCQLSNWSEWTDCFPCQDKKYRHRSLLQPNKFGGTICSGDIWDQASCSSSTTCVRQAQCGQDFQCKETGRCLKRHLVCNGDQDCLDGSDEDDCEDVRAIDEDCSQYEPIPGSQKAALGPWQILESPQSFMIMQMTFFPKLKKTSLTHLE", "length": 186, "header": "tr|A0A8Q3WKN0-1|A0A8Q3WKN0_HUMAN Computationally mapped isoform of Complement C8 alpha chain OS=Homo sapiens OX=9606 GN=C8A PE=1 SV=1 CANONICAL=P07357-1" }, "locus": { "chromosome": "1", "start_pos": 56883574, "end_pos": 56854902, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695679.1", "url": "https://www.ensembl.org/id/ENST00000695679.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512099.1", "url": "https://www.ensembl.org/id/ENSP00000512099.1" } ] } }, { "isoform_ac": "A0A8Q3WKN4-1", "url": "", "sequence": { "sequence": "MFAVVFFILSLMTCQPGVTAQEKVNQRVRRAATPAAVTCQLSNWSEWTDCFPCQDKKYRHRSLLQPNKFGGTICSGDIWDQASCSSSTTCVRQAQCGQDFQCKETGRCLKRHLVCNGDQDCLDGSDEDDCEDVRAIDEDCSQYEPIPGSQKAALGYNILTQEDAQSVYDASYYGGQCETVYNGEWRELRYDSTCERLYYGDDEKYFRKPYNFLKYHFEALADTGISSEFYDNANDLLSKVKKDKSDSFGVTIGIGPAGSPLLVGVGVSHSQDTSFLNELNKYNEKKFIFTRIFTKVQTAHFKMRKDDIMLDEGMLQSLMELPDQYNYGMYAKFINDYGTHYITSGSMGGIYEYILVIDKAKMESLGITSRDITTCFGGSLGIQYEDKINVGGGLSGDHCKKFGGGKTGKARKAMAVEDIISRVRGGSSGWSGGLAQNRSTITYRSWGRSLKYNPVVIDFEAKRQNLRRALDQYLMEFNACRCGPCFNNGVPILEGTSCRCQCRLGSLGAACEQTQTEGAKADGSWSCWSSWSVCRAGIQERRRECDNPAPQNGGASCPGRKVQTQAC", "length": 567, "header": "tr|A0A8Q3WKN4-1|CO8A_HUMAN Computationally mapped isoform of Complement component C8 alpha chain OS=Homo sapiens OX=9606 GN=C8A PE=1 SV=1 CANONICAL=P07357-1" }, "locus": { "chromosome": "1", "start_pos": 56917713, "end_pos": 56854902, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695677.1", "url": "https://www.ensembl.org/id/ENST00000695677.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512097.1", "url": "https://www.ensembl.org/id/ENSP00000512097.1" } ] } }, { "isoform_ac": "A0A8Q3WKQ2-1", "url": "", "sequence": { "sequence": "MFAVVFFILSLMTCQPGVTAQEKVNQRVRRAATPAAVTCQLSNWSEWTDCFPCQDKKYRHRSLLQPNKFGGTICSGDIWDQASCSSSTTCVRQAQCGQDFQCKETGRCLKRHLVCNGDQDCLDGSDEDDCEDVRAIDEDCSQYEPIPGSQKAALGYNILTQEDAQSVYDASYYGGQCETVYNGEWRELRYDSTCERLYYGDDEKYFRKPYNFLKYHFEALADTGISSEFYDNANDLLSKVKKDKSDSFGVTIGIGPAGSPLLVGVGVSHSQDTSFLNELNKYNEKKFIFTRIFTKVQTAHFKMRKDDIMLDEGMLQSLMELPDQYNYGMYAKFINDYGTHYITSGSMGGIYEYILVIDKAKMESLGITSRDITTCFGGSLGIQY", "length": 384, "header": "tr|A0A8Q3WKQ2-1|CO8A_HUMAN Computationally mapped isoform of Complement component C8 alpha chain OS=Homo sapiens OX=9606 GN=C8A PE=1 SV=1 CANONICAL=P07357-1" }, "locus": { "chromosome": "1", "start_pos": 56906722, "end_pos": 56854902, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695723.1", "url": "https://www.ensembl.org/id/ENST00000695723.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512121.1", "url": "https://www.ensembl.org/id/ENSP00000512121.1" } ] } }, { "isoform_ac": "A0A8Q3WKT7-1", "url": "", "sequence": { "sequence": "MFAVVFFILSLMTCQPGVTAQEKVNQRVRRAATPAAVTCQLSNWSEWTDCFPCQDKKYRHRSLLQPNKFGGTICSGDIWDQASCSSSTTCVRQAQCGQDFQCKETGRCLKRHLVCNGDQDCLDGSDEDDCEDVRAIDEDCSQYEPIPGSQKAALGYNILTQEDAQSVYDASYYGGQCETVYNGEWRELRYDSTCERLYYGDDEKYFRKPYNFLKYHFEALADTGISSEFYDNANDLLSKVKKDKSDSFGVTIGIGPAGSPLLKFIFTRIFTKVQTAHFKMRKDDIMLDEGMLQSLMELPDQYNYGMYAKFINDYGTHYITSGSMGGIYEYILVIDKAKMESLGITSRDITTCFGGSLGIQYEDKINVGGGLSGDHCKKFGGGKTERARKAMAVEDIISRVRGGSSGWSGGLAQNRSTITYRSWGRSLKYNPVVIDFEMQPIHEVLRHTSLGPLEAKRQNLRRALDQYLMEFNACRCGPCFNNGVPILEGTSCRCQCRLGSLGAACEQTQTEGAKADGSWSCWSSWSVCRAGIQERRRECDNPAPQNGGASCPGRKVQTQAC", "length": 561, "header": "tr|A0A8Q3WKT7-1|CO8A_HUMAN Computationally mapped isoform of Complement component C8 alpha chain OS=Homo sapiens OX=9606 GN=C8A PE=1 SV=1 CANONICAL=P07357-1" }, "locus": { "chromosome": "1", "start_pos": 56917713, "end_pos": 56854902, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695681.1", "url": "https://www.ensembl.org/id/ENST00000695681.