{ "uniprot_canonical_ac": "P02745-1", "uniprot_ac": "P02745", "uniprot_id": "C1QA_HUMAN", "mass": { "chemical_mass": 26017.0, "monoisotopic_mass": 26017.0 }, "refseq": { "ac": "NP_001334394", "name": "complement C1q subcomponent subunit A precursor", "summary": "This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334394" }, "gene_names": [ { "name": "C1QA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02745", "id": "P02745" }, { "name": "C1QA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334394", "id": "NP_001334394" }, { "name": "C1QD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334394", "id": "NP_001334394" } ], "protein_names": [ { "name": "Complement C1q subcomponent subunit A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02745" }, { "name": "complement C1q subcomponent subunit A precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334394", "id": "NP_001334394" }, { "name": "complement component C1q, A chain; complement component 1, q subcomponent, alpha polypeptide; complement C1q subcomponent subunit A; complement component 1, q subcomponent, A chain; complement C1q chain A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334394", "id": "NP_001334394" } ], "function": [ { "annotation": "An integrative analysis of single-cell and bulk transcriptome and bidirectional mendelian randomization analysis identified C1Q as a novel stimulated risk gene for Atherosclerosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001334394", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334394" }, { "database": "PubMed", "id": "38179058", "url": "https://glygen.org/publication/PubMed/38179058" } ] }, { "annotation": "Association between serum complement 1q and the associated factors of acute ischemic stroke in patients with type 2 diabetes.", "evidence": [ { "database": "RefSeq", "id": "NP_001334394", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334394" }, { "database": "PubMed", "id": "37550830", "url": "https://glygen.org/publication/PubMed/37550830" } ] }, { "annotation": "C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745#function" }, { "database": "UniProtKB", "id": "X6RLJ0", "url": "https://www.uniprot.org/uniprot/X6RLJ0#function" }, { "database": "UniProtKB", "id": "ARBA00002781", "url": "https://www.uniprot.org/uniprot/ARBA00002781#function" } ] }, { "annotation": "Complement C1q and von Willebrand factor interaction in atherosclerosis of human carotid artery. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001334394", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334394" }, { "database": "PubMed", "id": "38155969", "url": "https://glygen.org/publication/PubMed/38155969" } ] }, { "annotation": "This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001334394", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334394" } ] } ], "disease": [ { "disease_id": "MONDO:0013343", "recommended_name": { "id": "MONDO:0013343", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013343", "name": "C1Q deficiency", "description": "C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor." }, "synonyms": [ { "id": "MONDO:0013343", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013343", "name": "C1Q deficiency", "description": "" }, { "id": "MONDO:0013343", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013343", "name": "C1QD", "description": "" }, { "id": "MONDO:0013343", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013343", "name": "C1q deficiency", "description": "" }, { "id": "MIM:613652", "resource": "MIM", "url": "https://www.omim.org/entry/613652", "name": "C1q deficiency 1", "description": "C1q deficiency 1" } ], "evidence": [ { "id": "613652", "database": "MIM", "url": "https://www.omim.org/entry/613652" } ] } ], "snv": [ { "evidence": [ { "id": "rs1570073345", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1570073345" }, { "id": "rs1570073345", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1570073345" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 147, "end_pos": 147, "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NHS->NPS).", "chr_id": "1", "chr_pos": "22639109", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H147", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 222, "end_pos": 222, "sequence_org": "K", "sequence_mut": "E", "comment": "Decreases binding to IgM and IgG.", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" }, { "database": "PubMed", "id": "19006321", "url": "https://glygen.org/publication/PubMed/19006321" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173372", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173372" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "87.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173372", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173372" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "94.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173372", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173372" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "85.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173372", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173372" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173372", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173372" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173372", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173372" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "83.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173372", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173372" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173372", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173372" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "82.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173372", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173372" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "94.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173372", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173372" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173372", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173372" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "91.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173372", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173372" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173372", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173372" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P02745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02745" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P02745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02745" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P02745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02745" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P02745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02745" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02745" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P02745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02745" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P02745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02745" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02745" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P02745", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02745" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal 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"https://www.uniprot.org/uniprot/A0A8Q3SI02", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI02-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI02-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI08", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI08", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI08-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI08-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI41", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI41", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI41-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI41-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI59", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI59", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI59-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI59-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI63", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI63", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SI63-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SI63-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02745-1", "url": "https://www.uniprot.org/uniprot/P02745-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6RLJ0", "url": "https://www.uniprot.org/uniprot/X6RLJ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6RLJ0-1", "url": "https://www.uniprot.org/uniprot/X6RLJ0-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGRPGLKGEQGEPGAPGIRTGIQGLKGDQGEPGPSGNPGKVGYPGPSGPLGARGIPGIKGTKGSPGNIKDQPRPAFSAIRRNPPMGGNVVIFDTVITNQEEPYQNHSGRFVCTVPGYYYFTFQVLSQWEICLSIVSSSRGQVRRSLGFCDTTNKGLFQVVSGGMVLQLQQGDQVWVEKDPKKGHIYQGSEADSVFSGFLIFPSA", "length": 245, "header": "sp|P02745-1|C1QA_HUMAN Isoform 1 of Complement C1q subcomponent subunit A OS=Homo sapiens OX=9606 GN=C1QA PE=1 SV=2 CANONICAL=P02745-1" }, "isoforms": [ { "isoform_ac": "A0A8Q3SI02-1", "url": "", "sequence": { "sequence": "MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGRPGLKGEQGEPEKRGLRV", "length": 61, "header": "tr|A0A8Q3SI02-1|A0A8Q3SI02_HUMAN Computationally mapped isoform of Complement C1q A chain OS=Homo sapiens OX=9606 GN=C1QA PE=4 SV=1 CANONICAL=P02745-1" }, "locus": { "chromosome": "1", "start_pos": 22638122, "end_pos": 22637617, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695743.1", "url": "https://www.ensembl.org/id/ENST00000695743.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512136.1", "url": "https://www.ensembl.org/id/ENSP00000512136.1" } ] } }, { "isoform_ac": "A0A8Q3SI08-1", "url": "", "sequence": { "sequence": "MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGRPGLKGEQGEPDEVEAQRG", "length": 62, "header": "tr|A0A8Q3SI08-1|A0A8Q3SI08_HUMAN Computationally mapped isoform of Complement C1q A chain OS=Homo sapiens OX=9606 GN=C1QA PE=4 SV=1 CANONICAL=P02745-1" }, "locus": { "chromosome": "1", "start_pos": 22638672, "end_pos": 22637617, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695746.1", "url": "https://www.ensembl.org/id/ENST00000695746.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512139.1", "url": "https://www.ensembl.org/id/ENSP00000512139.1" } ] } }, { "isoform_ac": "A0A8Q3SI41-1", "url": "", "sequence": { "sequence": "MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGRPGLKGEQGEPAPSGFRDSHSRRKARGNGKGKRS", "length": 77, "header": "tr|A0A8Q3SI41-1|A0A8Q3SI41_HUMAN Computationally mapped isoform of Complement C1q A chain OS=Homo sapiens OX=9606 GN=C1QA PE=4 SV=1 CANONICAL=P02745-1" }, "locus": { "chromosome": "1", "start_pos": 22638379, "end_pos": 22637617, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695741.1", "url": "https://www.ensembl.org/id/ENST00000695741.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512134.1", "url": "https://www.ensembl.org/id/ENSP00000512134.1" } ] } }, { "isoform_ac": "A0A8Q3SI59-1", "url": "", "sequence": { "sequence": "MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGRPGLKGEQGEPAPPTLSLLPPPQPLQASETHILEERPGVMEKGRGPDQSRKGVSWNHPGPPSPKQTRRIT", "length": 113, "header": "tr|A0A8Q3SI59-1|C1QA_HUMAN Computationally mapped isoform of Complement C1q subcomponent subunit A OS=Homo sapiens OX=9606 GN=C1QA PE=1 SV=1 CANONICAL=P02745-1" }, "locus": { "chromosome": "1", "start_pos": 22638452, "end_pos": 22637617, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695742.1", "url": "https://www.ensembl.org/id/ENST00000695742.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512135.1", "url": "https://www.ensembl.org/id/ENSP00000512135.1" } ] } }, { "isoform_ac": "A0A8Q3SI63-1", "url": "", "sequence": { "sequence": "MGGNVVIFDTVITNQEEPYQNHSGRFVCTVPGYYYFTFQVLSQWEICLSIVSSSRGQVRRSLGFCDTTNKGLFQVVSGGMVLQLQQGDQVWVEKDPKKGHIYQGSEADSVFSGFLIFPSA", "length": 120, "header": "tr|A0A8Q3SI63-1|A0A8Q3SI63_HUMAN Computationally mapped isoform of Complement C1q A chain OS=Homo sapiens OX=9606 GN=C1QA PE=1 SV=1 CANONICAL=P02745-1" }, "locus": { "chromosome": "1", "start_pos": 22639404, "end_pos": 22639045, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695745.1", "url": "https://www.ensembl.org/id/ENST00000695745.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512138.1", "url": "https://www.ensembl.org/id/ENSP00000512138.1" } ] } }, { "isoform_ac": "P02745-1", "url": "", "sequence": { "sequence": "MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGRPGLKGEQGEPGAPGIRTGIQGLKGDQGEPGPSGNPGKVGYPGPSGPLGARGIPGIKGTKGSPGNIKDQPRPAFSAIRRNPPMGGNVVIFDTVITNQEEPYQNHSGRFVCTVPGYYYFTFQVLSQWEICLSIVSSSRGQVRRSLGFCDTTNKGLFQVVSGGMVLQLQQGDQVWVEKDPKKGHIYQGSEADSVFSGFLIFPSA", "length": 245, "header": "sp|P02745-1|C1QA_HUMAN Isoform 1 of Complement C1q subcomponent subunit A OS=Homo sapiens OX=9606 GN=C1QA PE=1 SV=2 CANONICAL=P02745-1" }, "locus": { "chromosome": "1", "start_pos": 22639404, "end_pos": 22637617, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000695740.1", "url": "https://www.ensembl.org/id/ENST00000695740.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512133.1", "url": "https://www.ensembl.org/id/ENSP00000512133.1" } ] } }, { "isoform_ac": "X6RLJ0-1", "url": "", "sequence": { "sequence": "MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGRPGLKGEQGEPGAPGIRTGIQGLKGDQGEPGPSGNPGKVGYPGPSGPLGARGIPGIKGTKGSPGNIKDQPRPAFSAIRRNPPMGGNVVIFDTVITNQEEPYQNHSGRFVCTVPGYYYFTFQVLSQWEICLSIVSSSRGQVRRSLGFCDTTNKGLFQVVSGGMVLQLQQGDQVWVEKD", "length": 220, "header": "tr|X6RLJ0-1|X6RLJ0_HUMAN Computationally mapped isoform of Complement C1q subcomponent subunit A OS=Homo sapiens OX=9606 GN=C1QA PE=1 SV=7 CANONICAL=P02745-1" }, "locus": { "chromosome": "1", "start_pos": 22639404, "end_pos": 22637617, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000438241.1", "url": "https://www.ensembl.org/id/ENST00000438241.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000416841.1", "url": "https://www.ensembl.org/id/ENSP00000416841.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-galactosylation", "site_category": "reported", "site_seq": "K", "relation": "attached", "comment": "O-linked (Gal...) hydroxylysine O-galactosylation", "start_pos": 100, "start_aa": "Lys", "end_pos": 100, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys100", "evidence": [ { "id": "P02745", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02745#ptm_processing" }, { "id": "486087", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/486087" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "1142", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1142" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G08293MJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "P02745", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" }, { "id": "P02745@N146", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P02745@N146" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "1142", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1142" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G23863VK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "1142", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1142" }, { "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": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "1142", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1142" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G59626AS", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "P02745@N146", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P02745@N146" } ] }, { "glytoucan_ac": "G81263BG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "1142", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1142" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G83555HU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "P02745", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" }, { "id": "P02745@N146", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P02745@N146" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "1142", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1142" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G86752LQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "P02745", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G88374WZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "P02745", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" }, { "id": "P02745@N146", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P02745@N146" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 146, "start_aa": "Asn", "end_pos": 146, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn146", "evidence": [ { "id": "P02745", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02745#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": "O-linked", "subtype": "O-galactosylation", "site_category": "reported", "site_seq": "K", 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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": "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": "Distinct pathways of mannan-binding lectin (MBL)- and C1-complex autoactivation revealed by reconstitution of MBL with recombinant MBL-associated serine protease-2.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2000", "authors": "Vorup-Jensen T, Petersen SV, Hansen AG, Poulsen K, Schwaeble W, Sim RB, Reid KB, Davis SJ, Thiel S, Jensenius JC", "evidence": [ { "database": "Reactome", "id": "R-HSA-166663", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663" } ], "reference": [ { "type": "PubMed", "id": "10925294", "url": "https://glygen.org/publication/PubMed/10925294" } ] }, { "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": "The biological functions of MBL-associated serine proteases (MASPs).", "journal": "Immunobiology", "date": "2002", "authors": "Hajela K, Kojima M, Ambrus G, Wong KH, Moffatt BE, Ferluga J, Hajela S, Gal P, Sim RB", "evidence": [ { "database": "Reactome", "id": "R-HSA-166663", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663" } ], "reference": [ { "type": "PubMed", "id": "12396008", "url": "https://glygen.org/publication/PubMed/12396008" } ] }, { "title": "Activation of C1r by proteolytic cleavage.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1976", "authors": "Ziccardi RJ, Cooper NR", "evidence": [ { "database": "Reactome", "id": "R-HSA-173623", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-173623" } ], "reference": [ { "type": "PubMed", "id": "1249422", "url": "https://glygen.org/publication/PubMed/1249422" } ] }, { "title": "Modular organization of the carboxyl-terminal, globular head region of human C1q A, B, and C chains.", "journal": "J. Immunol.", "date": "2003", "authors": "Kishore Uday, Gupta Sanjeev K, Perdikoulis Michael V, Kojouharova Mihaela S, Urban Britta C, Reid Kenneth B M", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "reference": [ { "type": "PubMed", "id": "12847249", "url": "https://glygen.org/publication/PubMed/12847249" } ] }, { "title": "The crystal structure of the globular head of complement protein C1q provides a basis for its versatile recognition properties.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Gaboriaud Christine, Juanhuix Jordi, Gruez Arnaud, Lacroix Monique, Darnault Claudine, Pignol David, Verger Denis, Fontecilla-Camps Juan C, Arlaud G\u00e9rard J", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "reference": [ { "type": "PubMed", "id": "12960167", "url": "https://glygen.org/publication/PubMed/12960167" } ] }, { "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": "C'1 ESTERASE EFFECT ON ACTIVITY AND PHYSICOCHEMICAL PROPERTIES OF THE FOURTH COMPONENT OF COMPLEMENT.", "journal": "The Journal of experimental medicine", "date": "1965", "authors": "MUELLER-EBERHARD HJ, LEPOW IH", "evidence": [ { "database": "Reactome", "id": "R-HSA-166663", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663" } ], "reference": [ { "type": "PubMed", "id": "14280442", "url": "https://glygen.org/publication/PubMed/14280442" } ] }, { "title": "The lectin-complement pathway--its role in innate immunity and evolution.", "journal": "Immunological reviews", "date": "2004", "authors": "Fujita T, Matsushita M, Endo Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-166663", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663" } ], "reference": [ { "type": "PubMed", "id": "15199963", "url": "https://glygen.org/publication/PubMed/15199963" } ] }, { "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": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "16079145", "url": "https://glygen.org/publication/PubMed/16079145" } ] }, { "title": "Binding of complement factor H to endothelial cells is mediated by the carboxy-terminal glycosaminoglycan binding site.", "journal": "The American journal of pathology", "date": "2005", "authors": "Jokiranta TS, Cheng ZZ, Seeberger H, Jozsi M, Heinen S, Noris M, Remuzzi G, Ormsby R, Gordon DL, Meri S, Hellwage J, Zipfel PF", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "16192651", "url": "https://glygen.org/publication/PubMed/16192651" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "Journal of proteome research", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745#ptm_processing" }, { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "title": "Levels of expression of complement regulatory proteins CD46, CD55 and CD59 on resting and activated human peripheral blood leucocytes.", "journal": "Immunology", "date": "2006", "authors": "Christmas SE, de la Mata Espinosa CT, Halliday D, Buxton CA, Cummerson JA, Johnson PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "16999828", "url": "https://glygen.org/publication/PubMed/16999828" } ] }, { "title": "Characterization and organization of the genes encoding the A-, B- and C-chains of human complement subcomponent C1q. The complete derived amino acid sequence of human C1q.", "journal": "Biochem. J.", "date": "1991", "authors": "Sellar G C, Blake D J, Reid K B", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "reference": [ { "type": "PubMed", "id": "1706597", "url": "https://glygen.org/publication/PubMed/1706597" } ] }, { "title": "Decay-accelerating factor must bind both components of the complement alternative pathway C3 convertase to mediate efficient decay.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2007", "authors": "Harris CL, Pettigrew DM, Lea SM, Morgan BP", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "17182573", "url": "https://glygen.org/publication/PubMed/17182573" } ] }, { "title": "Crystal structure of CD59: implications for molecular recognition of the complement proteins C8 and C9 in the membrane-attack complex.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "2007", "authors": "Huang Y, Fedarovich A, Tomlinson S, Davies C", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "17505110", "url": "https://glygen.org/publication/PubMed/17505110" } ] }, { "title": "Interaction of human C1q with IgG and IgM: revisited.", "journal": "Biochemistry", "date": "2008-12-09", "authors": "Gadjeva Mihaela G, Rouseva Marieta M, Zlatarova Alexandra S, Reid Kenneth B M, Kishore Uday, Kojouharova Mihaela S", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "reference": [ { "type": "PubMed", "id": "19006321", "url": "https://glygen.org/publication/PubMed/19006321" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745#ptm_processing" }, { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Unique structure of iC3b resolved at a resolution of 24 A by 3D-electron microscopy.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Alcorlo M, Martinez-Barricarte R, Fernandez FJ, Rodriguez-Gallego C, Round A, Vega MC, Harris CL, de Cordoba SR, Llorca O", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "21788512", "url": "https://glygen.org/publication/PubMed/21788512" } ] }, { "title": "Thrombin generates previously unidentified C5 products that support the terminal complement activation pathway.", "journal": "Blood", "date": "2012", "authors": "Krisinger MJ, Goebeler V, Lu Z, Meixner SC, Myles T, Pryzdial EL, Conway EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "22802338", "url": "https://glygen.org/publication/PubMed/22802338" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Dimerization of complement factor H-related proteins modulates complement activation in vivo.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Goicoechea de Jorge E, Caesar JJ, Malik TH, Patel M, Colledge M, Johnson S, Hakobyan S, Morgan BP, Harris CL, Pickering MC, Lea SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "23487775", "url": "https://glygen.org/publication/PubMed/23487775" } ] }, { "title": "Collagen-binding microbial surface components recognizing adhesive matrix molecule (MSCRAMM) of Gram-positive bacteria inhibit complement activation via the classical pathway.", "journal": "J. Biol. Chem.", "date": "2013", "authors": "Kang Mingsong, Ko Ya-Ping, Liang Xiaowen, Ross Can\u00e1 L, Liu Qing, Murray Barbara E, H\u00f6\u00f6k Magnus", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "reference": [ { "type": "PubMed", "id": "23720782", "url": "https://glygen.org/publication/PubMed/23720782" } ] }, { "title": "Endogenous association of decay-accelerating factor (DAF) with C4b and C3b on cell membranes.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1986", "authors": "Kinoshita T, Medof ME, Nussenzweig V", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "2420889", "url": "https://glygen.org/publication/PubMed/2420889" } ] }, { "title": "SC5b-7, SC5b-8 and SC5b-9 complexes of complement: ultrastructure and localization of the S-protein (vitronectin) within the macromolecules.", "journal": "European journal of immunology", "date": "1989", "authors": "Preissner KP, Podack ER, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "2465906", "url": "https://glygen.org/publication/PubMed/2465906" } ] }, { "title": "Complement S-protein (vitronectin) is associated with cytolytic membrane-bound C5b-9 complexes.", "journal": "Clinical and experimental immunology", "date": "1988", "authors": "Bhakdi S, Kaflein R, Halstensen TS, Hugo F, Preissner KT, Mollnes TE", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "2466593", "url": "https://glygen.org/publication/PubMed/2466593" } ] }, { "title": "Functional properties of membrane cofactor protein of complement.", "journal": "The Biochemical journal", "date": "1989", "authors": "Seya T, Atkinson JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "2481448", "url": "https://glygen.org/publication/PubMed/2481448" } ] }, { "title": "Evidence for C1q-mediated crosslinking of CD33/LAIR-1 inhibitory immunoreceptors and biological control of CD33/LAIR-1 expression.", "journal": "Sci. Rep.", "date": "2017", "authors": "Son Myoungsun, Diamond Betty, Volpe Bruce T, Aranow Cynthia B, Mackay Meggan C, Santiago-Schwarz Frances", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "reference": [ { "type": "PubMed", "id": "28325905", "url": "https://glygen.org/publication/PubMed/28325905" } ] }, { "title": "Regulation of the amplification C3 convertase of human complement by an inhibitory protein isolated from human erythrocyte membrane.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1979", "authors": "Fearon DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "293688", "url": "https://glygen.org/publication/PubMed/293688" } ] }, { "title": "Modulation of the classical pathway C3 convertase by plasma proteins C4 binding protein and C3b inactivator.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1979", "authors": "Gigli I, Fujita T, Nussenzweig V", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "293746", "url": "https://glygen.org/publication/PubMed/293746" } ] }, { "title": "Human complement factor I: analysis of cDNA-derived primary structure and assignment of its gene to chromosome 4.", "journal": "The Journal of biological chemistry", "date": "1987", "authors": "Goldberger G, Bruns GA, Rits M, Edge MD, Kwiatkowski DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "2956252", "url": "https://glygen.org/publication/PubMed/2956252" } ] }, { "title": "C1q and Mannose-Binding Lectin Interact with CR1 in the Same Region on CCP24-25 Modules.", "journal": "Front. Immunol.", "date": "2018", "authors": "Jacquet Micka\u00ebl, Cioci Gianluca, Fouet Guillaume, Bally Isabelle, Thielens Nicole M, Gaboriaud Christine, Rossi V\u00e9ronique", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "reference": [ { "type": "PubMed", "id": "29563915", "url": "https://glygen.org/publication/PubMed/29563915" } ] }, { "title": "Site-Specific Profiling of Serum Glycoproteins Using N-Linked Glycan and Glycosite Analysis Revealing Atypical N-Glycosylation Sites on Albumin and alpha-1B-Glycoprotein.", "journal": "Analytical chemistry", "date": "2018", "authors": "Sun S, Hu Y, Jia L, Eshghi ST, Liu Y, Shah P, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P02745", "url": "" }, { "database": "GlyConnect", "id": "1142", "url": "https://glyconnect.expasy.org/browser/proteins/1142" } ], "reference": [ { "type": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "title": "Identification of the C3b receptor-binding domain in third component of complement.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Becherer JD, Lambris JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "2971659", "url": "https://glygen.org/publication/PubMed/2971659" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1142", "url": "https://glyconnect.expasy.org/browser/proteins/1142" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Human complement C3b inactivator: isolation, characterization, and demonstration of an absolute requirement for the serum protein beta1H for cleavage of C3b and C4b in solution.", "journal": "The Journal of experimental medicine", "date": "1977", "authors": "Pangburn MK, Schreiber RD, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "301546", "url": "https://glygen.org/publication/PubMed/301546" } ] }, { "title": "Association between serum complement 1q and the associated factors of acute ischemic stroke in patients with type 2 diabetes.", "journal": "Human & experimental toxicology", "date": "2023", "authors": "Hu Zhen-Ping, Wu Fang, Du Yuan-Hong, Ye Mao", "evidence": [ { "database": "RefSeq", "id": "NP_001334394", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334394" } ], "reference": [ { "type": "PubMed", "id": "37550830", "url": "https://glygen.org/publication/PubMed/37550830" } ] }, { "title": "Complement C1q and von Willebrand factor interaction in atherosclerosis of human carotid artery.", "journal": "Frontiers in immunology", "date": "2023", "authors": "Schulz Kristina, Donat Claudia, Punjabi Mukesh, Glatz Katharina, Kaufmann Beat, Trendelenburg Marten", "evidence": [ { "database": "RefSeq", "id": "NP_001334394", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334394" } ], "reference": [ { "type": "PubMed", "id": "38155969", "url": "https://glygen.org/publication/PubMed/38155969" } ] }, { "title": "An integrative analysis of single-cell and bulk transcriptome and bidirectional mendelian randomization analysis identified C1Q as a novel stimulated risk gene for Atherosclerosis.", "journal": "Frontiers in immunology", "date": "2023", "authors": "Cui Hong-Kai, Tang Chao-Jie, Gao Yu, Li Zi-Ang, Zhang Jian, Li Yong-Dong", "evidence": [ { "database": "RefSeq", "id": "NP_001334394", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334394" } ], "reference": [ { "type": "PubMed", "id": "38179058", "url": "https://glygen.org/publication/PubMed/38179058" } ] }, { "title": "C3 nephritic factor protects bound C3bBb from cleavage by factor I and human erythrocytes.", "journal": "Molecular immunology", "date": "1985", "authors": "Mold C, Medof ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "3848661", "url": "https://glygen.org/publication/PubMed/3848661" } ] }, { "title": "Anaphylatoxin inactivator of human plasma: its isolation and characterization as a carboxypeptidase.", "journal": "The Journal of clinical investigation", "date": "1970", "authors": "Bokisch VA, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "4098172", "url": "https://glygen.org/publication/PubMed/4098172" } ] }, { "title": "Complete amino acid sequences of the three collagen-like regions present in subcomponent C1q of the first component of human complement.", "journal": "The Biochemical journal", "date": "1979", "authors": "Reid KB", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745#ptm_processing" }, { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "reference": [ { "type": "PubMed", "id": "486087", "url": "https://glygen.org/publication/PubMed/486087" } ] }, { "title": "Formation and functional significance of a molecular complex derived from the second and the fourth component of human complement.", "journal": "The Journal of experimental medicine", "date": "1967", "authors": "Muller-Eberhard HJ, Polley MJ, Calcott MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-166663", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663" } ], "reference": [ { "type": "PubMed", "id": "6019133", "url": 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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. I. Isolation and characterization.", "journal": "The Journal of experimental medicine", "date": "1978", "authors": "Scharfstein J, Ferreira A, Gigli I, Nussenzweig V", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "670886", "url": "https://glygen.org/publication/PubMed/670886" } ] }, { "title": "The human complement system: assembly of the classical pathway C3 convertase.", "journal": "The Biochemical journal", "date": "1980", "authors": "Kerr MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6906228", "url": "https://glygen.org/publication/PubMed/6906228" } ] }, { "title": "Completion of the amino acid sequences of the A and B chains of subcomponent C1q of the first component of human complement.", "journal": "Biochem. J.", "date": "1982", "authors": "Reid K B, Gagnon J, Frampton J", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "reference": [ { "type": "PubMed", "id": "6981411", "url": "https://glygen.org/publication/PubMed/6981411" } ] }, { "title": "Human C4-binding protein. II. 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"GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "pmid": "" }, { "name": "synapse pruning", "id": "GO:0098883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098883", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "pmid": "" }, { "name": "complement activation, classical pathway", "id": "GO:0006958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "pmid": "" }, { "name": "complement activation", "id": "GO:0006956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006956", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "pmid": "" }, { "name": "complement-mediated synapse pruning", "id": "GO:0150062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150062", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "pmid": "" }, { "name": "vertebrate eye-specific patterning", "id": "GO:0150064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150064", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "pmid": "" }, { "name": "collagen trimer", "id": "GO:0005581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005581", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "pmid": "" }, { "name": "complement component C1 complex", "id": "GO:0005602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005602", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "pmid": "" }, { "name": "complement component C1q complex", "id": "GO:0062167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062167", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "complement C1q subcomponent subunit A N-glycosylated 1 (human)", "definition": "A complement C1q subcomponent subunit A (human) that has been N-glycosylated at the residue equivalent to Asn-146 of the amino acid sequence represented by UniProtKB:P02745-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P02745-1, Asn-146, MOD:00160~GNO:G08293MJ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000052736", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052736" } ] }, { "name": "complement C1q subcomponent subunit A N-glycosylated 2 (human)", "definition": "A complement C1q subcomponent subunit A (human) that has been N-glycosylated at the residue equivalent to Asn-146 of the amino acid sequence represented by UniProtKB:P02745-1, in which the glycan composition is represented by GlyTouCan:G83555HU. Example: UniProtKB:P02745-1, Asn-146, MOD:00160~GNO:G83555HU. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000052737", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052737" } ] }, { "name": "complement C1q subcomponent subunit A N-glycosylated 3 (human)", "definition": "A complement C1q subcomponent subunit A (human) that has been N-glycosylated at the residue equivalent to Asn-146 of the amino acid sequence represented by UniProtKB:P02745-1, in which the glycan composition is represented by GlyTouCan:G86752LQ. Example: UniProtKB:P02745-1, Asn-146, MOD:00160~GNO:G86752LQ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000052738", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052738" } ] }, { "name": "complement C1q subcomponent subunit A N-glycosylated 4 (human)", "definition": "A complement C1q subcomponent subunit A (human) that has been N-glycosylated at the residue equivalent to Asn-146 of the amino acid sequence represented by UniProtKB:P02745-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P02745-1, Asn-146, MOD:00160~GNO:G88374WZ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000052739", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000052739" } ] } ], "site_annotation": [ { "start_pos": 146, "end_pos": 148, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "O-linked glycans are assumed to be the Glc-Gal disaccharides typically found as secondary modifications of hydroxylated lysines in collagen-like domains.", "evidence": [ { "database": "UniProtKB", "id": "P02745", "url": "https://www.uniprot.org/uniprot/P02745" }, { "database": "PubMed", "id": "486087", "url": "https://glygen.org/publication/PubMed/486087" } ] } ], "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": [ 146 ], "o_linked_sites": [ 33, 48, 67, 100 ], "snv_sites": [ 147 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 146, "end_pos": 148 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 16 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 11 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "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": 4 } ], "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": 11 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 11 }, { "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_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": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "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": 76 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }