{
"uniprot_canonical_ac": "P00736-1",
"uniprot_ac": "P00736",
"uniprot_id": "C1R_HUMAN",
"mass": {
"chemical_mass": 80119.0,
"monoisotopic_mass": 80119.0
},
"refseq": {
"ac": "NP_001724",
"name": "complement C1r subcomponent isoform 1 preproprotein",
"summary": "This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724"
},
"gene_names": [
{
"name": "C1R",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P00736",
"id": "P00736"
},
{
"name": "C1R",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724",
"id": "NP_001724"
},
{
"name": "EDS8; EDSPD1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724",
"id": "NP_001724"
}
],
"protein_names": [
{
"name": "Complement C1r subcomponent",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P00736"
},
{
"name": "3.4.21.41",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P00736"
},
{
"name": "Complement component 1 subcomponent r",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P00736"
},
{
"name": "complement C1r subcomponent isoform 1 preproprotein",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724",
"id": "NP_001724"
},
{
"name": "complement component 1, r subcomponent; complement C1r subcomponent",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724",
"id": "NP_001724"
}
],
"function": [
{
"annotation": "A familial case of periodontal Ehlers-Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001724",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724"
},
{
"database": "PubMed",
"id": "35365885",
"url": "https://glygen.org/publication/PubMed/35365885"
}
]
},
{
"annotation": "C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome. Erratum:[Front Immunol. 2019 Dec 04;10:2837. PMID: 31879527] Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001724",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724"
},
{
"database": "PubMed",
"id": "31749804",
"url": "https://glygen.org/publication/PubMed/31749804"
}
]
},
{
"annotation": "C1R, CCL2, and TNFRSF1A Genes in Coronavirus Disease-COVID-19 Pathway Serve as Novel Molecular Biomarkers of GBM Prognosis and Immune Infiltration. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001724",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724"
},
{
"database": "PubMed",
"id": "35726234",
"url": "https://glygen.org/publication/PubMed/35726234"
}
]
},
{
"annotation": "C1q binding to surface-bound IgG is stabilized by C1r2s2 proteases.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001724",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724"
},
{
"database": "PubMed",
"id": "34155115",
"url": "https://glygen.org/publication/PubMed/34155115"
}
]
},
{
"annotation": "C1r B chain is a serine protease that combines with C1q and C1s to form C1, the first component of the classical pathway of the complement system.",
"evidence": [
{
"database": "UniProtKB",
"id": "B4DPQ0",
"url": "https://www.uniprot.org/uniprot/B4DPQ0#function"
},
{
"database": "UniProtKB",
"id": "ARBA00002304",
"url": "https://www.uniprot.org/uniprot/ARBA00002304#function"
},
{
"database": "UniProtKB",
"id": "A0A3B3ISR2",
"url": "https://www.uniprot.org/uniprot/A0A3B3ISR2#function"
},
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736#function"
},
{
"database": "UniProtKB",
"id": "F5H2D0",
"url": "https://www.uniprot.org/uniprot/F5H2D0#function"
}
]
},
{
"annotation": "C1r Upregulates Production of Matrix Metalloproteinase-13 and Promotes Invasion of Cutaneous Squamous Cell Carcinoma.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001724",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724"
},
{
"database": "PubMed",
"id": "34756877",
"url": "https://glygen.org/publication/PubMed/34756877"
}
]
},
{
"annotation": "This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001724",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0080986",
"recommended_name": {
"id": "DOID:0080986",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080986",
"name": "Ehlers-Danlos syndrome periodontal type 1",
"description": "An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13."
},
"synonyms": [
{
"id": "MONDO:0020684",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0020684",
"name": "Ehlers-Danlos syndrome, periodontal type 1",
"description": ""
},
{
"id": "MONDO:0020684",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0020684",
"name": "EDS 8",
"description": ""
},
{
"id": "MONDO:0020684",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0020684",
"name": "EDSPD1",
"description": ""
},
{
"id": "MONDO:0020684",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0020684",
"name": "Ehlers-Danlos syndrome, periodontal type, 1",
"description": ""
},
{
"id": "MONDO:0020684",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0020684",
"name": "Ehlers-Danlos syndrome, periodontitis type",
"description": ""
},
{
"id": "MONDO:0020684",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0020684",
"name": "Ehlers-Danlos syndrome, periodontosis type",
"description": ""
},
{
"id": "MONDO:0020684",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0020684",
"name": "Ehlers-Danlos syndrome, type 8",
"description": ""
},
{
"id": "MIM:130080",
"resource": "MIM",
"url": "https://www.omim.org/entry/130080",
"name": "Ehlers-Danlos syndrome, periodontal type, 1",
"description": "Ehlers-Danlos syndrome, periodontal type, 1"
}
],
"evidence": [
{
"id": "130080",
"database": "MIM",
"url": "https://www.omim.org/entry/130080"
}
]
},
{
"disease_id": "MONDO:0009005",
"recommended_name": {
"id": "MONDO:0009005",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009005",
"name": "complement component C1r/C1s deficiency",
"description": "Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae."
},
"synonyms": [
{
"id": "MONDO:0009005",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009005",
"name": "complement component C1r/C1s deficiency",
"description": ""
},
{
"id": "MONDO:0009005",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0009005",
"name": "C1r/C1s deficiency",
"description": ""
}
],
"evidence": [
{
"id": "216950",
"database": "MIM",
"url": "https://www.omim.org/entry/216950"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs1486712464",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1486712464"
},
{
"id": "rs1486712464",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1486712464"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 125,
"end_pos": 125,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).",
"chr_id": "12",
"chr_pos": "7090106",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N125",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs750515595",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750515595"
},
{
"id": "rs750515595",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750515595"
},
{
"id": "rs750515595",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs750515595#frequency_tab"
},
{
"id": "rs750515595",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs750515595"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 127,
"end_pos": 127,
"sequence_org": "T",
"sequence_mut": "I",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGI).",
"chr_id": "12",
"chr_pos": "7090100",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T127",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs747997099",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747997099"
},
{
"id": "rs747997099",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747997099"
},
{
"id": "rs747997099",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs747997099"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 127,
"end_pos": 127,
"sequence_org": "T",
"sequence_mut": "P",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGP).",
"chr_id": "12",
"chr_pos": "7090101",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T127",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs775244665",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775244665"
},
{
"id": "rs775244665",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775244665"
},
{
"id": "rs775244665",
"database": "NCI-TCGA",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775244665"
},
{
"id": "rs775244665",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs775244665#frequency_tab"
},
{
"id": "rs775244665",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs775244665"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 277,
"end_pos": 277,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTS->NTS).",
"chr_id": "12",
"chr_pos": "7088926",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "D277",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs983216881",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs983216881"
},
{
"id": "rs983216881",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs983216881"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 497,
"end_pos": 497,
"sequence_org": "I",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ILT->NLT).",
"chr_id": "12",
"chr_pos": "7081202",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "I497",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs762138868",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762138868"
},
{
"id": "rs762138868",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762138868"
},
{
"id": "rs762138868",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs762138868#frequency_tab"
},
{
"id": "rs762138868",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs762138868"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 514,
"end_pos": 514,
"sequence_org": "N",
"sequence_mut": "K",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->KAS).",
"chr_id": "12",
"chr_pos": "7081108",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N514",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs1305246309",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1305246309"
},
{
"id": "rs1305246309",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs1305246309#frequency_tab"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 514,
"end_pos": 514,
"sequence_org": "N",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->SAS).",
"chr_id": "12",
"chr_pos": "7081109",
"ref_nt": "C",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "N514",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs777652376",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs777652376"
},
{
"id": "rs777652376",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs777652376#frequency_tab"
},
{
"id": "rs777652376",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs777652376"
}
],
"glycoeffect": [
"n-glyco-sequon-loss"
],
"start_pos": 515,
"end_pos": 515,
"sequence_org": "A",
"sequence_mut": "P",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NPS).",
"chr_id": "12",
"chr_pos": "7081107",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "A515",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs769272957",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769272957"
},
{
"id": "rs769272957",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769272957"
},
{
"id": "rs769272957",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs769272957"
}
],
"glycoeffect": [
"n-glyco-sequon-gain",
"o-glyco-site-loss"
],
"start_pos": 566,
"end_pos": 566,
"sequence_org": "S",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVT->NVT).",
"chr_id": "12",
"chr_pos": "7080953",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "S566",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs759255819",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759255819"
},
{
"id": "rs759255819",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs759255819#frequency_tab"
},
{
"id": "rs759255819",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs759255819"
}
],
"glycoeffect": [
"n-glyco-sequon-loss",
"o-glyco-site-loss"
],
"start_pos": 583,
"end_pos": 583,
"sequence_org": "T",
"sequence_mut": "I",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->NDI).",
"chr_id": "12",
"chr_pos": "7080902",
"ref_nt": "A",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "T583",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs771080279",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771080279"
},
{
"id": "rs771080279",
"database": "ExAC",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771080279"
},
{
"id": "rs771080279",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs771080279"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 630,
"end_pos": 630,
"sequence_org": "M",
"sequence_mut": "T",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRM->NRT).",
"chr_id": "12",
"chr_pos": "7080761",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "M630",
"keywords": [
"ebi",
"germline"
]
}
],
"mutagenesis": [],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "90.81",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159403",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159403"
}
]
},
{
"tissue": {
"name": "Oral cavity",
"namespace": "UBERON",
"id": "0000167",
"url": "http://purl.obolibrary.org/obo/UBERON_0000167"
},
"score": "93.35",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159403",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159403"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "97.94",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159403",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159403"
}
]
},
{
"tissue": {
"name": "Uterus",
"namespace": "UBERON",
"id": "0000995",
"url": "http://purl.obolibrary.org/obo/UBERON_0000995"
},
"score": "97.84",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159403",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159403"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "99.71",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159403",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159403"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "98.63",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159403",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159403"
}
]
},
{
"tissue": {
"name": "Colon",
"namespace": "UBERON",
"id": "0001155",
"url": "http://purl.obolibrary.org/obo/UBERON_0001155"
},
"score": "95.26",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159403",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159403"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "98.31",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159403",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159403"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "97.93",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159403",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159403"
}
]
},
{
"tissue": {
"name": "Lung",
"namespace": "UBERON",
"id": "0002048",
"url": "http://purl.obolibrary.org/obo/UBERON_0002048"
},
"score": "95.28",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159403",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159403"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "99.66",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159403",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159403"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "98.12",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159403",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159403"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "98.12",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000159403",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159403"
}
]
}
],
"expression_disease": [
{
"significant": "No",
"trend": "down",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P00736",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00736"
}
],
"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": "down",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "P00736",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00736"
}
],
"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": "Yes",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "P00736",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00736"
}
],
"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": "No",
"trend": "up",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "P00736",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00736"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "P00736",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00736"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "P00736",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00736"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P00736",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00736"
}
],
"disease": [
{
"disease_id": "DOID:1781",
"recommended_name": {
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid cancer",
"description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
},
"synonyms": [
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid gland cancer",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "Thyroid gland neoplasm",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant tumour of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "P00736",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00736"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "P00736",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00736"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P00736",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00736"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "No",
"trend": "down",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "P00736",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00736"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the middle third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of abdominal oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the middle third of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Aerodigestive tract cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Escc, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "gastric cardia adenocarcinoma, susceptibility to",
"description": ""
},
{
"id": "MIM:133239",
"resource": "MIM",
"url": "https://www.omim.org/entry/133239",
"name": "Esophageal cancer",
"description": "Esophageal cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Colorectal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:9256",
"evidence": [
{
"database": "BioXpress",
"id": "P00736",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00736"
}
],
"disease": [
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectum cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectal tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant colorectum neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large bowel tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine neoplasm",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumor",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant large intestine tumour",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant neoplasm of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumor of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "malignant tumour of the large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "CRC",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "large intestine cancer",
"description": ""
},
{
"id": "MIM:114500",
"resource": "MIM",
"url": "https://www.omim.org/entry/114500",
"name": "Colorectal cancer",
"description": "Colorectal cancer"
}
]
}
]
}
],
"species": [
{
"name": "Homo sapiens",
"taxid": 9606,
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"common_name": "Human"
}
],
"gene": [
{
"name": "C1R",
"url": "https://www.uniprot.org/uniprot/P00736",
"locus": {
"chromosome": "HG1398_PATCH",
"start_pos": 8669,
"end_pos": 20226,
"strand": "+",
"evidence": [
{
"database": "Ensembl Gene",
"id": "ENSG00000288512",
"url": "https://www.ensembl.org/id/ENSG00000288512"
}
]
}
}
],
"crossref": [
{
"id": "ENSG00000159403",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000159403",
"database": "Bgee",
"categories": [
"Gene Expression"
]
},
{
"id": "3.4.21.41",
"url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.4.21.41&UniProtAcc=P00736",
"database": "BRENDA",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "cd00033",
"url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00033",
"database": "CDD",
"categories": [
"Protein Classification"
]
},
{
"id": "cd00041",
"url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00041",
"database": "CDD",
"categories": [
"Protein Classification"
]
},
{
"id": "cd00054",
"url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00054",
"database": "CDD",
"categories": [
"Protein Classification"
]
},
{
"id": "cd00190",
"url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00190",
"database": "CDD",
"categories": [
"Protein Classification"
]
},
{
"id": "CHEMBL4611",
"url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4611",
"database": "ChEMBL",
"categories": [
"Other"
]
},
{
"id": "C1R",
"url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=C1R",
"database": "GeneCards",
"categories": [
"Gene Annotation",
"Organism-specific"
]
},
{
"id": "715",
"url": "https://www.ncbi.nlm.nih.gov/gene/715",
"database": "GeneID",
"categories": [
"Genome Annotation"
]
},
{
"id": "713",
"url": "https://glyconnect.expasy.org/browser/proteins/713",
"database": "GlyConnect",
"categories": [
"Glycoproteomics",
"Glycan"
]
},
{
"id": "1246",
"url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1246",
"database": "HGNC",
"categories": [
"Organism-specific"
]
},
{
"id": "P00736",
"url": "https://www.ebi.ac.uk/intact/interactors/id:P00736*",
"database": "IntAct",
"categories": [
"Other"
]
},
{
"id": "IPR000436",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR000436",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR000742",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR000742",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR000859",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR000859",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR001254",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR001254",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR001314",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR001314",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR001881",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR001881",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR009003",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR009003",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR018097",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR018097",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR024175",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR024175",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR033116",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR033116",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR035914",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR035914",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR035976",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR035976",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "IPR043504",
"url": "https://www.ebi.ac.uk/interpro/entry/IPR043504",
"database": "InterPro",
"categories": [
"Protein Classification"
]
},
{
"id": "hsa:715",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:715",
"database": "KEGG Pathway",
"categories": [
"Enzyme and Pathway"
]
},
{
"id": "130080",
"url": "http://www.omim.org/entry/130080",
"database": "MIM",
"categories": [
"Other"
]
},
{
"id": "216950",
"url": "http://www.omim.org/entry/216950",
"database": "MIM",
"categories": [
"Other"
]
},
{
"id": "613785",
"url": "http://www.omim.org/entry/613785",
"database": "MIM",
"categories": [
"Other"
]
},
{
"id": "NX_P00736",
"url": "https://www.nextprot.org/entry/NX_P00736",
"database": "neXtProt",
"categories": [
"Protein",
"Organism-specific"
]
},
{
"id": "RIPACLP",
"url": "https://omabrowser.org/oma/group/RIPACLP/",
"database": "OMA",
"categories": [
"Protein Classification"
]
},
{
"id": "5394076at2759",
"url": "http://www.orthodb.org/?query=5394076at2759",
"database": "OrthoDB",
"categories": [
"Protein Classification"
]
},
{
"id": "PTHR24255",
"url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24255",
"database": "PANTHER",
"categories": [
"Protein Classification"
]
},
{
"id": "PTHR24255:SF25",
"url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24255:SF25",
"database": "PANTHER",
"categories": [
"Protein Classification"
]
},
{
"id": "1APQ",
"url": "https://www.rcsb.org/structure/1APQ",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "1GPZ",
"url": "https://www.rcsb.org/structure/1GPZ",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "1MD7",
"url": "https://www.rcsb.org/structure/1MD7",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "1MD8",
"url": "https://www.rcsb.org/structure/1MD8",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "2QY0",
"url": "https://www.rcsb.org/structure/2QY0",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "6F1C",
"url": "https://www.rcsb.org/structure/6F1C",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "6F1D",
"url": "https://www.rcsb.org/structure/6F1D",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "6F1H",
"url": "https://www.rcsb.org/structure/6F1H",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "6F39",
"url": "https://www.rcsb.org/structure/6F39",
"database": "PDB",
"categories": [
"3D Structure"
]
},
{
"id": "PF00084",
"url": "http://pfam.xfam.org/family/PF00084",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF00089",
"url": "http://pfam.xfam.org/family/PF00089",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF00431",
"url": "http://pfam.xfam.org/family/PF00431",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "PF14670",
"url": "http://pfam.xfam.org/family/PF14670",
"database": "Pfam",
"categories": [
"Protein Classification"
]
},
{
"id": "P00736",
"url": "https://pharos.nih.gov/targets/P00736",
"database": "PHAROS",
"categories": [
"Organism-specific"
]
},
{
"id": "PR:000051071",
"url": "https://proconsortium.org/app/entry/PR:000051071",
"database": "PRO",
"categories": [
"Glycoproteomics"
]
},
{
"id": "PR:000051072",
"url": "https://proconsortium.org/app/entry/PR:000051072",
"database": "PRO",
"categories": [
"Glycoproteomics"
]
},
{
"id": "PR:000051073",
"url": "https://proconsortium.org/app/entry/PR:000051073",
"database": "PRO",
"categories": [
"Glycoproteomics"
]
},
{
"id": "PR_P00736",
"url": "http://purl.obolibrary.org/obo/PR_P00736",
"database": "PRO",
"categories": [
"Protein"
]
},
{
"id": "R-HSA-166663",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-173623",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-173623",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606",
"database": "Reactome",
"categories": [
"Protein Classification"
]
},
{
"id": "NP_001724",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724",
"database": "RefSeq",
"categories": [
"Protein"
]
},
{
"id": "P00736",
"url": "DISABLED",
"database": "UniCarbKB",
"categories": [
"Glycoproteomics"
]
},
{
"id": "A0A3B3ISR2",
"url": "https://www.uniprot.org/uniprot/A0A3B3ISR2",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A3B3ISR2-1",
"url": "https://www.uniprot.org/uniprot/A0A3B3ISR2-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A3B3ITU4",
"url": "https://www.uniprot.org/uniprot/A0A3B3ITU4",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "A0A3B3ITU4-1",
"url": "https://www.uniprot.org/uniprot/A0A3B3ITU4-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "B4DPQ0",
"url": "https://www.uniprot.org/uniprot/B4DPQ0",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "B4DPQ0-1",
"url": "https://www.uniprot.org/uniprot/B4DPQ0-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F5GWL0",
"url": "https://www.uniprot.org/uniprot/F5GWL0",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F5GWL0-1",
"url": "https://www.uniprot.org/uniprot/F5GWL0-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F5H1N6",
"url": "https://www.uniprot.org/uniprot/F5H1N6",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F5H1N6-1",
"url": "https://www.uniprot.org/uniprot/F5H1N6-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F5H1V0",
"url": "https://www.uniprot.org/uniprot/F5H1V0",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F5H1V0-1",
"url": "https://www.uniprot.org/uniprot/F5H1V0-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F5H2D0",
"url": "https://www.uniprot.org/uniprot/F5H2D0",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F5H2D0-1",
"url": "https://www.uniprot.org/uniprot/F5H2D0-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F5H3A3",
"url": "https://www.uniprot.org/uniprot/F5H3A3",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F5H3A3-1",
"url": "https://www.uniprot.org/uniprot/F5H3A3-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F5H3N3",
"url": "https://www.uniprot.org/uniprot/F5H3N3",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F5H3N3-1",
"url": "https://www.uniprot.org/uniprot/F5H3N3-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F5H6Y3",
"url": "https://www.uniprot.org/uniprot/F5H6Y3",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "F5H6Y3-1",
"url": "https://www.uniprot.org/uniprot/F5H6Y3-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736",
"database": "UniProtKB",
"categories": [
"Protein"
]
},
{
"id": "P00736-1",
"url": "https://www.uniprot.org/uniprot/P00736-1",
"database": "UniProtKB",
"categories": [
"Protein"
]
}
],
"sequence": {
"sequence": "MWLLYLLVPALFCRAGGSIPIPQKLFGEVTSPLFPKPYPNNFETTTVITVPTGYRVKLVFQQFDLEPSEGCFYDYVKISADKKSLGRFCGQLGSPLGNPPGKKEFMSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDLDECASRSKSGEEDPQPQCQHLCHNYVGGYFCSCRPGYELQEDTHSCQAECSSELYTEASGYISSLEYPRSYPPDLRCNYSIRVERGLTLHLKFLEPFDIDDHQQVHCPYDQLQIYANGKNIGEFCGKQRPPDLDTSSNAVDLLFFTDESGDSRGWKLRYTTEIIKCPQPKTLDEFTIIQNLQPQYQFRDYFIATCKQGYQLIEGNQVLHSFTAVCQDDGTWHRAMPRCKIKDCGQPRNLPNGDFRYTTTMGVNTYKARIQYYCHEPYYKMQTRAGSRESEQGVYTCTAQGIWKNEQKGEKIPRCLPVCGKPVNPVEQRQRIIGGQKAKMGNFPWQVFTNIHGRGGGALLGDRWILTAAHTLYPKEHEAQSNASLDVFLGHTNVEELMKLGNHPIRRVSVHPDYRQDESYNFEGDIALLELENSVTLGPNLLPICLPDNDTFYDLGLMGYVSGFGVMEEKIAHDLRFVRLPVANPQACENWLRGKNRMDVFSQNMFCAGHPSLKQDACQGDSGGVFAVRDPNTDRWVATGIVSWGIGCSRGYGFYTKVLNYVDWIKKEMEEED",
"length": 705,
"header": "sp|P00736-1|C1R_HUMAN Isoform 1 of Complement C1r subcomponent OS=Homo sapiens OX=9606 GN=C1R PE=1 SV=2 CANONICAL=P00736-1"
},
"isoforms": [
{
"isoform_ac": "A0A3B3ISR2-1",
"url": "",
"sequence": {
"sequence": "MWLLYLLVPALFCRAGGSIPIPQKLFGEVTSPLFPKPYPNNFETTTVITVPTGYRVKLVFQQFDLEPSEGCFYDYVKISADKKSLGRFCGQLGSPLGNPPGKKEFMSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDLDECASRSKSGEEDPQPQCQHLCHNYVGGYFCSCRPGYELQEDRHSCQAECSSELYTEASGYISSLEYPRSYPPDLRCNYSIRVERGLTLHLKFLEPFDIDDHQQVHCPYDQLQIYANGKNIGEFCGKQRPPDLDTSSNAVDLLFFTDESGDSRGWKLRYTTEIIKCPQPKTLDEFTIIQNLQPQYQFRDYFIATCKQGYQLIEGNQVLHSFTAVCQDDGTWHRAMPRCKIKDCGQPRNLPNGDFRYTTTMGVNTYKARIQYYCHEPYYKMQTRAGSRESEQGVYTCTAQGIWKNEQKGEKIPRCLPVCGKPVNPVEQRQRIIGGQKAKMGNFPWQVFTNIHGRGGGALLGDRWILTAAHTLYPKEHEAQSNASLDVFLGHTNVEELMKLGNHPIRRVSVHPDYRQDESYNFEGDIALLELENSVTLGPNLLPICLPDNDTFYDLGLMGYVSGFGVMEEKIAHDLRFVRLPVANPQACENWLRGKNRMDVFSQNMFCAGHPSLKQDACQGDSGGVFAVRDPNTDRWVATGIVSWGIGCSRGYGFYTKVLNYVDWIKKEMEEED",
"length": 705,
"header": "tr|A0A3B3ISR2-1|C1R_HUMAN Computationally mapped isoform of Complement C1r subcomponent OS=Homo sapiens OX=9606 GN=C1R PE=1 SV=1 CANONICAL=P00736-1"
},
"locus": {
"chromosome": "12",
"start_pos": 7092388,
"end_pos": 7080535,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000647956.2",
"url": "https://www.ensembl.org/id/ENST00000647956.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000497341.1",
"url": "https://www.ensembl.org/id/ENSP00000497341.1"
}
]
}
},
{
"isoform_ac": "A0A3B3ITU4-1",
"url": "",
"sequence": {
"sequence": "TTEIIKCPQPKTLDEFTIIQNLQPQYQFRDYFIATCKQGYQLIEGNQVLHSFTAVCQDDGTWHRAMPRCKRVYTCTAQGIWKNEQKGEKIPRCLPVCGKPVNPVEQRQRIIGGQKAKMGNFPWQVFTNIHGRGGGALLGDRWILTAAHTLYPKEHEAQSNASLDVFLGHTNVEELMKLGNHPIRRVSVHPDYRQDESYNFEGDIALLELENSVTLGPNLLPICLPDNDTFYDLGLMGYVSGFGVMEEKIAHDLRFVRLPVANPQACENWLRGKNRMDVFSQNMFCAGHPSLKQDACQGDSGGVFAVRDPNTDRWVATGIVSWGIGCSRGYGFYTKVLNYVDWIKKEMEEED",
"length": 351,
"header": "tr|A0A3B3ITU4-1|A0A3B3ITU4_HUMAN Computationally mapped isoform of Complement C1r OS=Homo sapiens OX=9606 GN=C1R PE=1 SV=1 CANONICAL=P00736-1"
},
"locus": {
"chromosome": "12",
"start_pos": 7088848,
"end_pos": 7080535,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000649804.1",
"url": "https://www.ensembl.org/id/ENST00000649804.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000497938.1",
"url": "https://www.ensembl.org/id/ENSP00000497938.1"
}
]
}
},
{
"isoform_ac": "B4DPQ0-1",
"url": "",
"sequence": {
"sequence": "MSVRFRVGREENAQWWLLYLLVPALFCRAGGSIPIPQKLFGEVTSPLFPKPYPNNFETTTVITVPTGYRVKLVFQQFDLEPSEGCFYDYVKISADKKSLGRFCGQLGSPLGNPPGKKEFMSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDLDECASRSKSGEEDPQPQCQHLCHNYVGGYFCSCRPGYELQEDRHSCQAECSSELYTEASGYISSLEYPRSYPPDLRCNYSIRVERGLTLHLKFLEPFDIDDHQQVHCPYDQLQIYANGKNIGEFCGKQRPPDLDTSSNAVDLLFFTDESGDSRGWKLRYTTEIIKCPQPKTLDEFTIIQNLQPQYQFRDYFIATCKQGYQLIEGNQVLHSFTAVCQDDGTWHRAMPRCKIKDCGQPRNLPNGDFRYTTTMGVNTYKARIQYYCHEPYYKMQTRAGSRESEQGVYTCTAQGIWKNEQKGEKIPRCLPVCGKPVNPVEQRQRIIGGQKAKMGNFPWQVFTNIHGRGGGALLGDRWILTAAHTLYPKEHEAQSNASLDVFLGHTNVEELMKLGNHPIRRVSVHPDYRQDESYNFEGDIALLELENSVTLGPNLLPICLPDNDTFYDLGLMGYVSGFGVMEEKIAHDLRFVRLPVANPQACENWLRGKNRMDVFSQNMFCAGHPSLKQDACQGDSGGVFAVRDPNTDRWVATGIVSWGIGCSRGYGFYTKVLNYVDWIKKEMEEED",
"length": 719,
"header": "tr|B4DPQ0-1|B4DPQ0_HUMAN Computationally mapped isoform of complement subcomponent C1r OS=Homo sapiens OX=9606 GN=C1R PE=1 SV=1 CANONICAL=P00736-1"
},
"locus": {
"chromosome": "12",
"start_pos": 7091816,
"end_pos": 7080535,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000536053.6",
"url": "https://www.ensembl.org/id/ENST00000536053.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000444271.3",
"url": "https://www.ensembl.org/id/ENSP00000444271.3"
}
]
}
},
{
"isoform_ac": "F5GWL0-1",
"url": "",
"sequence": {
"sequence": "MSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDLDECASRSKSGEEDPQPQCQHLCHNYVGGYFCSC",
"length": 71,
"header": "tr|F5GWL0-1|C1R_HUMAN Computationally mapped isoform of Complement C1r subcomponent OS=Homo sapiens OX=9606 GN=C1R PE=1 SV=8 CANONICAL=P00736-1"
},
"locus": {
"chromosome": "12",
"start_pos": 7090164,
"end_pos": 7089630,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000541042.5",
"url": "https://www.ensembl.org/id/ENST00000541042.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000441601.1",
"url": "https://www.ensembl.org/id/ENSP00000441601.1"
}
]
}
},
{
"isoform_ac": "F5H1N6-1",
"url": "",
"sequence": {
"sequence": "MSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDLDECASRSKSGE",
"length": 49,
"header": "tr|F5H1N6-1|C1R_HUMAN Computationally mapped isoform of Complement C1r subcomponent OS=Homo sapiens OX=9606 GN=C1R PE=1 SV=1 CANONICAL=P00736-1"
},
"locus": {
"chromosome": "12",
"start_pos": 7090164,
"end_pos": 7089696,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000538050.5",
"url": "https://www.ensembl.org/id/ENST00000538050.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000444009.1",
"url": "https://www.ensembl.org/id/ENSP00000444009.1"
}
]
}
},
{
"isoform_ac": "F5H1V0-1",
"url": "",
"sequence": {
"sequence": "MWLLYLLVPALFCRAGGSIPIPQKLFGEVTSPLFPKPYPNNFETTTVITVPTGYRVKLVFQQFDLEPSEGCFYDYVKISADKKSLGRFCGQLGSPLGNPPGKKEFMSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVGLW",
"length": 144,
"header": "tr|F5H1V0-1|C1R_HUMAN Computationally mapped isoform of Complement C1r subcomponent OS=Homo sapiens OX=9606 GN=C1R PE=1 SV=1 CANONICAL=P00736-1"
},
"locus": {
"chromosome": "12",
"start_pos": 7092388,
"end_pos": 7089813,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000543362.5",
"url": "https://www.ensembl.org/id/ENST00000543362.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000446356.1",
"url": "https://www.ensembl.org/id/ENSP00000446356.1"
}
]
}
},
{
"isoform_ac": "F5H2D0-1",
"url": "",
"sequence": {
"sequence": "MWLLYLLVPALFCRAGGSIPIPQKLFGEVTSPLFPKPYPNNFETTTVITVPTGYRVKLVFQQFDLEPSEGCFYDYVKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDLDECASRSKSGEEDPQPQCQHLCHNYVGGYFCSCRPGYELQEDRHSCQAECSSELYTEASGYISSLEYPRSYPPDLRCNYSIRVERGLTLHLKFLEPFDIDDHQQVHCPYDQLQIYANGKNIGEFCGKQRPPDLDTSSNAVDLLFFTDESGDSRGWKLRYTTEIIKCPQPKTLDEFTIIQNLQPQYQFRDYFIATCKQGYQLIEGNQVLHSFTAVCQDDGTWHRAMPRCKIKDCGQPRNLPNGDFRYTTTMGVNTYKARIQYYCHEPYYKMQTRAGSRESEQGVYTCTAQGIWKNEQKGEKIPRCLPVCGKPVNPVEQRQRIIGGQKAKMGNFPWQVFTNIHGRGGGALLGDRWILTAAHTLYPKEHEAQSNASLDVFLGHTNVEELMKLGNHPIRRVSVHPDYRQDESYNFEGDIALLELENSVTLGPNLLPICLPDNDTFYDLGLMGYVSGFGVMEEKIAHDLRFVRLPVANPQACENWLRGKNRMDVFSQNMFCAGHPSLKQDACQGDSGGVFAVRDPNTDRWVATGIVSWGIGCSRGYGFYTKVLNYVDWIKKEMEEED",
"length": 671,
"header": "tr|F5H2D0-1|F5H2D0_HUMAN Computationally mapped isoform of complement subcomponent C1r OS=Homo sapiens OX=9606 GN=C1R PE=1 SV=3 CANONICAL=P00736-1"
},
"locus": {
"chromosome": "12",
"start_pos": 7092388,
"end_pos": 7080535,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000535233.6",
"url": "https://www.ensembl.org/id/ENST00000535233.6"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000438636.3",
"url": "https://www.ensembl.org/id/ENSP00000438636.3"
}
]
}
},
{
"isoform_ac": "F5H3A3-1",
"url": "",
"sequence": {
"sequence": "MSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDLDECASRSKSGEEDPQPQCQHLCHNYVGGYFCSCRPGYELQEDRHSCQAECSSELY",
"length": 93,
"header": "tr|F5H3A3-1|F5H3A3_HUMAN Computationally mapped isoform of Complement C1r OS=Homo sapiens OX=9606 GN=C1R PE=1 SV=8 CANONICAL=P00736-1"
},
"locus": {
"chromosome": "12",
"start_pos": 7090164,
"end_pos": 7089467,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000540610.5",
"url": "https://www.ensembl.org/id/ENST00000540610.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000439223.1",
"url": "https://www.ensembl.org/id/ENSP00000439223.1"
}
]
}
},
{
"isoform_ac": "F5H3N3-1",
"url": "",
"sequence": {
"sequence": "MWLLYLLVPALFCRAGGSIPIPQKLFGEVTSPLFPKPYPNNFETTTVITVPTGYRVKLVFQQFDLEPSEGCFYDYVKKEFMSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDLDECASRSKSGEEDPQPQCQHLCHNYVGGYFCSCRPGYE",
"length": 156,
"header": "tr|F5H3N3-1|F5H3N3_HUMAN Computationally mapped isoform of Complement C1r OS=Homo sapiens OX=9606 GN=C1R PE=1 SV=1 CANONICAL=P00736-1"
},
"locus": {
"chromosome": "12",
"start_pos": 7092388,
"end_pos": 7089615,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000543835.5",
"url": "https://www.ensembl.org/id/ENST00000543835.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000445285.1",
"url": "https://www.ensembl.org/id/ENSP00000445285.1"
}
]
}
},
{
"isoform_ac": "F5H6Y3-1",
"url": "",
"sequence": {
"sequence": "MWLLYLLVPALFCRAGGSIPIPQKLFGEVTSPLFPKPYPNNFETTTVITVPTGYRVKLVFQQFDLEPSEGCFYDYVKISADKKSLGRFCGQLGSPLGNPPGKKEFMSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVGEEDPQPQCQHLCHN",
"length": 156,
"header": "tr|F5H6Y3-1|C1R_HUMAN Computationally mapped isoform of Complement C1r subcomponent OS=Homo sapiens OX=9606 GN=C1R PE=1 SV=1 CANONICAL=P00736-1"
},
"locus": {
"chromosome": "12",
"start_pos": 7092388,
"end_pos": 7089657,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000540242.2",
"url": "https://www.ensembl.org/id/ENST00000540242.2"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000442946.1",
"url": "https://www.ensembl.org/id/ENSP00000442946.1"
}
]
}
},
{
"isoform_ac": "P00736-1",
"url": "",
"sequence": {
"sequence": "MWLLYLLVPALFCRAGGSIPIPQKLFGEVTSPLFPKPYPNNFETTTVITVPTGYRVKLVFQQFDLEPSEGCFYDYVKISADKKSLGRFCGQLGSPLGNPPGKKEFMSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDLDECASRSKSGEEDPQPQCQHLCHNYVGGYFCSCRPGYELQEDTHSCQAECSSELYTEASGYISSLEYPRSYPPDLRCNYSIRVERGLTLHLKFLEPFDIDDHQQVHCPYDQLQIYANGKNIGEFCGKQRPPDLDTSSNAVDLLFFTDESGDSRGWKLRYTTEIIKCPQPKTLDEFTIIQNLQPQYQFRDYFIATCKQGYQLIEGNQVLHSFTAVCQDDGTWHRAMPRCKIKDCGQPRNLPNGDFRYTTTMGVNTYKARIQYYCHEPYYKMQTRAGSRESEQGVYTCTAQGIWKNEQKGEKIPRCLPVCGKPVNPVEQRQRIIGGQKAKMGNFPWQVFTNIHGRGGGALLGDRWILTAAHTLYPKEHEAQSNASLDVFLGHTNVEELMKLGNHPIRRVSVHPDYRQDESYNFEGDIALLELENSVTLGPNLLPICLPDNDTFYDLGLMGYVSGFGVMEEKIAHDLRFVRLPVANPQACENWLRGKNRMDVFSQNMFCAGHPSLKQDACQGDSGGVFAVRDPNTDRWVATGIVSWGIGCSRGYGFYTKVLNYVDWIKKEMEEED",
"length": 705,
"header": "sp|P00736-1|C1R_HUMAN Isoform 1 of Complement C1r subcomponent OS=Homo sapiens OX=9606 GN=C1R PE=1 SV=2 CANONICAL=P00736-1"
},
"locus": {}
}
],
"glycosylation": [
{
"glytoucan_ac": "G02030ZB",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 125,
"start_aa": "Asn",
"end_pos": 125,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn125",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29391424",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"glytoucan_ac": "G11629QQ",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 125,
"start_aa": "Asn",
"end_pos": 125,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn125",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29391424",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"glytoucan_ac": "G15169WU",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 125,
"start_aa": "Asn",
"end_pos": 125,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn125",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29391424",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"glytoucan_ac": "G22310AV",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 125,
"start_aa": "Asn",
"end_pos": 125,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn125",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29391424",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"glytoucan_ac": "G39595FH",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 125,
"start_aa": "Asn",
"end_pos": 125,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn125",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29391424",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"glytoucan_ac": "G48414YA",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 125,
"start_aa": "Asn",
"end_pos": 125,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn125",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29391424",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"glytoucan_ac": "G59536GA",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 125,
"start_aa": "Asn",
"end_pos": 125,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn125",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29391424",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"glytoucan_ac": "G64394MX",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 125,
"start_aa": "Asn",
"end_pos": 125,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn125",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29391424",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"glytoucan_ac": "G81263BG",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 125,
"start_aa": "Asn",
"end_pos": 125,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn125",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29391424",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"glytoucan_ac": "G84452RH",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 125,
"start_aa": "Asn",
"end_pos": 125,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn125",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29391424",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "reported",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 125,
"start_aa": "Asn",
"end_pos": 125,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn125",
"evidence": [
{
"id": "P00736",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00736#ptm_processing"
},
{
"id": "16335952",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/16335952"
},
{
"id": "6F1C",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/6F1C"
},
{
"id": "6F1H",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/6F1H"
}
]
},
{
"glytoucan_ac": "G00912UN",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 221,
"start_aa": "Asn",
"end_pos": 221,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn221",
"evidence": [
{
"id": "P00736",
"database": "UniCarbKB",
"url": ""
},
{
"id": "29671580",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29671580"
}
]
},
{
"glytoucan_ac": "G34617SM",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 221,
"start_aa": "Asn",
"end_pos": 221,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn221",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29391424",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"glytoucan_ac": "G41882MT",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 221,
"start_aa": "Asn",
"end_pos": 221,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn221",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29391424",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"glytoucan_ac": "G47748JZ",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 221,
"start_aa": "Asn",
"end_pos": 221,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn221",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29391424",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"glytoucan_ac": "G48414YA",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 221,
"start_aa": "Asn",
"end_pos": 221,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn221",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29671580",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29671580"
}
]
},
{
"glytoucan_ac": "G64394MX",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 221,
"start_aa": "Asn",
"end_pos": 221,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn221",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29391424",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"glytoucan_ac": "G78790NZ",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 221,
"start_aa": "Asn",
"end_pos": 221,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn221",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29741879",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29741879"
}
]
},
{
"glytoucan_ac": "G93656SY",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 221,
"start_aa": "Asn",
"end_pos": 221,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn221",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "29391424",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "reported",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 221,
"start_aa": "Asn",
"end_pos": 221,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn221",
"evidence": [
{
"id": "P00736",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00736#ptm_processing"
},
{
"id": "16335952",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/16335952"
},
{
"id": "6F1C",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/6F1C"
},
{
"id": "6F1H",
"database": "RCSB PDB",
"url": "https://www.rcsb.org/sequence/6F1H"
},
{
"id": "24190977",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/24190977"
},
{
"id": "GLY_000143",
"database": "GlyGen",
"url": "https://data.glygen.org/GLY_000143"
}
]
},
{
"glytoucan_ac": "G00912UN",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 514,
"start_aa": "Asn",
"end_pos": 514,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn514",
"evidence": [
{
"id": "P00736",
"database": "UniCarbKB",
"url": ""
},
{
"id": "29671580",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29671580"
},
{
"id": "P00736@N514",
"database": "GPTwiki",
"url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P00736@N514"
}
]
},
{
"glytoucan_ac": "G42358LZ",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 514,
"start_aa": "Asn",
"end_pos": 514,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn514",
"evidence": [
{
"id": "P00736",
"database": "UniCarbKB",
"url": ""
},
{
"id": "24279413",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/24279413"
},
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
}
]
},
{
"glytoucan_ac": "G48414YA",
"type": "N-linked",
"subtype": "",
"site_category": "reported_with_glycan",
"site_seq": "N",
"relation": "attached",
"comment": "",
"start_pos": 514,
"start_aa": "Asn",
"end_pos": 514,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn514",
"evidence": [
{
"id": "713",
"database": "GlyConnect",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
},
{
"id": "24279413",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/24279413"
},
{
"id": "29741879",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29741879"
},
{
"id": "29671580",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/29671580"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "reported",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 514,
"start_aa": "Asn",
"end_pos": 514,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn514",
"evidence": [
{
"id": "P00736",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00736#ptm_processing"
},
{
"id": "19159218",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/19159218"
},
{
"id": "16335952",
"database": "PubMed",
"url": "https://glygen.org/publication/PubMed/16335952"
}
]
},
{
"glytoucan_ac": "",
"type": "N-linked",
"subtype": "",
"site_category": "predicted",
"site_seq": "N",
"relation": "attached",
"comment": "N-linked (GlcNAc...) asparagine",
"start_pos": 581,
"start_aa": "Asn",
"end_pos": 581,
"end_aa": "Asn",
"residue": "Asn",
"site_lbl": "Asn581",
"evidence": [
{
"id": "P00736",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00736#ptm_processing"
}
]
}
],
"phosphorylation": [
{
"start_pos": 206,
"end_pos": 206,
"kinase_uniprot_canonical_ac": "P68400-1",
"kinase_gene_name": "CSNK2A1",
"residue": "Ser",
"comment": "",
"evidence": [
{
"database": "iPTMnet",
"id": "P00736",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00736"
},
{
"database": "PubMed",
"id": "8635594",
"url": "https://glygen.org/publication/PubMed/8635594"
}
],
"site_lbl": "Ser206"
},
{
"start_pos": 206,
"end_pos": 206,
"kinase_uniprot_canonical_ac": "",
"kinase_gene_name": "",
"residue": "Ser",
"comment": "Phosphoserine; by CK2",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
},
{
"database": "UniProtKB",
"id": "A0A3B3ISR2",
"url": "https://www.uniprot.org/uniprot/A0A3B3ISR2"
},
{
"database": "phospho.ELM",
"id": "P00736",
"url": "http://phospho.elm.eu.org/byAccession/P00736.html"
},
{
"database": "iPTMnet",
"id": "P00736",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00736"
},
{
"database": "PubMed",
"id": "8635594",
"url": "https://glygen.org/publication/PubMed/8635594"
}
],
"site_lbl": "Ser206"
}
],
"glycation": [],
"keywords": [
"enzyme",
"glycoprotein",
"glycoprotein_reported_with_glycan",
"glycoprotein_reported",
"glycoprotein_predicted"
],
"publication": [
{
"title": "Decay accelerating activity of complement receptor type 1 (CD35). Two active sites are required for dissociating C5 convertases.",
"journal": "The Journal of biological chemistry",
"date": "1999",
"authors": "Krych-Goldberg M, Hauhart RE, Subramanian VB, Yurcisin BM 2nd, Crimmins DL, Hourcade DE, Atkinson JP",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "10531307",
"url": "https://glygen.org/publication/PubMed/10531307"
}
]
},
{
"title": "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": "The crystal structure of the zymogen catalytic domain of complement protease C1r reveals that a disruptive mechanical stress is required to trigger activation of the C1 complex.",
"journal": "EMBO J.",
"date": "2002",
"authors": "Budayova-Spano M, Lacroix M, Thielens NM, Arlaud GJ, Fontecilla-Camps JC, Gaboriaud C",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"reference": [
{
"type": "PubMed",
"id": "11823416",
"url": "https://glygen.org/publication/PubMed/11823416"
}
]
},
{
"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": "Monomeric structures of the zymogen and active catalytic domain of complement protease c1r: further insights into the c1 activation mechanism.",
"journal": "Structure",
"date": "2002",
"authors": "Budayova-Spano Monika, Grabarse Wolfgang, Thielens Nicole M, Hillen Heinz, Lacroix Monique, Schmidt Martin, Fontecilla-Camps Juan Carlos, Arlaud G\u00e9rard J, Gaboriaud Christine",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"reference": [
{
"type": "PubMed",
"id": "12429092",
"url": "https://glygen.org/publication/PubMed/12429092"
}
]
},
{
"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": "The human complement component C1R gene: the exon-intron structure and the molecular basis of allelic diversity.",
"journal": "Annals of human genetics",
"date": "2003",
"authors": "Nakagawa M, Yuasa I, Irizawa Y, Umetsu K",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"reference": [
{
"type": "PubMed",
"id": "12914573",
"url": "https://glygen.org/publication/PubMed/12914573"
}
]
},
{
"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": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736#ptm_processing"
},
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"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": "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": "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": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736#ptm_processing"
},
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"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": "Quantitative detection of single amino acid polymorphisms by targeted proteomics.",
"journal": "Journal of molecular cell biology",
"date": "2011",
"authors": "Su ZD, Sun L, Yu DX, Li RX, Li HX, Yu ZJ, Sheng QH, Lin X, Zeng R, Wu JR",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"reference": [
{
"type": "PubMed",
"id": "22028381",
"url": "https://glygen.org/publication/PubMed/22028381"
}
]
},
{
"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": "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": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.",
"journal": "Molecular & cellular proteomics : MCP",
"date": "2014",
"authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M",
"evidence": [
{
"database": "GlyGen",
"id": "GLY_000143",
"url": "https://data.glygen.org/GLY_000143"
}
],
"reference": [
{
"type": "PubMed",
"id": "24190977",
"url": "https://glygen.org/publication/PubMed/24190977"
}
]
},
{
"title": "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": "Computational framework for identification of intact glycopeptides in complex samples.",
"journal": "Analytical chemistry",
"date": "2014",
"authors": "Mayampurath A, Yu CY, Song E, Balan J, Mechref Y, Tang H",
"evidence": [
{
"database": "UniCarbKB",
"id": "P00736",
"url": ""
},
{
"database": "GlyConnect",
"id": "713",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
}
],
"reference": [
{
"type": "PubMed",
"id": "24279413",
"url": "https://glygen.org/publication/PubMed/24279413"
}
]
},
{
"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": "Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.",
"journal": "American journal of human genetics",
"date": "2016",
"authors": "Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Bjorck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM, Byers PH, Zschocke J",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"reference": [
{
"type": "PubMed",
"id": "27745832",
"url": "https://glygen.org/publication/PubMed/27745832"
}
]
},
{
"title": "Identification of erythro-beta-hydroxyasparagine in the EGF-like domain of human C1r.",
"journal": "FEBS letters",
"date": "1987",
"authors": "Arlaud GJ, Van Dorsselaer A, Bell A, Mancini M, Aude C, Gagnon J",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"reference": [
{
"type": "PubMed",
"id": "2820791",
"url": "https://glygen.org/publication/PubMed/2820791"
}
]
},
{
"title": "Complete cDNA sequence of human complement Cls and close physical linkage of the homologous genes Cls and Clr.",
"journal": "Biochemistry",
"date": "1987",
"authors": "Tosi M, Duponchel C, Meo T, Julier C",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"reference": [
{
"type": "PubMed",
"id": "2831944",
"url": "https://glygen.org/publication/PubMed/2831944"
}
]
},
{
"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": "Large-scale intact glycopeptide identification by Mascot database search.",
"journal": "Scientific reports",
"date": "2018",
"authors": "Bollineni RC, Koehler CJ, Gislefoss RE, Anonsen JH, Thiede B",
"evidence": [
{
"database": "GlyConnect",
"id": "713",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
}
],
"reference": [
{
"type": "PubMed",
"id": "29391424",
"url": "https://glygen.org/publication/PubMed/29391424"
}
]
},
{
"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": "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": "P00736",
"url": ""
},
{
"database": "GlyConnect",
"id": "713",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
}
],
"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": "713",
"url": "https://glyconnect.expasy.org/browser/proteins/713"
}
],
"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": "Nucleotide sequence of the cDNA coding for human complement C1r.",
"journal": "Biochemistry",
"date": "1986",
"authors": "Leytus S P, Kurachi K, Sakariassen K S, Davie E W",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"reference": [
{
"type": "PubMed",
"id": "3021205",
"url": "https://glygen.org/publication/PubMed/3021205"
}
]
},
{
"title": "Cloning and sequencing of full-length cDNA encoding the precursor of human complement component C1r.",
"journal": "Biochem. J.",
"date": "1986",
"authors": "Journet A, Tosi M",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"reference": [
{
"type": "PubMed",
"id": "3030286",
"url": "https://glygen.org/publication/PubMed/3030286"
}
]
},
{
"title": "Complete amino acid sequence of the A chain of human complement-classical-pathway enzyme C1r.",
"journal": "Biochem. J.",
"date": "1987",
"authors": "Arlaud G J, Willis A C, Gagnon J",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"reference": [
{
"type": "PubMed",
"id": "3036070",
"url": "https://glygen.org/publication/PubMed/3036070"
}
]
},
{
"title": "C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome.",
"journal": "Frontiers in immunology",
"date": "2019",
"authors": "Grobner R, Kapferer-Seebacher I, Amberger A, Redolfi R, Dalonneau F, Bjorck E, Milnes D, Bally I, Rossi V, Thielens N, Stoiber H, Gaboriaud C, Zschocke J",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001724",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724"
}
],
"reference": [
{
"type": "PubMed",
"id": "31749804",
"url": "https://glygen.org/publication/PubMed/31749804"
}
]
},
{
"title": "C1q binding to surface-bound IgG is stabilized by C1r2s2 proteases.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "2021",
"authors": "Zwarthoff SA, Widmer K, Kuipers A, Strasser J, Ruyken M, Aerts PC, de Haas CJC, Ugurlar D, den Boer MA, Vidarsson G, van Strijp JAG, Gros P, Parren PWHI, van Kessel KPM, Preiner J, Beurskens FJ, Schuurman J, Ricklin D, Rooijakkers SHM",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001724",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724"
}
],
"reference": [
{
"type": "PubMed",
"id": "34155115",
"url": "https://glygen.org/publication/PubMed/34155115"
}
]
},
{
"title": "C1r Upregulates Production of Matrix Metalloproteinase-13 and Promotes Invasion of Cutaneous Squamous Cell Carcinoma.",
"journal": "The Journal of investigative dermatology",
"date": "2022",
"authors": "Viiklepp K, Nissinen L, Ojalill M, Riihila P, Kallajoki M, Meri S, Heino J, Kahari VM",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001724",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724"
}
],
"reference": [
{
"type": "PubMed",
"id": "34756877",
"url": "https://glygen.org/publication/PubMed/34756877"
}
]
},
{
"title": "A familial case of periodontal Ehlers-Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R.",
"journal": "The Journal of dermatology",
"date": "2022",
"authors": "Nakajima K, Suzuki H, Yamamoto M, Yamamoto T, Kawai T, Nakabayashi K, Hata K, Kosaki K, Nakajima H, Sano S, Kubo A",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001724",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724"
}
],
"reference": [
{
"type": "PubMed",
"id": "35365885",
"url": "https://glygen.org/publication/PubMed/35365885"
}
]
},
{
"title": "C1R, CCL2, and TNFRSF1A Genes in Coronavirus Disease-COVID-19 Pathway Serve as Novel Molecular Biomarkers of GBM Prognosis and Immune Infiltration.",
"journal": "Disease markers",
"date": "2022",
"authors": "Wang X, Yang G, Wang Q, Zhao Y, Ding K, Ji C, Shi Z, Li H, Li Y, Li S",
"evidence": [
{
"database": "RefSeq",
"id": "NP_001724",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724"
}
],
"reference": [
{
"type": "PubMed",
"id": "35726234",
"url": "https://glygen.org/publication/PubMed/35726234"
}
]
},
{
"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": "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": "https://glygen.org/publication/PubMed/6019133"
}
]
},
{
"title": "Generation of three different fragments of bound C3 with purified factor I or serum. I. Requirements for factor H vs CR1 cofactor activity.",
"journal": "Journal of immunology (Baltimore, Md. : 1950)",
"date": "1982",
"authors": "Ross GD, Lambris JD, Cain JA, Newman SL",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "6214588",
"url": "https://glygen.org/publication/PubMed/6214588"
}
]
},
{
"title": "Kinetic and thermodynamic analysis of the control of C3b by the complement regulatory proteins factors H and I.",
"journal": "Biochemistry",
"date": "1983",
"authors": "Pangburn MK, Muller-Eberhard HJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "6219696",
"url": "https://glygen.org/publication/PubMed/6219696"
}
]
},
{
"title": "Visualization of human C4b-binding protein and its complexes with vitamin K-dependent protein S and complement protein C4b.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "1983",
"authors": "Dahlback B, Smith CA, Muller-Eberhard HJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "6222381",
"url": "https://glygen.org/publication/PubMed/6222381"
}
]
},
{
"title": "Identification of a 145,000 Mr membrane protein as the C3d receptor (CR2) of human B lymphocytes.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "1984",
"authors": "Weis JJ, Tedder TF, Fearon DT",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "6230668",
"url": "https://glygen.org/publication/PubMed/6230668"
}
]
},
{
"title": "Inhibition of complement activation on the surface of cells after incorporation of decay-accelerating factor (DAF) into their membranes.",
"journal": "The Journal of experimental medicine",
"date": "1984",
"authors": "Medof ME, Kinoshita T, Nussenzweig V",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "6238120",
"url": "https://glygen.org/publication/PubMed/6238120"
}
]
},
{
"title": "Complete amino acid sequence of the catalytic chain of human complement subcomponent C1-r.",
"journal": "Biochemistry",
"date": "1983",
"authors": "Arlaud G J, Gagnon J",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"reference": [
{
"type": "PubMed",
"id": "6303394",
"url": "https://glygen.org/publication/PubMed/6303394"
}
]
},
{
"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": "Human C4-binding protein. II. Role in proteolysis of C4b by C3b-inactivator.",
"journal": "The Journal of experimental medicine",
"date": "1978",
"authors": "Fujita T, Gigli I, Nussenzweig V",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "702059",
"url": "https://glygen.org/publication/PubMed/702059"
}
]
},
{
"title": "Cleavage of C2 by C1s into the antigenically distinct fragments C2a and C2b: demonstration of binding of C2b to C4b.",
"journal": "Proceedings of the National Academy of Sciences of the United States of America",
"date": "1977",
"authors": "Nagasawa S, Stroud RM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-166663",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663"
}
],
"reference": [
{
"type": "PubMed",
"id": "70787",
"url": "https://glygen.org/publication/PubMed/70787"
}
]
},
{
"title": "Cleavage of C4b by C3b inactivator: production of a nicked form of C4b, C4b', as an intermediate cleavage product of C4b by C3b inactivator.",
"journal": "Journal of immunology (Baltimore, Md. : 1950)",
"date": "1980",
"authors": "Nagasawa S, Ichihara C, Stroud RM",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "7391570",
"url": "https://glygen.org/publication/PubMed/7391570"
}
]
},
{
"title": "Interaction between the labile binding sites of the fourth (C4) and fifth (C5) human complement proteins and erythrocyte cell membranes.",
"journal": "Journal of immunology (Baltimore, Md. : 1950)",
"date": "1980",
"authors": "Law SK, Lichtenberg NA, Holcombe FH, Levine RP",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-166663",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663"
}
],
"reference": [
{
"type": "PubMed",
"id": "7391573",
"url": "https://glygen.org/publication/PubMed/7391573"
}
]
},
{
"title": "Complement inhibition by human vitronectin involves non-heparin binding domains.",
"journal": "Clinical and experimental immunology",
"date": "1995",
"authors": "Sheehan M, Morris CA, Pussell BA, Charlesworth JA",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "7542572",
"url": "https://glygen.org/publication/PubMed/7542572"
}
]
},
{
"title": "Interaction of C1-inhibitor with the C1r and C1s subcomponents in human C1.",
"journal": "Biochimica et biophysica acta",
"date": "1979",
"authors": "Arlaud GJ, Reboul A, Sim RB, Colomb MG",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "760802",
"url": "https://glygen.org/publication/PubMed/760802"
}
]
},
{
"title": "Interaction of 125I-labelled complement subcomponents C-1r and C-1s with protease inhibitors in plasma.",
"journal": "FEBS letters",
"date": "1979",
"authors": "Sim RB, Reboul A, Arlaud GJ, Villiers CL, Colomb MG",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "761607",
"url": "https://glygen.org/publication/PubMed/761607"
}
]
},
{
"title": "Functional dissection of the CD21/CD19/TAPA-1/Leu-13 complex of B lymphocytes.",
"journal": "The Journal of experimental medicine",
"date": "1993",
"authors": "Matsumoto AK, Martin DR, Carter RH, Klickstein LB, Ahearn JM, Fearon DT",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "7690834",
"url": "https://glygen.org/publication/PubMed/7690834"
}
]
},
{
"title": "Interactions of soluble CD59 with the terminal complement complexes. CD59 and C9 compete for a nascent epitope on C8.",
"journal": "Journal of immunology (Baltimore, Md. : 1950)",
"date": "1993",
"authors": "Lehto T, Meri S",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "7691959",
"url": "https://glygen.org/publication/PubMed/7691959"
}
]
},
{
"title": "Physicochemical and functional characterization of the C1r subunit of the first complement component.",
"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": "814163",
"url": "https://glygen.org/publication/PubMed/814163"
}
]
},
{
"title": "A common amino acid polymorphism in complement component C1R.",
"journal": "Hum. Mol. Genet.",
"date": "1994",
"authors": "N\u00f6then M M, Dewald G",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"reference": [
{
"type": "PubMed",
"id": "8162045",
"url": "https://glygen.org/publication/PubMed/8162045"
}
]
},
{
"title": "Clusterin, the human apolipoprotein and complement inhibitor, binds to complement C7, C8 beta, and the b domain of C9.",
"journal": "Journal of immunology (Baltimore, Md. : 1950)",
"date": "1993",
"authors": "Tschopp J, Chonn A, Hertig S, French LE",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "8345200",
"url": "https://glygen.org/publication/PubMed/8345200"
}
]
},
{
"title": "Covalent binding properties of the human complement protein C4 and hydrolysis rate of the internal thioester upon activation.",
"journal": "Protein science : a publication of the Protein Society",
"date": "1993",
"authors": "Sepp A, Dodds AW, Anderson MJ, Campbell RD, Willis AC, Law SK",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "8495193",
"url": "https://glygen.org/publication/PubMed/8495193"
}
]
},
{
"title": "The reaction mechanism of the internal thioester in the human complement component C4.",
"journal": "Nature",
"date": "1996",
"authors": "Dodds AW, Ren XD, Willis AC, Law SK",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-166663",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663"
}
],
"reference": [
{
"type": "PubMed",
"id": "8538770",
"url": "https://glygen.org/publication/PubMed/8538770"
}
]
},
{
"title": "Identification of a cryptic protein kinase CK2 phosphorylation site in human complement protease Clr, and its use to probe intramolecular interaction.",
"journal": "FEBS letters",
"date": "1996",
"authors": "Pelloux S, Thielens NM, Hudry-Clergeon G, Petillot Y, Filhol O, Arlaud GJ",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
},
{
"database": "iPTMnet",
"id": "P00736",
"url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P00736"
}
],
"reference": [
{
"type": "PubMed",
"id": "8635594",
"url": "https://glygen.org/publication/PubMed/8635594"
}
]
},
{
"title": "Localization of classical and alternative pathway regulatory activity within the decay-accelerating factor.",
"journal": "Journal of immunology (Baltimore, Md. : 1950)",
"date": "1996",
"authors": "Brodbeck WG, Liu D, Sperry J, Mold C, Medof ME",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "8786315",
"url": "https://glygen.org/publication/PubMed/8786315"
}
]
},
{
"title": "Binding of human and rat CD59 to the terminal complement complexes.",
"journal": "Immunology",
"date": "1997",
"authors": "Lehto T, Morgan BP, Meri S",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "9038722",
"url": "https://glygen.org/publication/PubMed/9038722"
}
]
},
{
"title": "Solution structure of the epidermal growth factor (EGF)-like module of human complement protease C1r, an atypical member of the EGF family.",
"journal": "Biochemistry",
"date": "1998",
"authors": "Bersch B, Hernandez J F, Marion D, Arlaud G J",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"reference": [
{
"type": "PubMed",
"id": "9477945",
"url": "https://glygen.org/publication/PubMed/9477945"
}
]
},
{
"title": "Alternative pathway of complement: recruitment of precursor properdin by the labile C3/C5 convertase and the potentiation of the pathway.",
"journal": "The Journal of experimental medicine",
"date": "1976",
"authors": "Medicus RG, Gotze O, Muller-Eberhard HJ",
"evidence": [
{
"database": "Reactome",
"id": "R-HSA-977606",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606"
}
],
"reference": [
{
"type": "PubMed",
"id": "978134",
"url": "https://glygen.org/publication/PubMed/978134"
}
]
}
],
"pathway": [
{
"id": "hsa:715",
"name": "",
"url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:715",
"resource": "KEGG Pathway"
},
{
"id": "R-HSA-166663",
"name": "Initial triggering of complement",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166663",
"resource": "Reactome",
"description": "Initial triggering of complement"
},
{
"id": "R-HSA-173623",
"name": "Classical antibody-mediated complement activation",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-173623",
"resource": "Reactome",
"description": "Classical antibody-mediated complement activation"
},
{
"id": "R-HSA-977606",
"name": "Regulation of Complement cascade",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606",
"resource": "Reactome",
"description": "Regulation of Complement cascade"
}
],
"orthologs": [
{
"uniprot_canonical_ac": "B5DEH7-1",
"protein_name": "complement subcomponent C1r",
"gene_name": "C1r",
"tax_id": 10116,
"organism": "Rattus norvegicus",
"sequence": {
"sequence": "MRLIPLLLVTLFCGVEGSIYLPQKLYGEVTSPLYPKPYPSDLETTTVITVPTGYRVKLVFWQFDVEPSEGCFYDYVKISADKKTLGRFCGQQDSPQGNPPGRKEFMSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDLDECTSQPNSVEEGLQPRCQHLCHNYVGGYFCSCRPGYELQKDRQSCQAECSSGLYTEPSGYISSLEYPKPYPPDLRCNYSIRVERGLTVHLKFLDPFEIDDHQQVHCPYDQLQIYANGKNLGEFCGTQRPPDLDTSSNAVDLLFFTDESGDSRGWKLRYTTEIIKCPQPKALDEFTIIQDPQPQYQFRDYFIVTCKQGYQLMEGSQALLSFTAVCQHDGTWHRAMPRCKIKDCGQPRSLSNGDFRYLTTRGVNTYEARIQYYCHDPYYKMMTRAGSSESVRGIYTCTPQGIWKNEEEGEKMPRCLPVCGKPVNPVTQKQRIIGGQKANPGNFPWQAFTNIHGRGGGALLGDRWILTAAHTIYPKEHNKENNVNVSKDVFLGHTNVEEIKKLGHHPVRRVIIHPDYRQDEPNNFEGDIALLELENSVTLGPNLLPICLPDNETFYDKDLMGYVSGFGITEDKIAFNLRFVRLPIADREACQRWLRTKNSNDVFSQNMFCSGDPTLKHDACQGDSGGVFAVRDRSRDIWVATGIVSWGIGCGEGYGFYTKLLNYVDWIKKEIGDEN",
"length": 707
},
"evidence": [
{
"id": "45931566",
"url": "http://www.informatics.jax.org/homology/45931566",
"database": "MGI"
},
{
"id": "45931565",
"url": "http://www.informatics.jax.org/homology/45931565",
"database": "MGI"
}
],
"common_name": "Rat"
},
{
"uniprot_canonical_ac": "Q8CFG9-1",
"protein_name": "Complement C1r-B subcomponent",
"gene_name": "C1rb",
"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MWLFALLVTLFYGVEGSIYLPQKLYGEVTSPLYPKPYPSDLETTTVITVPMGYRVKLVFWQFDVEPSEGCLYDYVKISADKQTLGRFCGQLDSPLGNPPGSKEFMSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDLDECASQPNSVEEGLQPRCQHLCHNYVGGYFCSCHPGYELQKDGQSCQAECSSELYTEPSGYVSSLEYPQPYPPDLRCNYSIRVERGLTVHLKFLDPFEIDDHQQVHCPYDQLQIYANGKNLGEFCGKQRPPDLDTSSNAVDLLFFTDESGDSRGWKLHYTTETIKCPQPKALDEFTIIQDPQPQYQFRDYFTVTCKQGYQLMEGNQALLSFTAVCQHDGTWHRAMPRCKIKNCGQPQSLSNGDFRYITTKGVTTYEASIQYHCHEPYYKMLTRAGSSESMRGIYTCTAQGIWKNEEEGEKMPRCLPVCGKPVNPVTQKERIIGGQPARPGNFPWQAFTTIYGPGGGALLGDRWILTAAHTIYPKYPNKGKNTNPRTLVFLGHTNMEQIQKLGHHPVRRVIIHPDYRQEEPDNFEGDIALLELENSVTLGPELLPICLPDNETFYGQGLMGYVSGFGTTGNRIPFHLRFVRLPVADREACQRWLWTKKDTSPFSQNMFCSGDPAVQQDACQGDSGGVFAVRDRNRDIWVATGIVSWGIGCGEGYGFYTKVLNYVDWIKKEMGDEN",
"length": 706
},
"evidence": [
{
"id": "45931565",
"url": "http://www.informatics.jax.org/homology/45931565",
"database": "MGI"
}
],
"common_name": "Mouse"
},
{
"uniprot_canonical_ac": "Q8CG16-1",
"protein_name": "Complement C1r-A subcomponent",
"gene_name": "C1ra",
"tax_id": 10090,
"organism": "Mus musculus",
"sequence": {
"sequence": "MWLFALLVTLFYGVEGSIYLPQKLYGEVTSPLYPKPYPSDLETTTVITVPMGYRVKLVFWQFDVEPSEGCFYDYVKISADKQTLGRFCGQLDSPLGNPPGSKEFMSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDLDECASQPNSVEEGLQPRCQHLCHNYVGGYFCSCHPGYELQKDGQSCQAECSSELYTEPSGYVSSLEYPQPYPPDLRCNYSIRVERGLTVHLKFLDPFEIDDHQQVHCPYDQLQIYANGKNLGEFCGKQRPPDLDTSSNAVDLLFFTDESGDSRGWKLHYTTETIKCPQPKALDEFTIIQDPQPQYQFRDYFIVTCKQGYQLMEGNQALLSFTAVCQNDGTWHRAMPRCKIKNCGQPQSLSNGDFRYITTKGVTTYEASIQYHCHEPYYKMLTRAGSSESMRGIYTCTAQGIWKNEEEGEKMPRCLPVCGKPVNPVTQKERIIRGQPARPGNFPWQAFTTTHGRGGGALLGDRWILTAAHTIYPKHHNKENDNANPKMLVFLGHTNVEQIKKLGHHPVRRVIIHPDYRQDEPNNFEGDIALLELENSVTLGPELLPICLPDNETFYGQGLMGYVSGFGITEDKLAFDLRFVRLPVADSEACQRWLQTKKDTSPFSQNMFCSGDPAVQQDACQGDSGGVFAVRDRNRDIWVATGIVSWGIGCGEGYGFYTKVLNYVDWIKKEMGDEN",
"length": 707
},
"evidence": [
{
"id": "45931566",
"url": "http://www.informatics.jax.org/homology/45931566",
"database": "MGI"
}
],
"common_name": "Mouse"
}
],
"go_annotation": {
"categories": [
{
"name": "Molecular Function",
"total": 5,
"go_terms": [
{
"name": "serine-type endopeptidase activity",
"id": "GO:0004252",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"pmid": ""
},
{
"name": "identical protein binding",
"id": "GO:0042802",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"pmid": ""
},
{
"name": "calcium ion binding",
"id": "GO:0005509",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"pmid": ""
},
{
"name": "serine-type peptidase activity",
"id": "GO:0008236",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008236",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"pmid": ""
},
{
"name": "molecular sequestering activity",
"id": "GO:0140313",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140313",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"pmid": ""
}
]
},
{
"name": "Cellular Component",
"total": 4,
"go_terms": [
{
"name": "extracellular region",
"id": "GO:0005576",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"pmid": ""
},
{
"name": "extracellular space",
"id": "GO:0005615",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"pmid": ""
},
{
"name": "extracellular exosome",
"id": "GO:0070062",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"pmid": ""
},
{
"name": "blood microparticle",
"id": "GO:0072562",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"pmid": ""
}
]
},
{
"name": "Biological Process",
"total": 6,
"go_terms": [
{
"name": "immune response",
"id": "GO:0006955",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"pmid": ""
},
{
"name": "innate immune response",
"id": "GO:0045087",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"pmid": ""
},
{
"name": "zymogen activation",
"id": "GO:0031638",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031638",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"pmid": ""
},
{
"name": "complement activation, classical pathway",
"id": "GO:0006958",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"pmid": ""
},
{
"name": "proteolysis",
"id": "GO:0006508",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"pmid": ""
},
{
"name": "complement activation",
"id": "GO:0006956",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006956",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [
{
"name": "complement C1r subcomponent N-glycosylated 1 (human)",
"definition": "A complement C1r subcomponent (human) that has been N-glycosylated at the residue equivalent to Asn-221 of the amino acid sequence represented by UniProtKB:P00736-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P00736-1, Asn-221, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]",
"evidence": [
{
"id": "PR:000051071",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000051071"
}
]
},
{
"name": "complement C1r subcomponent N-glycosylated 2 (human)",
"definition": "A complement C1r subcomponent (human) that has been N-glycosylated at the residue equivalent to Asn-514 of the amino acid sequence represented by UniProtKB:P00736-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P00736-1, Asn-514, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]",
"evidence": [
{
"id": "PR:000051072",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000051072"
}
]
},
{
"name": "complement C1r subcomponent N-glycosylated 3 (human)",
"definition": "A complement C1r subcomponent (human) that has been N-glycosylated at the residue equivalent to Asn-514 of the amino acid sequence represented by UniProtKB:P00736-1, in which the glycan structure is represented by GlyTouCan:G42358LZ. Example: UniProtKB:P00736-1, Asn-514, MOD:00160~GNO:G42358LZ. [PRO:DNx, PMID:24279413]",
"evidence": [
{
"id": "PR:000051073",
"database": "PRO",
"url": "https://proconsortium.org/app/entry/PR:000051073"
}
]
}
],
"site_annotation": [
{
"start_pos": 125,
"end_pos": 127,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 221,
"end_pos": 223,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 514,
"end_pos": 516,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 581,
"end_pos": 583,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [
{
"annotation": "The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.",
"evidence": [
{
"database": "UniProtKB",
"id": "P00736",
"url": "https://www.uniprot.org/uniprot/P00736"
},
{
"database": "PubMed",
"id": "2820791",
"url": "https://glygen.org/publication/PubMed/2820791"
}
]
}
],
"interactions": [],
"reactions": [
{
"id": "R-HSA-166753",
"name": "Conversion of C4 into C4a and C4b",
"equation": "",
"summary": "The alpha chain of C4 is cleaved, releasing an N-terminal portion of this chain as C4a. The beta and gamma chains are not cleaved and remain linked to the alpha chain by disulfide bonds (Nagasawa et al. 1976, 1980). The resulting C4b heterotrimer undergoes a gross conformational change; the internal thioester in C4b becomes exposed and able to form covalent bonds with surrounding molecules (Law and Dodds 1997). A large proportion of the bonds formed are with water, but some will attach C4b to biological surfaces (Rother et al. 1998). This irreversible reaction can be catalyzed by activated MBL, generated through the lectin pathway of complement activation (Fujita et al. 2004; Hajela et al. 2002), and by activated C1, generated through the classical pathway (Muller-Eberhard and Lepow 1965).
N.B. Humans have two highly polymorphic loci for Complement factor 4, C4A and C4B. C4A alleles carry the Rodgers (Rg) blood group antigens while the C4B alleles carry the Chido (Ch) blood group antigens. The two loci encode non identical C4 peptides; C4 derived from C4A reacts more rapidly with the amino groups of peptide antigens while C4B allotypes react more rapidly with the hydroxyl group of carbohydrate antigens. The names of the two loci are always represented in uppercase. C4a and C4b refer to the peptide products of Complement Factor 4 cleavage.",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00736-1",
"P09871-1",
"P48740-1"
],
"evidence": [
{
"id": "R-HSA-166753",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166753"
}
]
},
{
"id": "R-HSA-166792",
"name": "Conversion of C2 into C2a and C2b",
"equation": "",
"summary": "C2 is cleaved into the large C2a and the small C2b fragment. This irreversible, extracellular reaction can be catalyzed by activated MBL, generated through the lectin pathway of complement activation (Vorup-Jensen et al. 2000), and by activated C1, generated through the classical pathway (Nasagawa and Stroud 1977). N.B. Early literature refers to the larger fragment of C2 as C2a. However, complement scientists decided that the smaller of all C fragments should be designated with an 'a', the larger with a 'b', changing the nomenclature for C2. For this reason recent literature may refer to the larger C2 fragment as C2b, and the classical C3 convertase as C4bC2b. Throughout this pathway, Reactome uses the current (Feb 2012) Uniprot names which adhere to the original naming practice.",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [
"R-HSA-166778"
],
"output_participant_list": [
"R-HSA-166780",
"R-HSA-166781"
],
"enzyme_list": [
"P00736-1",
"P09871-1",
"P06681-1",
"P48740-1"
],
"evidence": [
{
"id": "R-HSA-166792",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166792"
}
]
},
{
"id": "R-HSA-173626",
"name": "Activation of C1r",
"equation": "",
"summary": "C1 activation requires interaction with two separate Fc domains, so pentavalent IgM antibody is far more efficient at complement activation than IgG antibody (Muller-Eberhard and Kunkel 1961). Antibody binding results in a conformational change in the C1r component of the C1 complex and a proteolytic cleavage of C1r, activating it (Ziccardi and Cooper 1976). This reaction is irreversible under physiological conditions.",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00736-1",
"P09871-1"
],
"evidence": [
{
"id": "R-HSA-173626",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-173626"
}
]
},
{
"id": "R-HSA-173631",
"name": "Activation of C1s",
"equation": "",
"summary": "In this irreversible reaction, the activated C1r subunit of the C1:antibody:antigen complex cleaves the C1s subunit of the complex, activating it in turn (Ziccardi and Cooper 1976). The resulting complex is a C4 activator.",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00736-1",
"P09871-1"
],
"evidence": [
{
"id": "R-HSA-173631",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-173631"
}
]
},
{
"id": "R-HSA-8852266",
"name": "C1-Inh binds Antigen: antibody: C1 complex activated C1r, C1s",
"equation": "",
"summary": "The plasma protease C1 inhibitor (C1Inh, SERPING1) can bind the activated C1r and C1s proteases in the activated C1 complex, rendering them proteolytically inactive (Sim et al. 1979a) and leading to the disassembly of the C1 complex, releasing inactive C1r:C1Inh and C1s:C1Inh complexes (Arlaud et al. 1979, Sim et al. 1979b, Ziccardi & Cooper 1979). C1Inh also inhibits and controls certain non-antibody-induced as well as spontaneous C1 activation. Thus C1Inh plays an important role in regulating nonspecific complement activation (Ziccardi et al. 1983). C1Inh is also a major physiological inhibitor of kallikrein (Ratnoff et al. 1969), coagulation factors XIa and XIIa (Forbes et al. 1970), and the enzymatically active fragments derived from factor XIIa (factor XIIf) (Schreiber et al. 1973).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00736-1",
"P09871-1"
],
"evidence": [
{
"id": "R-HSA-8852266",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852266"
}
]
},
{
"id": "R-HSA-8852481",
"name": "Antigen:IgG:C1Q:2xActivated C1R:SERPING1:2xActivated C1S:SERPING1 dissociates",
"equation": "",
"summary": "Binding of the plasma protease C1 inhibitor (C1Inh, SERPING1) to the C1s and C1r subunits of the C1 complex leads to C1 disassembly, releasing inactive C1r:C1Inh and C1s:C1Inh complexes (Arlaud et al. 1979, Sim et al. 1979, Ziccardi & Cooper 1979). Thus C1Inh plays an important role in regulating nonspecific complement activation (Ziccardi et al. 1983).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00736-1",
"P09871-1"
],
"evidence": [
{
"id": "R-HSA-8852481",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852481"
}
]
},
{
"id": "R-HSA-9021306",
"name": "C1-Inh binds and inactivates C1r, C1s",
"equation": "",
"summary": "The plasma protease C1 inhibitor (C1Inh, SERPING1) forms proteolytically inactive stoichiometric covalent complexes with the C1r and C1s proteases (Sim et al. 1979a). This effectively disassembles the C1 complex, releasing inactive C1r:C1Inh and C1s:C1Inh complexes (Arlaud et al. 1979, Sim et al. 1979b, Ziccardi & Cooper 1979). C1Inh also inhibits and controls certain non-antibody-induced as well as spontaneous C1 activation. Thus C1Inh plays an important role in regulating nonspecific complement activation (Ziccardi et al. 1983). C1Inh is also a major physiological inhibitor of kallikrein (Ratnoff et al. 1969), coagulation factors XIa and XIIa (Forbes et al. 1970), and the enzymatically active fragments derived from factor XIIa (factor XIIf) (Schreiber et al. 1973).",
"cellular_location": "extracellular region, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P00736-1",
"P09871-1"
],
"evidence": [
{
"id": "R-HSA-9021306",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9021306"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-HSA-166778",
"participant_name": "C2 [extracellular region]",
"crossref": [
{
"id": "P06681",
"database": "UniProt",
"url": ""
},
{
"id": "2I6Q",
"database": "PDB",
"url": ""
},
{
"id": "P06681",
"database": "PRO",
"url": ""
},
{
"id": "ENSP00000449286",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000372853",
"database": "Ensembl",
"url": ""
},
{
"id": "2ODP",
"database": "PDB",
"url": ""
},
{
"id": "ENSP00000402278",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000550682",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000442278",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000375510",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000226560",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000407961",
"database": "Ensembl",
"url": ""
},
{
"id": "P06681",
"database": "GeneCards",
"url": ""
},
{
"id": "ENST00000549972",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000235696",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000405800",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000392322",
"database": "Ensembl",
"url": ""
},
{
"id": "2I6S",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000551648",
"database": "Ensembl",
"url": ""
},
{
"id": "P06681",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "ENST00000548973",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000299367",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000548995",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_000054.2",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSP00000364660",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000449715",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000448206",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000480739",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000166278",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000206372",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000481651",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000551081",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000166278-C2",
"database": "HPA",
"url": ""
},
{
"id": "ENSG00000166278",
"database": "OpenTargets",
"url": ""
},
{
"id": "ENSP00000450387",
"database": "Ensembl",
"url": ""
},
{
"id": "15385",
"database": "Orphanet",
"url": ""
},
{
"id": "ENST00000612228",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000392835",
"database": "Ensembl",
"url": ""
},
{
"id": "3ERB",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000204364",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000411803",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000299367",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000482616",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_001139375.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENST00000413548",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000383362",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000231543",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000615380",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_001171534.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSP00000446728",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000618254",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000621558",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000395683",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000447632",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000452323",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000235017",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000416252",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000483231",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000446639",
"database": "Ensembl",
"url": ""
},
{
"id": "2ODQ",
"database": "PDB",
"url": ""
}
]
},
{
"participant_id": "R-HSA-166780",
"participant_name": "C2a [extracellular region]",
"crossref": [
{
"id": "ENST00000615380",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000405800",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000551081",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000235017",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_000054.2",
"database": "RefSeq",
"url": ""
},
{
"id": "ENST00000550682",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000204364",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000449286",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000480739",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_001139375.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSP00000407961",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000621558",
"database": "Ensembl",
"url": ""
},
{
"id": "P06681",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "15385",
"database": "Orphanet",
"url": ""
},
{
"id": "ENSP00000483231",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000206372",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000549972",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000383362",
"database": "Ensembl",
"url": ""
},
{
"id": "2ODP",
"database": "PDB",
"url": ""
},
{
"id": "ENSP00000392835",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000447632",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000299367",
"database": "Ensembl",
"url": ""
},
{
"id": "2I6Q",
"database": "PDB",
"url": ""
},
{
"id": "ENSP00000449715",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000299367",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000375510",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000446728",
"database": "Ensembl",
"url": ""
},
{
"id": "2I6S",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000166278",
"database": "OpenTargets",
"url": ""
},
{
"id": "2ODQ",
"database": "PDB",
"url": ""
},
{
"id": "ENSP00000481651",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000235696",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000231543",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000402278",
"database": "Ensembl",
"url": ""
},
{
"id": "3ERB",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000452323",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000548995",
"database": "Ensembl",
"url": ""
},
{
"id": "P06681",
"database": "PRO",
"url": ""
},
{
"id": "ENSP00000450387",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000618254",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000551648",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000446639",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000448206",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000226560",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000482616",
"database": "Ensembl",
"url": ""
},
{
"id": "P06681",
"database": "UniProt",
"url": ""
},
{
"id": "ENSG00000166278",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000413548",
"database": "Ensembl",
"url": ""
},
{
"id": "P06681",
"database": "GeneCards",
"url": ""
},
{
"id": "ENSP00000395683",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000548973",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000372853",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000612228",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000416252",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000166278-C2",
"database": "HPA",
"url": ""
},
{
"id": "ENSP00000392322",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_001171534.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENST00000442278",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000411803",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000364660",
"database": "Ensembl",
"url": ""
}
]
},
{
"participant_id": "R-HSA-166781",
"participant_name": "C2b [extracellular region]",
"crossref": [
{
"id": "ENST00000551081",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000615380",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000405800",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000550682",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000204364",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000235017",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_000054.2",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSP00000449286",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000480739",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_001139375.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENSP00000407961",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000621558",
"database": "Ensembl",
"url": ""
},
{
"id": "P06681",
"database": "Pharos - Targets",
"url": ""
},
{
"id": "15385",
"database": "Orphanet",
"url": ""
},
{
"id": "ENSP00000483231",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000206372",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000549972",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000383362",
"database": "Ensembl",
"url": ""
},
{
"id": "2ODP",
"database": "PDB",
"url": ""
},
{
"id": "ENSP00000392835",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000447632",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000299367",
"database": "Ensembl",
"url": ""
},
{
"id": "2I6Q",
"database": "PDB",
"url": ""
},
{
"id": "ENSP00000449715",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000299367",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000375510",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000446728",
"database": "Ensembl",
"url": ""
},
{
"id": "2I6S",
"database": "PDB",
"url": ""
},
{
"id": "ENSG00000166278",
"database": "OpenTargets",
"url": ""
},
{
"id": "2ODQ",
"database": "PDB",
"url": ""
},
{
"id": "ENSP00000481651",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000235696",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000231543",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000402278",
"database": "Ensembl",
"url": ""
},
{
"id": "3ERB",
"database": "PDB",
"url": ""
},
{
"id": "ENST00000452323",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000548995",
"database": "Ensembl",
"url": ""
},
{
"id": "P06681",
"database": "PRO",
"url": ""
},
{
"id": "ENSP00000450387",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000618254",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000551648",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000446639",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000448206",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000226560",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000482616",
"database": "Ensembl",
"url": ""
},
{
"id": "P06681",
"database": "UniProt",
"url": ""
},
{
"id": "ENSG00000166278",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000413548",
"database": "Ensembl",
"url": ""
},
{
"id": "P06681",
"database": "GeneCards",
"url": ""
},
{
"id": "ENSP00000395683",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000548973",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000372853",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000612228",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000416252",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSG00000166278-C2",
"database": "HPA",
"url": ""
},
{
"id": "ENSP00000392322",
"database": "Ensembl",
"url": ""
},
{
"id": "NP_001171534.1",
"database": "RefSeq",
"url": ""
},
{
"id": "ENST00000442278",
"database": "Ensembl",
"url": ""
},
{
"id": "ENST00000411803",
"database": "Ensembl",
"url": ""
},
{
"id": "ENSP00000364660",
"database": "Ensembl",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
"uniprot_ac": "P00736",
"gene_name": "C1R",
"activity": [
{
"ec_number": "3.4.21.41",
"activity": "Selective cleavage of Lys(or Arg)-|-Ile bond in complement subcomponent C1s to form the active form of C1s (EC 3.4.21.42).",
"evidence": [
{
"id": "P00736",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00736"
}
]
},
{
"ec_number": "3.4.21.41",
"activity": "",
"evidence": [
{
"id": "P00736",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00736"
}
]
}
]
},
{
"uniprot_ac": "P06681",
"gene_name": "C2",
"activity": [
{
"ec_number": "3.4.21.43",
"activity": "Selective cleavage of Arg-|-Ser bond in complement component C3 alpha-chain to form C3a and C3b, and Arg-|-Xaa bond in complement component C5 alpha-chain to form C5a and C5b.",
"evidence": [
{
"id": "P06681",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06681"
}
]
},
{
"ec_number": "3.4.21.43",
"activity": "",
"evidence": [
{
"id": "P06681",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P06681"
}
]
}
]
},
{
"uniprot_ac": "P09871",
"gene_name": "C1S",
"activity": [
{
"ec_number": "3.4.21.42",
"activity": "Cleavage of Arg-|-Ala bond in complement component C4 to form C4a and C4b, and Lys(or Arg)-|-Lys bond in complement component C2 to form C2a and C2b: the 'classical' pathway C3 convertase.",
"evidence": [
{
"id": "P09871",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P09871"
}
]
},
{
"ec_number": "3.4.21.42",
"activity": "",
"evidence": [
{
"id": "P09871",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P09871"
}
]
}
]
},
{
"uniprot_ac": "P48740",
"gene_name": "MASP1",
"activity": [
{
"ec_number": "3.4.21.-",
"activity": "",
"evidence": [
{
"id": "P48740",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P48740"
}
]
}
]
}
],
"biomarkers": [],
"synthesized_glycans": [],
"cluster_types": [
{
"name": "isoformset.uniprotkb",
"label": "Isoforms"
},
{
"name": "homologset.mgi",
"label": "MGI Homologs"
}
],
"sequence_features": {
"n_linked_sites": [
125,
221,
514,
581
],
"o_linked_sites": [],
"snv_sites": [
125,
127,
277,
497,
514,
515,
566,
583,
630
],
"glycation_sites": [],
"phosphorylation_sites": [
206
],
"sequon_annotation_sites": [
{
"start_pos": 125,
"end_pos": 127
},
{
"start_pos": 221,
"end_pos": 223
},
{
"start_pos": 514,
"end_pos": 516
},
{
"start_pos": 581,
"end_pos": 583
}
]
},
"section_stats": [
{
"table_id": "glycosylation",
"table_stats": [
{
"field": "total",
"count": 25
},
{
"field": "total_sites",
"count": 4
},
{
"field": "n_linked_glycans",
"count": 17
},
{
"field": "n_linked_glycan_sites",
"count": 7
},
{
"field": "o_linked_glycans",
"count": 0
},
{
"field": "o_linked_glycan_sites",
"count": 0
}
],
"sort_fields": [
"glytoucan_ac",
"type",
"subtype",
"site_category",
"site_seq",
"relation",
"comment",
"start_pos",
"start_aa",
"end_pos",
"end_aa",
"residue",
"site_lbl"
]
},
{
"table_id": "glycosylation_reported",
"table_stats": [
{
"field": "total",
"count": 3
},
{
"field": "total_sites",
"count": 3
},
{
"field": "n_linked_glycans",
"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 3
},
{
"field": "o_linked_glycans",
"count": 0
},
{
"field": "o_linked_glycan_sites",
"count": 0
}
],
"sort_fields": [
"glytoucan_ac",
"type",
"subtype",
"site_category",
"site_seq",
"relation",
"comment",
"start_pos",
"start_aa",
"end_pos",
"end_aa",
"residue",
"site_lbl"
]
},
{
"table_id": "glycosylation_reported_with_glycan",
"table_stats": [
{
"field": "total",
"count": 21
},
{
"field": "total_sites",
"count": 3
},
{
"field": "n_linked_glycans",
"count": 17
},
{
"field": "n_linked_glycan_sites",
"count": 3
},
{
"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": 1
},
{
"field": "total_sites",
"count": 1
},
{
"field": "n_linked_glycans",
"count": 0
},
{
"field": "n_linked_glycan_sites",
"count": 1
},
{
"field": "o_linked_glycans",
"count": 0
},
{
"field": "o_linked_glycan_sites",
"count": 0
}
],
"sort_fields": [
"glytoucan_ac",
"type",
"subtype",
"site_category",
"site_seq",
"relation",
"comment",
"start_pos",
"start_aa",
"end_pos",
"end_aa",
"residue",
"site_lbl"
]
},
{
"table_id": "glycosylation_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": 2
},
{
"field": "total_sites",
"count": 1
}
],
"sort_fields": [
"start_pos",
"end_pos",
"kinase_uniprot_canonical_ac",
"kinase_gene_name",
"residue",
"comment",
"site_lbl"
]
},
{
"table_id": "snv",
"table_stats": [
{
"field": "total",
"count": 11
},
{
"field": "total_sites",
"count": 9
}
],
"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": 11
},
{
"field": "total_sites",
"count": 9
}
],
"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": 83
}
],
"sort_fields": [
"title",
"journal",
"date",
"authors"
]
}
]
}