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512100.1", "url": "https://www.ensembl.org/id/ENSP00000512100.1" } ] } }, { "isoform_ac": "A0A8Q3WL79-1", "url": "", "sequence": { "sequence": "MFAVVFFILSLMTCQPGVTAQEKVNQRVRRAATPAAVTCQLSNWSEWTDCFPCQDKKYRHRSLLQPNKFGGTICSGDIWDQASCSSSTTCVRQAQCGQDFQCKETGRCLKRHLVCNGDQDCLDGSDEDDCEDVRAIDEDCSQYEPIPGSQKAALGYNILTQEDAQSVYDASYYGGQCETVYNGEWRELRYDSTCERLYYGDDEKYFRKPYNFLKYHFEALADTGISSEFYDNANDLLSKVKKDKSDSFGVTIGIGPAGSPLLVGVGVSHSQDTSFLNELNKYNEKKFIFTRIFTKVQTAHFKMRKDDIMLDEGMLQSLMELPDQYNYGMYAKFINDYGTHYITSGSMGGIYEYILVIDKAKMESLGITSRDITTCFGGSLGIQYEDKINVGGGLSGDHCKKFGGGKTGKARKAMAVEDIISRVRGGSSGWSGGLAQNRSTITYRSWGRSLKYNPVVIDFEMQPIHEVLRHTSLGPLEAKRQNLRRALDQYLMEFNACRCGPCFNNGVPILEGTSCRCQCRLGSLGAACEQTQTEGAKADGSWSCWSSWSVCRAGIQERRRECDNPAPQNGGASCPGRKVQTQAC", "length": 584, "header": "tr|A0A8Q3WL79-1|CO8A_HUMAN Computationally mapped isoform of Complement component C8 alpha chain OS=Homo sapiens OX=9606 GN=C8A PE=1 SV=1 CANONICAL=P07357-1" }, "locus": { "chromosome": "1", "start_pos": 56917713, "end_pos": 56854902, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695678.1", "url": "https://www.ensembl.org/id/ENST00000695678.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512098.1", "url": "https://www.ensembl.org/id/ENSP00000512098.1" } ] } }, { "isoform_ac": "P07357-1", "url": "", "sequence": { "sequence": "MFAVVFFILSLMTCQPGVTAQEKVNQRVRRAATPAAVTCQLSNWSEWTDCFPCQDKKYRHRSLLQPNKFGGTICSGDIWDQASCSSSTTCVRQAQCGQDFQCKETGRCLKRHLVCNGDQDCLDGSDEDDCEDVRAIDEDCSQYEPIPGSQKAALGYNILTQEDAQSVYDASYYGGQCETVYNGEWRELRYDSTCERLYYGDDEKYFRKPYNFLKYHFEALADTGISSEFYDNANDLLSKVKKDKSDSFGVTIGIGPAGSPLLVGVGVSHSQDTSFLNELNKYNEKKFIFTRIFTKVQTAHFKMRKDDIMLDEGMLQSLMELPDQYNYGMYAKFINDYGTHYITSGSMGGIYEYILVIDKAKMESLGITSRDITTCFGGSLGIQYEDKINVGGGLSGDHCKKFGGGKTERARKAMAVEDIISRVRGGSSGWSGGLAQNRSTITYRSWGRSLKYNPVVIDFEMQPIHEVLRHTSLGPLEAKRQNLRRALDQYLMEFNACRCGPCFNNGVPILEGTSCRCQCRLGSLGAACEQTQTEGAKADGSWSCWSSWSVCRAGIQERRRECDNPAPQNGGASCPGRKVQTQAC", "length": 584, "header": "sp|P07357-1|CO8A_HUMAN Isoform 1 of Complement component C8 alpha chain OS=Homo sapiens OX=9606 GN=C8A PE=1 SV=2 CANONICAL=P07357-1" }, "locus": { "chromosome": "1", "start_pos": 56917713, "end_pos": 56854902, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361249.4", "url": "https://www.ensembl.org/id/ENST00000361249.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000354458.3", "url": "https://www.ensembl.org/id/ENSP00000354458.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G00912UN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 437, "start_aa": "Asn", "end_pos": 437, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn437", "evidence": [ { "id": "P07357", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" }, { "id": "P07357@N437", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P07357@N437" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 437, "start_aa": "Asn", "end_pos": 437, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn437", "evidence": [ { "id": "1148", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1148" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G10486CT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 437, "start_aa": "Asn", "end_pos": 437, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn437", "evidence": [ { "id": "P07357", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 437, "start_aa": "Asn", "end_pos": 437, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn437", "evidence": [ { "id": "1148", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1148" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G50045TK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 437, "start_aa": "Asn", "end_pos": 437, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn437", "evidence": [ { "id": "1148", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1148" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G59626AS", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 437, "start_aa": "Asn", "end_pos": 437, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn437", "evidence": [ { "id": "P07357", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 437, "start_aa": "Asn", "end_pos": 437, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn437", "evidence": [ { "id": "P07357", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07357#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "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": "", "type": "C-linked", "subtype": "C-mannosylation", "site_category": "reported", "site_seq": "W", "relation": "attached", "comment": "C-linked (Man) tryptophan C-mannosylation", "start_pos": 44, "start_aa": "Trp", "end_pos": 44, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp44", "evidence": [ { "id": "P07357", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07357#ptm_processing" }, { "id": "10551839", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10551839" } ] }, { "glytoucan_ac": "", "type": "C-linked", "subtype": "C-mannosylation", "site_category": "reported", "site_seq": "W", "relation": "attached", "comment": "C-linked (Man) tryptophan C-mannosylation", "start_pos": 542, "start_aa": "Trp", "end_pos": 542, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp542", "evidence": [ { "id": "P07357", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07357#ptm_processing" }, { "id": "10551839", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10551839" } ] }, { "glytoucan_ac": "", "type": "C-linked", "subtype": "C-mannosylation", "site_category": "reported", "site_seq": "W", "relation": "attached", "comment": "C-linked (Man) tryptophan C-mannosylation", "start_pos": 545, "start_aa": "Trp", "end_pos": 545, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp545", "evidence": [ { "id": "P07357", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07357#ptm_processing" }, { "id": "10551839", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10551839" } ] }, { "glytoucan_ac": "", "type": "C-linked", "subtype": "C-mannosylation", "site_category": "reported", "site_seq": "W", "relation": "attached", "comment": "C-linked (Man) tryptophan C-mannosylation", "start_pos": 548, "start_aa": "Trp", "end_pos": 548, "end_aa": "Trp", "residue": "Trp", "site_lbl": "Trp548", "evidence": [ { "id": "P07357", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07357#ptm_processing" }, { "id": "10551839", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/10551839" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P07357", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P07357" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 290, "end_pos": 290, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P07357", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07357" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Thr290" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Decay accelerating activity of complement receptor type 1 (CD35). Two active sites are required for dissociating C5 convertases.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Krych-Goldberg M, Hauhart RE, Subramanian VB, Yurcisin BM 2nd, Crimmins DL, Hourcade DE, Atkinson JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "10531307", "url": "https://glygen.org/publication/PubMed/10531307" } ] }, { "title": "The four terminal components of the complement system are C-mannosylated on multiple tryptophan residues.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Hofsteenge J, Blommers M, Hess D, Furmanek A, Miroshnichenko O", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357#ptm_processing" }, { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "reference": [ { "type": "PubMed", "id": "10551839", "url": "https://glygen.org/publication/PubMed/10551839" } ] }, { "title": "Control of the amplification convertase of complement by the plasma protein beta1H.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1976", "authors": "Weiler JM, Daha MR, Austen KF, Fearon DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "1067618", "url": "https://glygen.org/publication/PubMed/1067618" } ] }, { "title": "Decay-accelerating factor (DAF), complement receptor 1 (CR1), and factor H dissociate the complement AP C3 convertase (C3bBb) via sites on the type A domain of Bb.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Hourcade DE, Mitchell L, Kuttner-Kondo LA, Atkinson JP, Medof ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "11694537", "url": "https://glygen.org/publication/PubMed/11694537" } ] }, { "title": "Inactivation of C3a and C5a octapeptides by carboxypeptidase R and carboxypeptidase N.", "journal": "Microbiology and immunology", "date": "2002", "authors": "Campbell WD, Lazoura E, Okada N, Okada H", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "11939578", "url": "https://glygen.org/publication/PubMed/11939578" } ] }, { "title": "Role of membrane cofactor protein (CD46) in regulation of C4b and C3b deposited on cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2002", "authors": "Barilla-LaBarca ML, Liszewski MK, Lambris JD, Hourcade D, Atkinson JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "12055245", "url": "https://glygen.org/publication/PubMed/12055245" } ] }, { "title": "Factor I-dependent inactivation of human complement C4b of the classical pathway by C3b/C4b receptor (CR1, CD35) and membrane cofactor protein (MCP, CD46).", "journal": "Journal of biochemistry", "date": "1992", "authors": "Masaki T, Matsumoto M, Nakanishi I, Yasuda R, Seya T", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "1386357", "url": "https://glygen.org/publication/PubMed/1386357" } ] }, { "title": "Insights into the human CD59 complement binding interface toward engineering new therapeutics.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Huang Y, Smith CA, Song H, Morgan BP, Abagyan R, Tomlinson S", "evidence": [ { "database": 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"PubMed", "id": "4098172", "url": "https://glygen.org/publication/PubMed/4098172" } ] }, { "title": "Molecular organization of C9 within the membrane attack complex of complement. Induction of circular C9 polymerization by the C5b-8 assembly.", "journal": "The Journal of experimental medicine", "date": "1982", "authors": "Podack ER, Tschoop J, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-166665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166665" } ], "reference": [ { "type": "PubMed", "id": "6177822", "url": "https://glygen.org/publication/PubMed/6177822" } ] }, { "title": "Generation of three different fragments of bound C3 with purified factor I or serum. I. Requirements for factor H vs CR1 cofactor activity.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1982", "authors": "Ross GD, Lambris JD, Cain JA, Newman SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6214588", "url": "https://glygen.org/publication/PubMed/6214588" } ] }, { "title": "Kinetic and thermodynamic analysis of the control of C3b by the complement regulatory proteins factors H and I.", "journal": "Biochemistry", "date": "1983", "authors": "Pangburn MK, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6219696", "url": "https://glygen.org/publication/PubMed/6219696" } ] }, { "title": "Visualization of human C4b-binding protein and its complexes with vitamin K-dependent protein S and complement protein C4b.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1983", "authors": "Dahlback B, Smith CA, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6222381", "url": "https://glygen.org/publication/PubMed/6222381" } ] }, { "title": "Identification of a 145,000 Mr membrane protein as the C3d receptor (CR2) of human B lymphocytes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1984", "authors": "Weis JJ, Tedder TF, Fearon DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6230668", "url": "https://glygen.org/publication/PubMed/6230668" } ] }, { "title": "Inhibition of complement activation on the surface of cells after incorporation of decay-accelerating factor (DAF) into their membranes.", "journal": "The Journal of experimental medicine", "date": "1984", "authors": "Medof ME, Kinoshita T, Nussenzweig V", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6238120", "url": "https://glygen.org/publication/PubMed/6238120" } ] }, { "title": "Characterization of the interaction of human C4b-binding protein with physiological ligands.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Ziccardi RJ, Dahlback B, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6334079", "url": "https://glygen.org/publication/PubMed/6334079" } ] }, { "title": "High molecular weight complex in human plasma between vitamin K-dependent protein S and complement component C4b-binding protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1981", "authors": "Dahlback B, Stenflo J", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6454142", "url": "https://glygen.org/publication/PubMed/6454142" } ] }, { "title": "Physiologic inactivation of fluid phase C3b: isolation and structural analysis of C3c, C3d,g (alpha 2D), and C3g.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1984", "authors": "Davis AE 3rd, Harrison RA, Lachmann PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6607952", "url": "https://glygen.org/publication/PubMed/6607952" } ] }, { "title": "Human C4-binding protein. 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Role in proteolysis of C4b by C3b-inactivator.", "journal": "The Journal of experimental medicine", "date": "1978", "authors": "Fujita T, Gigli I, Nussenzweig V", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "702059", "url": "https://glygen.org/publication/PubMed/702059" } ] }, { "title": "Cleavage of C4b by C3b inactivator: production of a nicked form of C4b, C4b', as an intermediate cleavage product of C4b by C3b inactivator.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1980", "authors": "Nagasawa S, Ichihara C, Stroud RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "7391570", "url": "https://glygen.org/publication/PubMed/7391570" } ] }, { "title": "The eighth component of human complement. Purification and physicochemical characterization of its unusual subunit structure.", "journal": "The Journal of biological chemistry", "date": "1980-12-25", "authors": "Steckel E W, York R G, Monahan J B, Sodetz J M", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "reference": [ { "type": "PubMed", "id": "7440581", "url": "https://glygen.org/publication/PubMed/7440581" } ] }, { "title": "Complement inhibition by human vitronectin involves non-heparin binding domains.", "journal": "Clinical and experimental immunology", "date": "1995", "authors": "Sheehan M, Morris CA, Pussell BA, Charlesworth JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "7542572", "url": "https://glygen.org/publication/PubMed/7542572" } ] }, { "title": "Interaction of C1-inhibitor with the C1r and C1s subcomponents in human C1.", "journal": "Biochimica et biophysica acta", "date": "1979", "authors": "Arlaud GJ, Reboul A, Sim RB, Colomb MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "760802", "url": "https://glygen.org/publication/PubMed/760802" } ] }, { "title": "Interaction of 125I-labelled complement subcomponents C-1r and C-1s with protease inhibitors in plasma.", "journal": "FEBS letters", "date": "1979", "authors": "Sim RB, Reboul A, Arlaud GJ, Villiers CL, Colomb MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "761607", "url": "https://glygen.org/publication/PubMed/761607" } ] }, { "title": "The eighth component of human complement: molecular basis of C8A (C81) polymorphism.", "journal": "Human genetics", "date": "1995", "authors": "Zhang L, Rittner C, Sodetz JM, Schneider PM, Kaufmann T", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "reference": [ { "type": "PubMed", "id": "7649542", "url": "https://glygen.org/publication/PubMed/7649542" } ] }, { "title": "Functional dissection of the CD21/CD19/TAPA-1/Leu-13 complex of B lymphocytes.", "journal": "The Journal of experimental medicine", "date": "1993", "authors": "Matsumoto AK, Martin DR, Carter RH, Klickstein LB, Ahearn JM, Fearon DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "7690834", "url": "https://glygen.org/publication/PubMed/7690834" } ] }, { "title": "Interactions of soluble CD59 with the terminal complement complexes. 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Genet.", "date": "1995", "authors": "Michelotti G A, Snider J V, Sodetz J M", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "reference": [ { "type": "PubMed", "id": "7759071", "url": "https://glygen.org/publication/PubMed/7759071" } ] }, { "title": "Clusterin, the human apolipoprotein and complement inhibitor, binds to complement C7, C8 beta, and the b domain of C9.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1993", "authors": "Tschopp J, Chonn A, Hertig S, French LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "8345200", "url": "https://glygen.org/publication/PubMed/8345200" } ] }, { "title": "Covalent binding properties of the human complement protein C4 and hydrolysis rate of the internal thioester upon activation.", "journal": "Protein science : a publication of the Protein Society", "date": "1993", "authors": "Sepp A, Dodds AW, Anderson MJ, Campbell RD, Willis AC, Law SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "8495193", "url": "https://glygen.org/publication/PubMed/8495193" } ] }, { "title": "Localization of classical and alternative pathway regulatory activity within the decay-accelerating factor.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1996", "authors": "Brodbeck WG, Liu D, Sperry J, Mold C, Medof ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "8786315", "url": "https://glygen.org/publication/PubMed/8786315" } ] }, { "title": "Binding of human and rat CD59 to the terminal complement complexes.", "journal": "Immunology", "date": "1997", "authors": "Lehto T, 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "pmid": "" }, { "name": "membrane attack complex", "id": "GO:0005579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005579", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "pmid": "" }, { "name": "killing of cells of another organism", "id": "GO:0031640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031640", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "pmid": "" }, { "name": "complement activation, classical pathway", "id": "GO:0006958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "pmid": "" }, { "name": "complement activation, alternative pathway", "id": "GO:0006957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006957", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "pmid": "" }, { "name": "positive regulation of immune response", "id": "GO:0050778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050778", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "pmid": "" }, { "name": "complement activation", "id": "GO:0006956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006956", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "pmid": "" }, { "name": "complement binding", "id": "GO:0001848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001848", "evidence": [ { "database": "UniProtKB", "id": "P07357", "url": "https://www.uniprot.org/uniprot/P07357" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "complement component C8 alpha chain N-glycosylated 1 (human)", "definition": "A complement component C8 alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-437 of the amino acid sequence represented by UniProtKB:P07357-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P07357-1, Asn-437, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053728", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053728" } ] }, { "name": "complement component C8 alpha chain N-glycosylated 2 (human)", "definition": "A complement component C8 alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-437 of the amino acid sequence represented by UniProtKB:P07357-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P07357-1, Asn-437, MOD:00160~GNO:G10486CT. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053729", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053729" } ] }, { "name": "complement component C8 alpha chain N-glycosylated 3 (human)", "definition": "A complement component C8 alpha chain (human) that has been N-glycosylated at the residue equivalent to Asn-437 of the amino acid sequence represented by UniProtKB:P07357-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P07357-1, Asn-437, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053730", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053730" } ] } ], "site_annotation": [ { "start_pos": 437, "end_pos": 439, "annotation": "n_glycosylation_sequon" }, { "start_pos": 43, "end_pos": 45, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 437 ], "o_linked_sites": [], "snv_sites": [ 35, 169, 225, 234, 292, 342, 391, 419, 437, 498, 541 ], "glycation_sites": [], "phosphorylation_sites": [ 290 ], "sequon_annotation_sites": [ { "start_pos": 437, "end_pos": 439 }, { "start_pos": 43, "end_pos": 45 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 6 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 6 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 68 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }