{ "uniprot_canonical_ac": "P01031-1", "uniprot_ac": "P01031", "uniprot_id": "CO5_HUMAN", "mass": { "chemical_mass": 188305.0, "monoisotopic_mass": 188305.0 }, "refseq": { "ac": "NP_001304092", "name": "complement C5 isoform 2", "summary": "This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304092" }, "gene_names": [ { "name": "C5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P01031", "id": "P01031" }, { "name": "C5a; C5b; C5D; CPAMD4; ECLZB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304092", "id": "NP_001304092" }, { "name": "C5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304092", "id": "NP_001304092" }, { "name": "CPAMD4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P01031", "id": "P01031" } ], "protein_names": [ { "name": "Complement C5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P01031" }, { "name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P01031" }, { "name": "anaphylatoxin C5a analog; complement component 5; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4; prepro-C5; C5a anaphylatoxin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304092", "id": "NP_001304092" }, { "name": "complement C5 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304092", "id": "NP_001304092" } ], "function": [ { "annotation": "A Transcriptome Array-Based Approach to Link SGLT-2 and Intrarenal Complement C5 Synthesis in Diabetic Nephropathy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001304092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304092" }, { "database": "PubMed", "id": "38069385", "url": "https://glygen.org/publication/PubMed/38069385" } ] }, { "annotation": "Activation of C5 by a C5 convertase initiates the spontaneous assembly of the late complement components, C5-C9, into the membrane attack complex. C5b has a transient binding site for C6. The C5b-C6 complex is the foundation upon which the lytic complex is assembled.", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031#function" } ] }, { "annotation": "C5a elevation in convalescents from severe COVID-19 is not associated with early complement activation markers C3bBbP or C4d. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001304092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304092" }, { "database": "PubMed", "id": "36091057", "url": "https://glygen.org/publication/PubMed/36091057" } ] }, { "annotation": "Derived from proteolytic degradation of complement C5, C5a anaphylatoxin is a mediator of local inflammatory process. Binding to the receptor C5AR1 induces a variety of responses including intracellular calcium release, contraction of smooth muscle, increased vascular permeability, and histamine release from mast cells and basophilic leukocytes (PubMed:8182049). C5a is also a potent chemokine which stimulates the locomotion of polymorphonuclear leukocytes and directs their migration toward sites of inflammation.", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031#function" }, { "database": "PubMed", "id": "8182049", "url": "https://glygen.org/publication/PubMed/8182049" } ] }, { "annotation": "Differential contributions of the C5b-9 and C5a/C5aR pathways to microvascular and macrovascular thrombosis in complement-mediated thrombotic microangiopathy patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001304092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304092" }, { "database": "PubMed", "id": "38101498", "url": "https://glygen.org/publication/PubMed/38101498" } ] }, { "annotation": "Dual inhibition of complement C5 and CD14 attenuates inflammation in a cord blood model.", "evidence": [ { "database": "RefSeq", "id": "NP_001304092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304092" }, { "database": "PubMed", "id": "36725909", "url": "https://glygen.org/publication/PubMed/36725909" } ] }, { "annotation": "This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001304092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304092" } ] } ], "disease": [ { "disease_id": "DOID:8158", "recommended_name": { "id": "DOID:8158", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8158", "name": "complement component 5 deficiency", "description": "A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system." }, "synonyms": [ { "id": "DOID:8158", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8158", "name": "C5 deficiency", "description": "" }, { "id": "MONDO:0012295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012295", "name": "complement component 5 deficiency", "description": "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections." }, { "id": "MONDO:0012295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012295", "name": "C5 complement deficiency", "description": "" }, { "id": "MONDO:0012295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012295", "name": "C5 deficiency", "description": "" }, { "id": "MONDO:0012295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012295", "name": "complement component 5 deficiency", "description": "" }, { "id": "MONDO:0012295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012295", "name": "complement deficiency caused by mutation in C5", "description": "" }, { "id": "MONDO:0012295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012295", "name": "C5D", "description": "" }, { "id": "MONDO:0012295", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012295", "name": "dysfunction of the fifth component of complement (C5)", "description": "" }, { "id": "MIM:609536", "resource": "MIM", "url": "https://www.omim.org/entry/609536", "name": "Complement component 5 deficiency", "description": "Complement component 5 deficiency" } ], "evidence": [ { "id": "609536", "database": "MIM", "url": "https://www.omim.org/entry/609536" } ] }, { "disease_id": "MONDO:0014330", "recommended_name": { "id": "MONDO:0014330", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014330", "name": "obsolete eculizumab, poor response to", "description": "" }, "synonyms": [ { "id": "MONDO:0014330", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014330", "name": "eculizumab, poor response to", "description": "" } ], "evidence": [ { "id": "615749", "database": "MIM", "url": "https://www.omim.org/entry/615749" } ] } ], "snv": [ { "evidence": [ { "id": "rs1020082194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1020082194" }, { "id": "rs1020082194", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1020082194" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1063, "end_pos": 1063, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "9", "chr_pos": "120989089", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1063", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs143947726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143947726" }, { "id": "rs143947726", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs143947726" }, { "id": "rs143947726", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs143947726" }, { "id": "rs143947726", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs143947726#frequency_tab" }, { "id": "rs143947726", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs143947726" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 110, "end_pos": 110, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HFS->NFS).", "chr_id": "9", "chr_pos": "121043097", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.001398", "site_lbl": "H110", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770347709", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770347709" }, { "id": "rs770347709", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770347709" }, { "id": "rs770347709", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770347709" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1115, "end_pos": 1115, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->SGS).", "chr_id": "9", "chr_pos": "120982701", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1115", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P01031", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01031" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1117, "end_pos": 1117, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGS->NGY).", "chr_id": "9", "chr_pos": "120982695", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S1117", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P01031", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01031" } ], "glycoeffect": [], "start_pos": 1206, "end_pos": 1206, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (5).", "chr_id": "9", "chr_pos": "120980125", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1206", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1261359433", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1261359433" }, { "id": "rs1261359433", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1261359433" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1235, "end_pos": 1235, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KDS->NDS).", "chr_id": "9", "chr_pos": "120976859", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1235", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs202114605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs202114605" }, { "id": "rs202114605", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs202114605#frequency_tab" }, { "id": "rs202114605", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs202114605" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1236, "end_pos": 1236, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "9", "chr_pos": "120976858", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1236", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1448530884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448530884" }, { "id": "rs1448530884", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1448530884" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1294, "end_pos": 1294, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAI->NAT).", "chr_id": "9", "chr_pos": "120974915", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1294", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771283592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771283592" }, { "id": "rs771283592", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771283592" }, { "id": "rs771283592", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771283592" }, { "id": "rs771283592", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs771283592#frequency_tab" }, { "id": "rs771283592", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771283592" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1314, "end_pos": 1314, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "9", "chr_pos": "120974856", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1314", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P01031", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01031" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1366, "end_pos": 1366, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HKT->NKT).", "chr_id": "9", "chr_pos": "120970236", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H1366", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1197990756", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1197990756" }, { "id": "rs1197990756", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1197990756#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1367, "end_pos": 1367, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KTS->NTS).", "chr_id": "9", "chr_pos": "120970231", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K1367", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1461624727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1461624727" }, { "id": "rs1461624727", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1461624727" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1425, "end_pos": 1425, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "9", "chr_pos": "120963686", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1425", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P01031", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01031" } ], "glycoeffect": [], "start_pos": 1478, "end_pos": 1478, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "W", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "9", "chr_pos": "120962743", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1478", "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" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs755260495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755260495" }, { "id": "rs755260495", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755260495" }, { "id": "rs755260495", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755260495" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1540, "end_pos": 1540, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "9", "chr_pos": "120960308", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1540", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P01031", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01031" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1578, "end_pos": 1578, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KAT->NAT).", "chr_id": "9", "chr_pos": "120957313", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K1578", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1407832189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1407832189" }, { "id": "rs1407832189", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1407832189" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1630, "end_pos": 1630, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->SFS).", "chr_id": "9", "chr_pos": "120953742", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1630", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs567288479", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs567288479" }, { "id": "rs567288479", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs567288479" }, { "id": "rs567288479", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs567288479" }, { "id": "rs567288479", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs567288479#frequency_tab" }, { "id": "rs567288479", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs567288479" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 238, "end_pos": 238, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFI->NFT).", "chr_id": "9", "chr_pos": "121030442", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "I238", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773453193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773453193" }, { "id": "rs773453193", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773453193" }, { "id": "rs773453193", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773453193" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 425, "end_pos": 425, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "9", "chr_pos": "121021538", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P425", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs765066684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765066684" }, { "id": "rs765066684", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765066684" }, { "id": "rs765066684", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765066684" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 448, "end_pos": 448, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQA->NQT).", "chr_id": "9", "chr_pos": "121020140", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A448", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P01031", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01031" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 529, "end_pos": 529, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NIP->NIS).", "chr_id": "9", "chr_pos": "121017774", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P529", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs773529922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773529922" }, { "id": "rs773529922", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773529922" }, { "id": "rs773529922", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773529922#frequency_tab" }, { "id": "rs773529922", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773529922" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 644, "end_pos": 644, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAN->NAS).", "chr_id": "9", "chr_pos": "121016319", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N644", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1239344218", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1239344218" }, { "id": "rs1239344218", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1239344218" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 72, "end_pos": 72, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HLS->NLS).", "chr_id": "9", "chr_pos": "121046235", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H72", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P01031", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01031" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 743, "end_pos": 743, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NIS->NIC).", "chr_id": "9", "chr_pos": "121013902", "ref_nt": "G", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S743", "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs748797024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748797024" }, { "id": "rs748797024", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs748797024" }, { "id": "rs748797024", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs748797024" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 83, "end_pos": 83, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSA->NSS).", "chr_id": "9", "chr_pos": "121046202", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A83", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P01031", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01031" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 913, "end_pos": 913, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFS->NFL).", "chr_id": "9", "chr_pos": "120997599", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S913", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1564141874", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1564141874" }, { "id": "rs1564141874", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1564141874" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 987, "end_pos": 987, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ILS->NLS).", "chr_id": "9", "chr_pos": "120989762", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I987", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "72.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106804", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106804" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "58.59", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000106804", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106804" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "70.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106804", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106804" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000106804", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106804" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "83.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106804", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106804" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "74.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106804", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106804" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000106804", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106804" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "73.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106804", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106804" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "70.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106804", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106804" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "52.42", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000106804", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106804" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "99.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106804", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106804" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "77.61", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106804", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106804" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "76.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000106804", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106804" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P01031", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01031" } ], "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": "P01031", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01031" } ], "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": "P01031", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01031" } ], "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": "P01031", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01031" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P01031", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01031" } ], "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": "P01031", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01031" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P01031", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01031" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P01031", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01031" } ], "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": "P01031", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01031" } ], "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": "P01031", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01031" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P01031", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01031" } ], "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": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P01031", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01031" } ], "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": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "common_name": "Human" } ], "gene": [ { "name": "C5", "url": "https://www.uniprot.org/uniprot/P01031", "locus": { "chromosome": "9", "start_pos": 102942, "end_pos": 5001, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_28", "url": "https://www.ensembl.org/id/LRG_28" } ] } } ], "crossref": [ { "id": "ENSG00000106804", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106804", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P01031", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01031", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "3.4.21.43", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.4.21.43&UniProtAcc=P01031", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd00017", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00017", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd02896", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02896", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd03582", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03582", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL2364163", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL2364163", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "C5", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=C5", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "727", "url": "https://www.ncbi.nlm.nih.gov/gene/727", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1147", "url": "https://glyconnect.expasy.org/browser/proteins/1147", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "1331", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1331", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P01031", "url": "https://www.ebi.ac.uk/intact/interactors/id:P01031*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000020", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000020", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001134", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001134", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001599", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001599", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001840", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001840", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002890", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002890", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008930", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008930", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008993", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008993", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009048", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009048", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011625", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011625", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011626", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011626", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018081", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018081", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018933", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018933", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036595", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036595", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR040839", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040839", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041425", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041425", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041555", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041555", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR048843", "url": "https://www.ebi.ac.uk/interpro/entry/IPR048843", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:727", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:727", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "120900", "url": "http://www.omim.org/entry/120900", "database": "MIM", "categories": [ "Other" ] }, { "id": "609536", "url": "http://www.omim.org/entry/609536", "database": "MIM", "categories": [ "Other" ] }, { "id": "615749", "url": "http://www.omim.org/entry/615749", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P01031", "url": "https://www.nextprot.org/entry/NX_P01031", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "YKRIIAC", "url": "https://omabrowser.org/oma/group/YKRIIAC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4033541at2759", "url": "http://www.orthodb.org/?query=4033541at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11412", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11412", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11412:SF83", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11412:SF83", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1CFA", "url": "https://www.rcsb.org/structure/1CFA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1KJS", "url": "https://www.rcsb.org/structure/1KJS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1XWE", "url": "https://www.rcsb.org/structure/1XWE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3CU7", "url": "https://www.rcsb.org/structure/3CU7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HQA", "url": "https://www.rcsb.org/structure/3HQA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HQB", "url": "https://www.rcsb.org/structure/3HQB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3KLS", "url": "https://www.rcsb.org/structure/3KLS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3KM9", "url": "https://www.rcsb.org/structure/3KM9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3PRX", "url": "https://www.rcsb.org/structure/3PRX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3PVM", "url": "https://www.rcsb.org/structure/3PVM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4A5W", "url": "https://www.rcsb.org/structure/4A5W", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4E0S", "url": "https://www.rcsb.org/structure/4E0S", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4P39", "url": "https://www.rcsb.org/structure/4P39", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4UU9", "url": "https://www.rcsb.org/structure/4UU9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5B4P", "url": "https://www.rcsb.org/structure/5B4P", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5B71", "url": "https://www.rcsb.org/structure/5B71", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5HCC", "url": "https://www.rcsb.org/structure/5HCC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5HCD", "url": "https://www.rcsb.org/structure/5HCD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5HCE", "url": "https://www.rcsb.org/structure/5HCE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5I5K", "url": "https://www.rcsb.org/structure/5I5K", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6H03", "url": "https://www.rcsb.org/structure/6H03", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6H04", "url": "https://www.rcsb.org/structure/6H04", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6RPT", "url": "https://www.rcsb.org/structure/6RPT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6RQJ", "url": "https://www.rcsb.org/structure/6RQJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AD6", "url": "https://www.rcsb.org/structure/7AD6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7AD7", "url": "https://www.rcsb.org/structure/7AD7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7NYC", "url": "https://www.rcsb.org/structure/7NYC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7NYD", "url": "https://www.rcsb.org/structure/7NYD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7Y64", "url": "https://www.rcsb.org/structure/7Y64", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8B0F", "url": "https://www.rcsb.org/structure/8B0F", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8B0G", "url": "https://www.rcsb.org/structure/8B0G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8B0H", "url": "https://www.rcsb.org/structure/8B0H", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8HK5", "url": "https://www.rcsb.org/structure/8HK5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00207", "url": "http://pfam.xfam.org/family/PF00207", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01759", "url": "http://pfam.xfam.org/family/PF01759", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01821", "url": "http://pfam.xfam.org/family/PF01821", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01835", "url": "http://pfam.xfam.org/family/PF01835", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07677", "url": "http://pfam.xfam.org/family/PF07677", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07678", "url": "http://pfam.xfam.org/family/PF07678", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07703", "url": "http://pfam.xfam.org/family/PF07703", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17789", "url": "http://pfam.xfam.org/family/PF17789", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17790", "url": "http://pfam.xfam.org/family/PF17790", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17791", "url": "http://pfam.xfam.org/family/PF17791", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF21309", "url": "http://pfam.xfam.org/family/PF21309", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P01031", "url": "https://pharos.nih.gov/targets/P01031", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000051501", "url": "https://proconsortium.org/app/entry/PR:000051501", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P01031", "url": "http://purl.obolibrary.org/obo/PR_P01031", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-166665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166665", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-174577", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174577", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "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_001304092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304092", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P01031", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A8Q3SID6", "url": "https://www.uniprot.org/uniprot/A0A8Q3SID6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SID6-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SID6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIH6", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIH6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8Q3SIH6-1", "url": "https://www.uniprot.org/uniprot/A0A8Q3SIH6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TMU5", "url": "https://www.uniprot.org/uniprot/A0A8V8TMU5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TMU5-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TMU5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TN26", "url": "https://www.uniprot.org/uniprot/A0A8V8TN26", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TN26-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TN26-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P01031-1", "url": "https://www.uniprot.org/uniprot/P01031-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGLLGILCFLIFLGKTWGQEQTYVISAPKIFRVGASENIVIQVYGYTEAFDATISIKSYPDKKFSYSSGHVHLSSENKFQNSAILTIQPKQLPGGQNPVSYVYLEVVSKHFSKSKRMPITYDNGFLFIHTDKPVYTPDQSVKVRVYSLNDDLKPAKRETVLTFIDPEGSEVDMVEEIDHIGIISFPDFKIPSNPRYGMWTIKAKYKEDFSTTGTAYFEVKEYVLPHFSVSIEPEYNFIGYKNFKNFEITIKARYFYNKVVTEADVYITFGIREDLKDDQKEMMQTAMQNTMLINGIAQVTFDSETAVKELSYYSLEDLNNKYLYIAVTVIESTGGFSEEAEIPGIKYVLSPYKLNLVATPLFLKPGIPYPIKVQVKDSLDQLVGGVPVTLNAQTIDVNQETSDLDPSKSVTRVDDGVASFVLNLPSGVTVLEFNVKTDAPDLPEENQAREGYRAIAYSSLSQSYLYIDWTDNHKALLVGEHLNIIVTPKSPYIDKITHYNYLILSKGKIIHFGTREKFSDASYQSINIPVTQNMVPSSRLLVYYIVTGEQTAELVSDSVWLNIEEKCGNQLQVHLSPDADAYSPGQTVSLNMATGMDSWVALAAVDSAVYGVQRGAKKPLERVFQFLEKSDLGCGAGGGLNNANVFHLAGLTFLTNANADDSQENDEPCKEILRPRRTLQKKIEEIAAKYKHSVVKKCCYDGACVNNDETCEQRAARISLGPRCIKAFTECCVVASQLRANISHKDMQLGRLHMKTLLPVSKPEIRSYFPESWLWEVHLVPRRKQLQFALPDSLTTWEIQGVGISNTGICVADTVKAKVFKDVFLEMNIPYSVVRGEQIQLKGTVYNYRTSGMQFCVKMSAVEGICTSESPVIDHQGTKSSKCVRQKVEGSSSHLVTFTVLPLEIGLHNINFSLETWFGKEILVKTLRVVPEGVKRESYSGVTLDPRGIYGTISRRKEFPYRIPLDLVPKTEIKRILSVKGLLVGEILSAVLSQEGINILTHLPKGSAEAELMSVVPVFYVFHYLETGNHWNIFHSDPLIEKQKLKKKLKEGMLSIMSYRNADYSYSVWKGGSASTWLTAFALRVLGQVNKYVEQNQNSICNSLLWLVENYQLDNGSFKENSQYQPIKLQGTLPVEARENSLYLTAFTVIGIRKAFDICPLVKIDTALIKADNFLLENTLPAQSTFTLAISAYALSLGDKTHPQFRSIVSALKREALVKGNPPIYRFWKDNLQHKDSSVPNTGTARMVETTAYALLTSLNLKDINYVNPVIKWLSEEQRYGGGFYSTQDTINAIEGLTEYSLLVKQLRLSMDIDVSYKHKGALHNYKMTDKNFLGRPVEVLLNDDLIVSTGFGSGLATVHVTTVVHKTSTSEEVCSFYLKIDTQDIEASHYRGYGNSDYKRIVACASYKPSREESSSGSSHAVMDISLPTGISANEEDLKALVEGVDQLFTDYQIKDGHVILQLNSIPSSDFLCVRFRIFELFEVGFLSPATFTVYEYHRPDKQCTMFYSTSNIKIQKVCEGAACKCVEADCGQMQEELDLTISAETRKQTACKPEIAYAYKVSITSITVENVFVKYKATLLDIYKTGEAVAEKDSEITFIKKVTCTNAELVKGRQYLIMGKEALQIKYNFSFRYIYPLDSLTWIEYWPRDTTCSSCQAFLANLDEFAEDIFLNGC", "length": 1676, "header": "sp|P01031-1|CO5_HUMAN Isoform 1 of Complement C5 OS=Homo sapiens OX=9606 GN=C5 PE=1 SV=4 CANONICAL=P01031-1" }, "isoforms": [ { "isoform_ac": "A0A8Q3SID6-1", "url": "", "sequence": { "sequence": "MPGSLGREASGRAGPTGCGAFAFGLRCRYVISAPKIFRVGASENIVIQVYGYTEAFDATISIKSYPDKKFSYSSGHVHLSSENKFQNSAILTIQPKQLPGGQNPVSYVYLEVVSKHFSKSKRMPITYDNGFLFIHTDKPVYTPDQSVKVRVYSLNDDLKPAKRETVLTFIDPEGSEVDMVEEIDHIGIISFPDFKIPSNPRYGMWTIKAKYKEDFSTTGTAYFEVKEYVLPHFSVSIEPEYNFIGYKNFKNFEITIKARYFYNKVVTEADVYITFGIREDLKDDQKEMMQTAMQNTMLINGIAQVTFDSETAVKELSYYSLEDLNNKYLYIAVTVIESTGGFSEEAEIPGIKYVLSPYKLNLVATPLFLKPGIPYPIKVQVKDSLDQLVGGVPVTLNAQTIDVNQETSDLDPSKSVTRVDDGVASFVLNLPSGVTVLEFNVKTDAPDLPEENQAREGYRAIAYSSLSQSYLYIDWTDNHKALLVGEHLNIIVTPKSPYIDKITHYNYLILSKGKIIHFGTREKFSDASYQSINIPVTQNMVPSSRLLVYYIVTGEQTAELVSDSVWLNIEEKCGNQLQVHLSPDADAYSPGQTVSLNMATGMDSWVALAAVDSAVYGVQRGAKKPLERVFQFLEKSDLGCGAGGGLNNANVFHLAGLTFLTNANADDSQENDEPCKEILRPRRTLQKKIEEIAAKYKHSVVKKCCYDGACVNNDETCEQRAARISLGPRCIKAFTECCVVASQLRANISHKDMQLGRLHMKTLLPVSKPEIRSYFPESWLWEVHLVPRRKQLQFALPDSLTTWEIQGVGISNTGICVADTVKAKVFKDVFLEMNIPYSVVRGEQIQLKGTVYNYRTSGMQFCVKMSAVEGICTSESPVIDHQGTKSSKCVRQKVEGSSSHLVTFTVLPLEIGLHNINFSLETWFGKEILVKTLRVVPEGVKRESYSGVTLDPRGIYGTISRRKEFPYRIPLDLVPKTEIKRILSVKGLLVGEILSAVLSQEGINILTHLPKGSAEAELMSVVPVFYVFHYLETGNHWNIFHSDPLIEKQKLKKKLKEGMLSIMSYRNADYSYSVWKGGSASTWLTAFALRVLGQVNKYVEQNQNSICNSLLWLVENYQLDNGSFKENSQYQPIKLQGTLPVEARENSLYLTAFTVIGIRKAFDICPLVKIDTALIKADNFLLENTLPAQSTFTLAISAYALSLGDKTHPQFRSIVSALKREALVKGNPPIYRFWKDNLQHKDSSVPNTGTARMVETTAYALLTSLNLKDINYVNPVIKWLSEEQRYGGGFYSTQDTINAIEGLTEYSLLVKQLRLSMDIDVSYKHKGALHNYKMTDKNFLGRPVEVLLNDDLIVSTGFGSGLATVHVTTVVHKTSTSEEVCSFYLKIDTQDIEASHYRGYGNSDYKRIVACASYKPSREESSSGSSHAVMDISLPTGISANEEDLKALVEGVDQLFTDYQIKDGHVILQLNSIPSSDFLCVRFRIFELFEVGFLSPATFTVYEYHRPDKQCTMFYSTSNIKIQKVCEGAACKCVEADCGQMQEELDLTISAETRKQTACKPEIAYAYKVSITSITVENVFVKYKATLLDIYKTGEAVAEKDSEITFIKKVTCTNAELVKGRQYLIMGKEALQIKYNFSFRYIYPLDSLTWIEYWPRDTTCSSCQAFLANLDEFAEDIFLNGC", "length": 1682, "header": "tr|A0A8Q3SID6-1|CO5_HUMAN Computationally mapped isoform of Complement C5 OS=Homo sapiens OX=9606 GN=C5 PE=1 SV=1 CANONICAL=P01031-1" }, "locus": { "chromosome": "9", "start_pos": 121074836, "end_pos": 120952742, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696281.1", "url": "https://www.ensembl.org/id/ENST00000696281.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512521.1", "url": "https://www.ensembl.org/id/ENSP00000512521.1" } ] } }, { "isoform_ac": "A0A8Q3SIH6-1", "url": "", "sequence": { "sequence": "XGPTGCGAFAFGLRCRWSLTLSPTKLRMQWRDLGSLQSPPPEFK", "length": 44, "header": "tr|A0A8Q3SIH6-1|CO5_HUMAN Computationally mapped isoform of Complement C5 OS=Homo sapiens OX=9606 GN=C5 PE=1 SV=1 CANONICAL=P01031-1" }, "locus": { "chromosome": "9", "start_pos": 121074798, "end_pos": 121067478, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696279.1", "url": "https://www.ensembl.org/id/ENST00000696279.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512520.1", "url": "https://www.ensembl.org/id/ENSP00000512520.1" } ] } }, { "isoform_ac": "A0A8V8TMU5-1", "url": "", "sequence": { "sequence": "FSEEAEIPGIKYVLSPYKLNLVATPLFLKPGIPYPIKVQVKDSLDQLVGGVPVTLNAQTIDVNQETSDLDPSKSVTRVDDGVASFVLNLPSGVTVLEFNVKTDAPDLPEENQAREGYRAIAYSSLSQSYLYIDWTDNHKALLVGEHLNIIVTPKSPYIDKITHYNYLILSKGKIIHFGTREKFSDASYQSINIPVTQNMVPSSRLLVYYIVTGEQTAELVSDSVWLNIEEKCGNQLQVHLSPDADAYSPGQTVSLNMATGMDSWVALAAVDSAVYGVQRGAKKPLERVFQFLEKSDLGCGAGGGLNNANVFHLAGLTFLTNANADDSQENDEPCKEILRPRRTLQKKIEEIAAKYKHSVVKKCCYDGACVNNDETCEQRAARISLGPRCIKAFTECCVVASQLRANISHKDMQLGRLHMKTLLPVSKPEIRSYFPESWLWEVHLVPRRKQLQFALPDSLTTWEIQGVGISNTGICVADTVKAKVFKDVFLEMNIPYSVVRGEQIQLKGTVYNYRTSGMQSLALSPRLECNGKISGHCKLRLPGSSDSPASASQVAGITGTHHHAQPT", "length": 567, "header": "tr|A0A8V8TMU5-1|CO5_HUMAN Computationally mapped isoform of Complement C5 OS=Homo sapiens OX=9606 GN=C5 PE=1 SV=1 CANONICAL=P01031-1" }, "locus": { "chromosome": "9", "start_pos": 121023514, "end_pos": 120999908, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000466280.2", "url": "https://www.ensembl.org/id/ENST00000466280.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000513491.1", "url": "https://www.ensembl.org/id/ENSP00000513491.1" } ] } }, { "isoform_ac": "A0A8V8TN26-1", "url": "", "sequence": { "sequence": "MPGSLGREASGRAGPTGCGAFAFGLRCRLITEKREECFKQHRI", "length": 43, "header": "tr|A0A8V8TN26-1|CO5_HUMAN Computationally mapped isoform of Complement C5 OS=Homo sapiens OX=9606 GN=C5 PE=1 SV=1 CANONICAL=P01031-1" }, "locus": { "chromosome": "9", "start_pos": 121074836, "end_pos": 121057952, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697922.1", "url": "https://www.ensembl.org/id/ENST00000697922.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513478.1", "url": "https://www.ensembl.org/id/ENSP00000513478.1" } ] } }, { "isoform_ac": "P01031-1", "url": "", "sequence": { "sequence": "MGLLGILCFLIFLGKTWGQEQTYVISAPKIFRVGASENIVIQVYGYTEAFDATISIKSYPDKKFSYSSGHVHLSSENKFQNSAILTIQPKQLPGGQNPVSYVYLEVVSKHFSKSKRMPITYDNGFLFIHTDKPVYTPDQSVKVRVYSLNDDLKPAKRETVLTFIDPEGSEVDMVEEIDHIGIISFPDFKIPSNPRYGMWTIKAKYKEDFSTTGTAYFEVKEYVLPHFSVSIEPEYNFIGYKNFKNFEITIKARYFYNKVVTEADVYITFGIREDLKDDQKEMMQTAMQNTMLINGIAQVTFDSETAVKELSYYSLEDLNNKYLYIAVTVIESTGGFSEEAEIPGIKYVLSPYKLNLVATPLFLKPGIPYPIKVQVKDSLDQLVGGVPVTLNAQTIDVNQETSDLDPSKSVTRVDDGVASFVLNLPSGVTVLEFNVKTDAPDLPEENQAREGYRAIAYSSLSQSYLYIDWTDNHKALLVGEHLNIIVTPKSPYIDKITHYNYLILSKGKIIHFGTREKFSDASYQSINIPVTQNMVPSSRLLVYYIVTGEQTAELVSDSVWLNIEEKCGNQLQVHLSPDADAYSPGQTVSLNMATGMDSWVALAAVDSAVYGVQRGAKKPLERVFQFLEKSDLGCGAGGGLNNANVFHLAGLTFLTNANADDSQENDEPCKEILRPRRTLQKKIEEIAAKYKHSVVKKCCYDGACVNNDETCEQRAARISLGPRCIKAFTECCVVASQLRANISHKDMQLGRLHMKTLLPVSKPEIRSYFPESWLWEVHLVPRRKQLQFALPDSLTTWEIQGVGISNTGICVADTVKAKVFKDVFLEMNIPYSVVRGEQIQLKGTVYNYRTSGMQFCVKMSAVEGICTSESPVIDHQGTKSSKCVRQKVEGSSSHLVTFTVLPLEIGLHNINFSLETWFGKEILVKTLRVVPEGVKRESYSGVTLDPRGIYGTISRRKEFPYRIPLDLVPKTEIKRILSVKGLLVGEILSAVLSQEGINILTHLPKGSAEAELMSVVPVFYVFHYLETGNHWNIFHSDPLIEKQKLKKKLKEGMLSIMSYRNADYSYSVWKGGSASTWLTAFALRVLGQVNKYVEQNQNSICNSLLWLVENYQLDNGSFKENSQYQPIKLQGTLPVEARENSLYLTAFTVIGIRKAFDICPLVKIDTALIKADNFLLENTLPAQSTFTLAISAYALSLGDKTHPQFRSIVSALKREALVKGNPPIYRFWKDNLQHKDSSVPNTGTARMVETTAYALLTSLNLKDINYVNPVIKWLSEEQRYGGGFYSTQDTINAIEGLTEYSLLVKQLRLSMDIDVSYKHKGALHNYKMTDKNFLGRPVEVLLNDDLIVSTGFGSGLATVHVTTVVHKTSTSEEVCSFYLKIDTQDIEASHYRGYGNSDYKRIVACASYKPSREESSSGSSHAVMDISLPTGISANEEDLKALVEGVDQLFTDYQIKDGHVILQLNSIPSSDFLCVRFRIFELFEVGFLSPATFTVYEYHRPDKQCTMFYSTSNIKIQKVCEGAACKCVEADCGQMQEELDLTISAETRKQTACKPEIAYAYKVSITSITVENVFVKYKATLLDIYKTGEAVAEKDSEITFIKKVTCTNAELVKGRQYLIMGKEALQIKYNFSFRYIYPLDSLTWIEYWPRDTTCSSCQAFLANLDEFAEDIFLNGC", "length": 1676, "header": "sp|P01031-1|CO5_HUMAN Isoform 1 of Complement C5 OS=Homo sapiens OX=9606 GN=C5 PE=1 SV=4 CANONICAL=P01031-1" }, "locus": { "chromosome": "9", "start_pos": 121050246, "end_pos": 120952742, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000223642.3", "url": "https://www.ensembl.org/id/ENST00000223642.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000223642.1", "url": "https://www.ensembl.org/id/ENSP00000223642.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G02030ZB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1115, "start_aa": "Asn", "end_pos": 1115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1115", "evidence": [ { "id": "1147", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1147" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G12580WI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1115, "start_aa": "Asn", "end_pos": 1115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1115", "evidence": [ { "id": "P01031", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1115, "start_aa": "Asn", "end_pos": 1115, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1115", "evidence": [ { "id": "P01031", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01031#ptm_processing" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 1630, "start_aa": "Asn", "end_pos": 1630, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1630", "evidence": [ { "id": "1147", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1147" }, { "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": 1630, "start_aa": "Asn", "end_pos": 1630, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1630", "evidence": [ { "id": "1147", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1147" }, { "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": 1630, "start_aa": "Asn", "end_pos": 1630, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1630", "evidence": [ { "id": "P01031", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01031#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "glytoucan_ac": "G10486CT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 741, "start_aa": "Asn", "end_pos": 741, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn741", "evidence": [ { "id": "P01031@N741", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P01031@N741" } ] }, { "glytoucan_ac": "G25418HZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 741, "start_aa": "Asn", "end_pos": 741, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn741", "evidence": [ { "id": "1147", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1147" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G38663NM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 741, "start_aa": "Asn", "end_pos": 741, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn741", "evidence": [ { "id": "1147", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1147" }, { "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": 741, "start_aa": "Asn", "end_pos": 741, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn741", "evidence": [ { "id": "1147", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1147" }, { "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": 741, "start_aa": "Asn", "end_pos": 741, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn741", "evidence": [ { "id": "P01031", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01031#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "18536718", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18536718" }, { "id": "3KLS", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3KLS" }, { "id": "3KM9", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3KM9" }, { "id": "3CU7", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3CU7" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 911, "start_aa": "Asn", "end_pos": 911, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn911", "evidence": [ { "id": "P01031", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01031#ptm_processing" }, { "id": "16335952", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16335952" }, { "id": "18536718", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18536718" }, { "id": "21217642", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21217642" }, { "id": "3KLS", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3KLS" }, { "id": "3KM9", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3KM9" }, { "id": "3CU7", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3CU7" }, { "id": "3PRX", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3PRX" }, { "id": "3PVM", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3PVM" }, { "id": "4E0S", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/4E0S" }, { "id": "5I5K", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/5I5K" } ] } ], "phosphorylation": [ { "start_pos": 971, "end_pos": 971, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P01031", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01031" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Thr971" }, { "start_pos": 993, "end_pos": 993, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P01031", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P01031" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser993" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Protease-activated receptors 1 and 4 mediate activation of human platelets by thrombin.", "journal": "The Journal of clinical investigation", "date": "1999", "authors": "Kahn ML, Nakanishi-Matsui M, Shapiro MJ, Ishihara H, Coughlin SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10079109", "url": "https://glygen.org/publication/PubMed/10079109" } ] }, { "title": "Discovery of a receptor related to the galanin receptors.", "journal": "FEBS letters", "date": "1999", "authors": "Lee DK, Nguyen T, O'Neill GP, Cheng R, Liu Y, Howard AD, Coulombe N, Tan CP, Tang-Nguyen AT, George SR, O'Dowd BF", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10100623", "url": "https://glygen.org/publication/PubMed/10100623" } ] }, { "title": "Receptor for motilin identified in the human gastrointestinal system.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Feighner SD, Tan CP, McKee KK, Palyha OC, Hreniuk DL, Pong SS, Austin CP, Figueroa D, MacNeil D, Cascieri MA, Nargund R, Bakshi R, Abramovitz M, Stocco R, Kargman S, O'Neill G, Van Der Ploeg LH, Evans J, Patchett AA, Smith RG, Howard AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10381885", "url": "https://glygen.org/publication/PubMed/10381885" } ] }, { "title": "Melanin-concentrating hormone is the cognate ligand for the orphan G-protein-coupled receptor SLC-1.", "journal": "Nature", "date": "1999", "authors": "Chambers J, Ames RS, Bergsma D, Muir A, Fitzgerald LR, Hervieu G, Dytko GM, Foley JJ, Martin J, Liu WS, Park J, Ellis C, Ganguly S, Konchar S, Cluderay J, Leslie R, Wilson S, Sarau HM", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10421367", "url": "https://glygen.org/publication/PubMed/10421367" } ] }, { "title": "Molecular characterization of the melanin-concentrating-hormone receptor.", "journal": "Nature", "date": "1999", "authors": "Saito Y, Nothacker HP, Wang Z, Lin SH, Leslie F, Civelli O", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10421368", "url": "https://glygen.org/publication/PubMed/10421368" } ] }, { "title": "Proteolytic processing of big endothelin-3 by the kell blood group protein.", "journal": "Blood", "date": "1999", "authors": "Lee S, Lin M, Mele A, Cao Y, Farmar J, Russo D, Redman C", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10438732", "url": "https://glygen.org/publication/PubMed/10438732" } ] }, { "title": "Extensive alternative splicing in the 5'-untranslated region of the rat and human neuropeptide Y Y5 receptor genes regulates receptor expression.", "journal": "Journal of neurochemistry", "date": "1999", "authors": "Parker EM, Xia L", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10461880", "url": "https://glygen.org/publication/PubMed/10461880" } ] }, { "title": "Tissue distribution of prolactin-releasing peptide (PrRP) and its receptor.", "journal": "Regulatory peptides", "date": "1999", "authors": "Fujii R, Fukusumi S, Hosoya M, Kawamata Y, Habata Y, Hinuma S, Sekiguchi M, Kitada C, Kurokawa T, Nishimura O, Onda H, Sumino Y, Fujino M", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10498338", "url": "https://glygen.org/publication/PubMed/10498338" } ] }, { "title": "Human urotensin-II is a potent vasoconstrictor and agonist for the orphan receptor GPR14.", "journal": "Nature", "date": "1999", "authors": "Ames RS, Sarau HM, Chambers JK, Willette RN, Aiyar NV, Romanic AM, Louden CS, Foley JJ, Sauermelch CF, Coatney RW, Ao Z, Disa J, Holmes SD, Stadel JM, Martin JD, Liu WS, Glover GI, Wilson S, McNulty DE, Ellis CE, Elshourbagy NA, Shabon U, Trill JJ, Hay DW, Ohlstein EH, Bergsma DJ, Douglas SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10499587", "url": "https://glygen.org/publication/PubMed/10499587" } ] }, { "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": "Ghrelin is a growth-hormone-releasing acylated peptide from stomach.", "journal": "Nature", "date": "1999", "authors": "Kojima M, Hosoda H, Date Y, Nakazato M, Matsuo H, Kangawa K", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10604470", "url": "https://glygen.org/publication/PubMed/10604470" } ] }, { "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": "Clinical pharmacokinetics of angiotensin II (AT1) receptor blockers in hypertension.", "journal": "Journal of human hypertension", "date": "2000", "authors": "Israili ZH", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10854085", "url": "https://glygen.org/publication/PubMed/10854085" } ] }, { "title": "Identification and characterization of two neuromedin U receptors differentially expressed in peripheral tissues and the central nervous system.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Raddatz R, Wilson AE, Artymyshyn R, Bonini JA, Borowsky B, Boteju LW, Zhou S, Kouranova EV, Nagorny R, Guevarra MS, Dai M, Lerman GS, Vaysse PJ, Branchek TA, Gerald C, Forray C, Adham N", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "10899166", "url": "https://glygen.org/publication/PubMed/10899166" } ] }, { "title": "Src tyrosine kinase is a novel direct effector of G proteins.", "journal": "Cell", "date": "2000", "authors": "Ma YC, Huang J, Ali S, Lowry W, Huang XY", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "11007482", "url": "https://glygen.org/publication/PubMed/11007482" } ] }, { "title": "Growth hormone secretagogue receptor family members and ligands.", "journal": "Endocrine", "date": "2001", "authors": "Smith RG, Leonard R, Bailey AR, Palyha O, Feighner S, Tan C, Mckee KK, Pong SS, Griffin P, Howard A", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "11322507", "url": "https://glygen.org/publication/PubMed/11322507" } ] }, { "title": "Metastasis suppressor gene KiSS-1 encodes peptide ligand of a G-protein-coupled receptor.", "journal": "Nature", "date": "2001", "authors": "Ohtaki T, Shintani Y, Honda S, Matsumoto H, Hori A, Kanehashi K, Terao Y, Kumano S, Takatsu Y, Masuda Y, Ishibashi Y, Watanabe T, Asada M, Yamada T, Suenaga M, Kitada C, Usuki S, Kurokawa T, Onda H, Nishimura O, Fujino M", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "11385580", "url": "https://glygen.org/publication/PubMed/11385580" } ] }, { "title": "The metastasis suppressor gene KiSS-1 encodes kisspeptins, the natural ligands of the orphan G protein-coupled receptor GPR54.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kotani M, Detheux M, Vandenbogaerde A, Communi D, Vanderwinden JM, Le Poul E, Brezillon S, Tyldesley R, Suarez-Huerta N, Vandeput F, Blanpain C, Schiffmann SN, Vassart G, Parmentier M", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "11457843", "url": "https://glygen.org/publication/PubMed/11457843" } ] }, { "title": "Cloning and molecular characterization of the novel human melanin-concentrating hormone receptor MCH2.", "journal": "Molecular pharmacology", "date": "2001", "authors": "Rodriguez M, Beauverger P, Naime I, Rique H, Ouvry C, Souchaud S, Dromaint S, Nagel N, Suply T, Audinot V, Boutin JA, Galizzi JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "11562423", "url": "https://glygen.org/publication/PubMed/11562423" } ] }, { "title": "Pharmacology of AT1-receptor blockers.", "journal": "Blood pressure. Supplement", "date": "2001", "authors": "Unger T", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "11683476", "url": "https://glygen.org/publication/PubMed/11683476" } ] }, { "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 orphan receptor C5L2 has high affinity binding sites for complement fragments C5a and C5a des-Arg(74).", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Cain SA, Monk PN", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "11773063", "url": "https://glygen.org/publication/PubMed/11773063" } ] }, { "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": "Regulators of G-protein signalling as new central nervous system drug targets.", "journal": "Nature reviews. Drug discovery", "date": "2002", "authors": "Neubig RR, Siderovski DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "12120503", "url": "https://glygen.org/publication/PubMed/12120503" } ] }, { "title": "Molecular cloning and characterization of prokineticin receptors.", "journal": "Biochimica et biophysica acta", "date": "2002", "authors": "Soga T, Matsumoto Si, Oda T, Saito T, Hiyama H, Takasaki J, Kamohara M, Ohishi T, Matsushime H, Furuichi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "12427552", "url": "https://glygen.org/publication/PubMed/12427552" } ] }, { "title": "The chemoattractant receptor-like protein C5L2 binds the C3a des-Arg77/acylation-stimulating protein.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Kalant D, Cain SA, Maslowska M, Sniderman AD, Cianflone K, Monk PN", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "12540846", "url": "https://glygen.org/publication/PubMed/12540846" } ] }, { "title": "Characterization of a family of endogenous neuropeptide ligands for the G protein-coupled receptors GPR7 and GPR8.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Tanaka H, Yoshida T, Miyamoto N, Motoike T, Kurosu H, Shibata K, Yamanaka A, Williams SC, Richardson JA, Tsujino N, Garry MG, Lerner MR, King DS, O'Dowd BF, Sakurai T, Yanagisawa M", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "12719537", "url": "https://glygen.org/publication/PubMed/12719537" } ] }, { "title": "Molecular cloning of the human brain and gastric cholecystokinin receptor: structure, functional expression and chromosomal localization.", "journal": "Biochemical and biophysical research communications", "date": "1992", "authors": "Pisegna JR, de Weerth A, Huppi K, Wank SA", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "1280419", "url": "https://glygen.org/publication/PubMed/1280419" } ] }, { "title": "Formation of high affinity C5 convertase of the classical pathway of complement.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Rawal N, Pangburn MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-174577", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174577" } ], "reference": [ { "type": "PubMed", "id": "12878586", "url": "https://glygen.org/publication/PubMed/12878586" } ] }, { "title": "Structure-function analysis of the extracellular domains of the Duffy antigen/receptor for chemokines: characterization of antibody and chemokine binding sites.", "journal": "British journal of haematology", "date": "2003", "authors": "Tournamille C, Filipe A, Wasniowska K, Gane P, Lisowska E, Cartron JP, Colin Y, Le Van Kim C", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "12956774", "url": "https://glygen.org/publication/PubMed/12956774" } ] }, { "title": "Cloning and pharmacological characterization of a human bradykinin (BK-2) receptor.", "journal": "Biochemical and biophysical research communications", "date": "1992", "authors": "Hess JF, Borkowski JA, Young GS, Strader CD, Ransom RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "1314587", "url": "https://glygen.org/publication/PubMed/1314587" } ] }, { "title": "Cloning and functional expression of a human neuropeptide Y/peptide YY receptor of the Y1 type.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Larhammar D, Blomqvist AG, Yee F, Jazin E, Yoo H, Wahlested C", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "1317848", "url": "https://glygen.org/publication/PubMed/1317848" } ] }, { "title": "The cloning of a family of genes that encode the melanocortin receptors.", "journal": "Science (New York, N.Y.)", "date": "1992", "authors": "Mountjoy KG, Robbins LS, Mortrud MT, Cone RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "1325670", "url": "https://glygen.org/publication/PubMed/1325670" } ] }, { "title": "Somatostatin receptors, an expanding gene family: cloning and functional characterization of human SSTR3, a protein coupled to adenylyl cyclase.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1992", "authors": "Yamada Y, Reisine T, Law SF, Ihara Y, Kubota A, Kagimoto S, Seino M, Seino Y, Bell GI, Seino S", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "1337145", "url": "https://glygen.org/publication/PubMed/1337145" } ] }, { "title": "Cloning and functional characterization of a family of human and mouse somatostatin receptors expressed in brain, gastrointestinal tract, and kidney.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Yamada Y, Post SR, Wang K, Tager HS, Bell GI, Seino S", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "1346068", "url": "https://glygen.org/publication/PubMed/1346068" } ] }, { "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": "On the structure of human corticotropin (adrenocorticotropic hormone).", "journal": "The Journal of biological chemistry", "date": "1961", "authors": "LEE TH, LERNER AB, BUETTNER-JANUSCH V", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "14463577", "url": "https://glygen.org/publication/PubMed/14463577" } ] }, { "title": "Identification of urotensin II-related peptide as the urotensin II-immunoreactive molecule in the rat brain.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Sugo T, Murakami Y, Shimomura Y, Harada M, Abe M, Ishibashi Y, Kitada C, Miyajima N, Suzuki N, Mori M, Fujino M", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "14550283", "url": "https://glygen.org/publication/PubMed/14550283" } ] }, { "title": "The GPR54 gene as a regulator of puberty.", "journal": "The New England journal of medicine", "date": "2003", "authors": "Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS Jr, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF Jr, Aparicio SA, Colledge WH", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "14573733", "url": "https://glygen.org/publication/PubMed/14573733" } ] }, { "title": "Novel benzo[1,4]diazepin-2-one derivatives as endothelin receptor antagonists.", "journal": "Journal of medicinal chemistry", "date": "2004", "authors": "Bolli MH, Marfurt J, Grisostomi C, Boss C, Binkert C, Hess P, Treiber A, Thorin E, Morrison K, Buchmann S, Bur D, Ramuz H, Clozel M, Fischli W, Weller T", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "15139756", "url": "https://glygen.org/publication/PubMed/15139756" } ] }, { "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-174577", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174577" } ], "reference": [ { "type": "PubMed", "id": "15199963", "url": "https://glygen.org/publication/PubMed/15199963" } ] }, { "title": "C5 complement deficiency in a Spanish family. Molecular characterization of the double mutation responsible for the defect.", "journal": "Mol. Immunol.", "date": "2005", "authors": "Delgado-Cervi\u00f1o Eva, Font\u00e1n Gumersindo, L\u00f3pez-Trascasa Margarita", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "15488949", "url": "https://glygen.org/publication/PubMed/15488949" } ] }, { "title": "Identity of an estrogen membrane receptor coupled to a G protein in human breast cancer cells.", "journal": "Endocrinology", "date": "2005", "authors": "Thomas P, Pang Y, Filardo EJ, Dong J", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "15539556", "url": "https://glygen.org/publication/PubMed/15539556" } ] }, { "title": "Functional insights from the structure of the multifunctional C345C domain of C5 of complement.", "journal": "J. Biol. Chem.", "date": "2005", "authors": "Bramham Janice, Thai Chuong-Thu, Soares Dinesh C, Uhr\u00edn Dusan, Ogata Ronald T, Barlow Paul N", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "15598652", "url": "https://glygen.org/publication/PubMed/15598652" } ] }, { "title": "Cloning and characterization of a human angiotensin II type 1 receptor.", "journal": "Biochemical and biophysical research communications", "date": "1992", "authors": "Bergsma DJ, Ellis C, Kumar C, Nuthulaganti P, Kersten H, Elshourbagy N, Griffin E, Stadel JM, Aiyar N", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "1567413", "url": "https://glygen.org/publication/PubMed/1567413" } ] }, { "title": "Linking C5 deficiency to an exonic splicing enhancer mutation.", "journal": "J. Immunol.", "date": "2005", "authors": "Pfarr Nicole, Prawitt Dirk, Kirschfink Michael, Schroff Claudia, Knuf Markus, Habermehl Pirmin, Mannhardt Wilma, Zepp Fred, Fairbrother William G, Fairbrother William, Loos Michael, Burge Christopher B, Pohlenz Joachim", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "15778377", "url": "https://glygen.org/publication/PubMed/15778377" } ] }, { "title": "Characterization of GPRA, a novel G protein-coupled receptor related to asthma.", "journal": "American journal of respiratory cell and molecular biology", "date": "2005", "authors": "Vendelin J, Pulkkinen V, Rehn M, Pirskanen A, Raisanen-Sokolowski A, Laitinen A, Laitinen LA, Kere J, Laitinen T", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "15947423", "url": "https://glygen.org/publication/PubMed/15947423" } ] }, { "title": "The GAPs, GEFs, and GDIs of heterotrimeric G-protein alpha subunits.", "journal": "International journal of biological sciences", "date": "2005", "authors": "Siderovski DP, Willard FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "15951850", "url": "https://glygen.org/publication/PubMed/15951850" } ] }, { "title": "Complement factor 5 is a quantitative trait gene that modifies liver fibrogenesis in mice and humans.", "journal": "Nat. Genet.", "date": "2005", "authors": "Hillebrandt Sonja, Wasmuth Hermann E, Weiskirchen Ralf, Hellerbrand Claus, Keppeler Hildegard, Werth Alexa, Schirin-Sokhan Ramin, Wilkens Gabriele, Geier Andreas, Lorenzen Johann, K\u00f6hl J\u00f6rg, Gressner Axel M, Matern Siegfried, Lammert Frank", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "15995705", "url": "https://glygen.org/publication/PubMed/15995705" } ] }, { "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": "P01031", "url": "https://www.uniprot.org/uniprot/P01031#ptm_processing" }, { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "title": "Two distinct bombesin receptor subtypes are expressed and functional in human lung carcinoma cells.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Corjay MH, Dobrzanski DJ, Way JM, Viallet J, Shapira H, Worland P, Sausville EA, Battey JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "1655761", "url": "https://glygen.org/publication/PubMed/1655761" } ] }, { "title": "The vertebrate phototransduction cascade: amplification and termination mechanisms.", "journal": "Reviews of physiology, biochemistry and pharmacology", "date": "2005", "authors": "Chen CK", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "16634148", "url": "https://glygen.org/publication/PubMed/16634148" } ] }, { "title": "Structural basis of function in heterotrimeric G proteins.", "journal": "Quarterly reviews of biophysics", "date": "2006", "authors": "Oldham WM, Hamm HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "16923326", "url": "https://glygen.org/publication/PubMed/16923326" } ] }, { "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": "Cloning and sequence analysis of a cDNA encoding human non-selective type of endothelin receptor.", "journal": "Biochemical and biophysical research communications", "date": "1991", "authors": "Nakamuta M, Takayanagi R, Sakai Y, Sakamoto S, Hagiwara H, Mizuno T, Saito Y, Hirose S, Yamamoto M, Nawata H", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "1710450", "url": "https://glygen.org/publication/PubMed/1710450" } ] }, { "title": "Human galanin: primary structure and identification of two molecular forms.", "journal": "FEBS letters", "date": "1991", "authors": "Bersani M, Johnsen AH, Hojrup P, Dunning BE, Andreasen JJ, Holst JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "1710578", "url": "https://glygen.org/publication/PubMed/1710578" } ] }, { "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": "Cloning and characterization of cDNA encoding human A-type endothelin receptor.", "journal": "Biochemical and biophysical research communications", "date": "1991", "authors": "Adachi M, Yang YY, Furuichi Y, Miyamoto C", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "1719979", "url": "https://glygen.org/publication/PubMed/1719979" } ] }, { "title": "Isolation and primary structure of pituitary human galanin, a 30-residue nonamidated neuropeptide.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Schmidt WE, Kratzin H, Eckart K, Drevs D, Mundkowski G, Clemens A, Katsoulis S, Schafer H, Gallwitz B, Creutzfeldt W", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "1722333", "url": "https://glygen.org/publication/PubMed/1722333" } ] }, { "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": "Discovery and development of the complement inhibitor eculizumab for the treatment of paroxysmal nocturnal hemoglobinuria.", "journal": "Nature biotechnology", "date": "2007", "authors": "Rother RP, Rollins SA, Mojcik CF, Brodsky RA, Bell L", "evidence": [ { "database": "Reactome", "id": "R-HSA-174577", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174577" } ], "reference": [ { "type": "PubMed", "id": "17989688", "url": "https://glygen.org/publication/PubMed/17989688" } ] }, { "title": "Bradykinin, a hypotensive and smooth muscle stimulating factor released from plasma globulin by snake venoms and by trypsin.", "journal": "The American journal of physiology", "date": "1949", "authors": "ROCHA E SILVA M, BERALDO WT, ROSENFELD G", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "18127230", "url": "https://glygen.org/publication/PubMed/18127230" } ] }, { "title": "Structural diversity in the RGS domain and its interaction with heterotrimeric G protein alpha-subunits.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Soundararajan M, Willard FS, Kimple AJ, Turnbull AP, Ball LJ, Schoch GA, Gileadi C, Fedorov OY, Dowler EF, Higman VA, Hutsell SQ, Sundstrom M, Doyle DA, Siderovski DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "18434541", "url": "https://glygen.org/publication/PubMed/18434541" } ] }, { "title": "The chemotactic receptor for human C5a anaphylatoxin.", "journal": "Nature", "date": "1991", "authors": "Gerard NP, Gerard C", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "1847994", "url": "https://glygen.org/publication/PubMed/1847994" } ] }, { "title": "Structure of and influence of a tick complement inhibitor on human complement component 5.", "journal": "Nature immunology", "date": "2008", "authors": "Fredslund F, Laursen NS, Roversi P, Jenner L, Oliveira CL, Pedersen JS, Nunn MA, Lea SM, Discipio R, Sottrup-Jensen L, Andersen GR", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031#ptm_processing" }, { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "18536718", "url": "https://glygen.org/publication/PubMed/18536718" } ] }, { "title": "Dissociation of heterotrimeric g proteins in cells.", "journal": "Science signaling", "date": "2008", "authors": "Lambert NA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "18577758", "url": "https://glygen.org/publication/PubMed/18577758" } ] }, { "title": "Complete cDNA sequence of human complement pro-C5. Evidence of truncated transcripts derived from a single copy gene.", "journal": "J. Immunol.", "date": "1991", "authors": "Haviland DL, Haviland JC, Fleischer DT, Hunt A, Wetsel RA", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "1984448", "url": "https://glygen.org/publication/PubMed/1984448" } ] }, { "title": "Group B streptococci inactivate complement component C5a by enzymic cleavage at the C-terminus.", "journal": "Biochem. J.", "date": "1991", "authors": "Bohnsack J F, Mollison K W, Buko A M, Ashworth J C, Hill H R", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "1996961", "url": "https://glygen.org/publication/PubMed/1996961" } ] }, { "title": "Structural basis for inhibition of complement C5 by the SSL7 protein from Staphylococcus aureus.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2010", "authors": "Laursen Nick S, Gordon Natasha, Hermans Stefan, Lorenz Natalie, Jackson Nicola, Wines Bruce, Spillner Edzard, Christensen Jesper B, Jensen Morten, Fredslund Folmer, Bjerre Mette, Sottrup-Jensen Lars, Fraser John D, Andersen Gregers R", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "20133685", "url": "https://glygen.org/publication/PubMed/20133685" } ] }, { "title": "Substrate recognition by complement convertases revealed in the C5-cobra venom factor complex.", "journal": "The EMBO journal", "date": "2011", "authors": "Laursen NS, Andersen KR, Braren I, Spillner E, Sottrup-Jensen L, Andersen GR", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031#ptm_processing" }, { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "21217642", "url": "https://glygen.org/publication/PubMed/21217642" } ] }, { "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": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "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": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Dimerization of complement factor H-related proteins modulates complement activation in vivo.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Goicoechea de Jorge E, Caesar JJ, Malik TH, Patel M, Colledge M, Johnson S, Hakobyan S, Morgan BP, Harris CL, Pickering MC, Lea SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "23487775", "url": "https://glygen.org/publication/PubMed/23487775" } ] }, { "title": "GPR37 and GPR37L1 are receptors for the neuroprotective and glioprotective factors prosaptide and prosaposin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Meyer RC, Giddens MM, Schaefer SA, Hall RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "23690594", "url": "https://glygen.org/publication/PubMed/23690594" } ] }, { "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": "Genetic variants in C5 and poor response to eculizumab.", "journal": "The New England journal of medicine", "date": "2014", "authors": "Nishimura J, Yamamoto M, Hayashi S, Ohyashiki K, Ando K, Brodsky AL, Noji H, Kitamura K, Eto T, Takahashi T, Masuko M, Matsumoto T, Wano Y, Shichishima T, Shibayama H, Hase M, Li L, Johnson K, Lazarowski A, Tamburini P, Inazawa J, Kinoshita T, Kanakura Y", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "24521109", "url": "https://glygen.org/publication/PubMed/24521109" } ] }, { "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": "Pharmacokinetic-pharmacodynamic relationships of macitentan, a new endothelin receptor antagonist, after multiple dosing in healthy Korean subjects.", "journal": "American journal of cardiovascular drugs : drugs, devices, and other interventions", "date": "2014", "authors": "Ahn LY, Kim SE, Yi S, Dingemanse J, Lim KS, Jang IJ, Yu KS", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "24906252", "url": "https://glygen.org/publication/PubMed/24906252" } ] }, { "title": "Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina.", "journal": "Neuron", "date": "1989", "authors": "Lerea CL, Bunt-Milam AH, Hurley JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "2534964", "url": "https://glygen.org/publication/PubMed/2534964" } ] }, { "title": "Isolation and sequence analysis of a cDNA clone encoding the fifth complement component.", "journal": "J. Biol. Chem.", "date": "1985", "authors": "Lundwall A B, Wetsel R A, Kristensen T, Whitehead A S, Woods D E, Ogden R C, Colten H R, Tack B F", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "2579066", "url": "https://glygen.org/publication/PubMed/2579066" } ] }, { "title": "The human endothelin family: three structurally and pharmacologically distinct isopeptides predicted by three separate genes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989", "authors": "Inoue A, Yanagisawa M, Kimura S, Kasuya Y, Miyauchi T, Goto K, Masaki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "2649896", "url": "https://glygen.org/publication/PubMed/2649896" } ] }, { "title": "Structural basis for therapeutic inhibition of complement C5.", "journal": "Nat. Struct. Mol. Biol.", "date": "2016", "authors": "Jore Matthijs M, Johnson Steven, Sheppard Devon, Barber Natalie M, Li Yang I, Nunn Miles A, Elmlund Hans, Lea Susan M", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "27018802", "url": "https://glygen.org/publication/PubMed/27018802" } ] }, { "title": "Heteronuclear three-dimensional NMR spectroscopy of the inflammatory protein C5a.", "journal": "Biochemistry", "date": "1989", "authors": "Zuiderweg E R, Fesik S W", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "2730871", "url": "https://glygen.org/publication/PubMed/2730871" } ] }, { "title": "Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye.", "journal": "Nucleic acids research", "date": "1989", "authors": "Van Dop C, Medynski DC, Apone LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "2748346", "url": "https://glygen.org/publication/PubMed/2748346" } ] }, { "title": "Preparation and preliminary characterization of recombinant neurolysin for in vivo studies.", "journal": "Journal of biotechnology", "date": "2016", "authors": "Wangler NJ, Jayaraman S, Zhu R, Mechref Y, Abbruscato TJ, Bickel U, Karamyan VT", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "27496565", "url": "https://glygen.org/publication/PubMed/27496565" } ] }, { "title": "Tertiary structure of human complement component C5a in solution from nuclear magnetic resonance data.", "journal": "Biochemistry", "date": "1989", "authors": "Zuiderweg E R, Nettesheim D G, Mollison K W, Carter G W", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "2784981", "url": "https://glygen.org/publication/PubMed/2784981" } ] }, { "title": "Presence of three distinct molecular species of Gi protein alpha subunit. Structure of rat cDNAs and human genomic DNAs.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Itoh H, Toyama R, Kozasa T, Tsukamoto T, Matsuoka M, Kaziro Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "2834384", "url": "https://glygen.org/publication/PubMed/2834384" } ] }, { "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": "1147", "url": "https://glyconnect.expasy.org/browser/proteins/1147" } ], "reference": [ { "type": "PubMed", "id": "29391424", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "title": "A novel multiplex detection array revealed systemic complement activation in oral squamous cell carcinoma.", "journal": "Oncotarget", "date": "2018", "authors": "Gallenkamp J, Spanier G, Worle E, Englbrecht M, Kirschfink M, Greslechner R, Braun R, Schafer N, Bauer RJ, Pauly D", "evidence": [ { "database": "GlyGen", "id": "A0140", "url": "https://data.glygen.org/GLY_000625" } ], "reference": [ { "type": "PubMed", "id": "29423024", "url": "https://glygen.org/publication/PubMed/29423024" } ] }, { "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": "Design and preclinical characterization of ALXN1210: A novel anti-C5 antibody with extended duration of action.", "journal": "PloS one", "date": "2018", "authors": "Sheridan D, Yu ZX, Zhang Y, Patel R, Sun F, Lasaro MA, Bouchard K, Andrien B, Marozsan A, Wang Y, Tamburini P", "evidence": [ { "database": "Reactome", "id": "R-HSA-174577", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174577" } ], "reference": [ { "type": "PubMed", "id": "29649283", "url": "https://glygen.org/publication/PubMed/29649283" } ] }, { "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": "P01031", "url": "" }, { "database": "GlyConnect", "id": "1147", "url": "https://glyconnect.expasy.org/browser/proteins/1147" } ], "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": "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": "Molecular organization and function of the complement system.", "journal": "Annual review of biochemistry", "date": "1988", "authors": "Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-166665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166665" } ], "reference": [ { "type": "PubMed", "id": "3052276", "url": "https://glygen.org/publication/PubMed/3052276" } ] }, { "title": "An inhibitor of complement C5 provides structural insights into activation.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2020", "authors": "Reichhardt Martin P, Johnson Steven, Tang Terence, Morgan Thomas, Tebeka Nchimunya, Popitsch Niko, Deme Justin C, Jore Matthijs M, Lea Susan M", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "31871188", "url": "https://glygen.org/publication/PubMed/31871188" } ] }, { "title": "Isolation and primary structure of human peptide YY.", "journal": "Biochemical and biophysical research communications", "date": "1988", "authors": "Tatemoto K, Nakano I, Makk G, Angwin P, Mann M, Schilling J, Go VL", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "3202875", "url": "https://glygen.org/publication/PubMed/3202875" } ] }, { "title": "Clinical Effects of the Self-administered Subcutaneous Complement Inhibitor Zilucoplan in Patients With Moderate to Severe Generalized Myasthenia Gravis: Results of a Phase 2 Randomized, Double-Blind, Placebo-Controlled, Multicenter Clinical Trial.", "journal": "JAMA neurology", "date": "2020", "authors": "Howard JF Jr, Nowak RJ, Wolfe GI, Freimer ML, Vu TH, Hinton JL, Benatar M, Duda PW, MacDougall JE, Farzaneh-Far R, Kaminski HJ, Barohn R, Dimachkie M, Pasnoor M, Farmakidis C, Liu T, Colgan S, Benatar MG, Bertorini T, Pillai R, Henegar R, Bromberg M, Gibson S, Janecki T, Freimer M, Elsheikh B, Matisak P, Genge A, Guidon A, David W, Habib AA, Mathew V, Mozaffar T, Hinton JL, Hewitt W, Barnett D, Sullivan P, Ho D, Howard JF Jr, Traub RE, Chopra M, Kaminski HJ, Aly R, Bayat E, Abu-Rub M, Khan S, Lange D, Holzberg S, Khatri B, Lindman E, Olapo T, Sershon LM, Lisak RP, Bernitsas E, Jia K, Malik R, Lewis-Collins TD, Nicolle M, Nowak RJ, Sharma A, Roy B, Nye J, Pulley M, Berger A, Shabbir Y, Sachdev A, Patterson K, Siddiqi Z, Sivak M, Bratton J, Small G, Kohli A, Fetter M, Vu T, Lam L, Harvey B, Wolfe GI, Silvestri N, Patrick K, Zakalik K, Duda PW, MacDougall J, Farzaneh-Far R, Pontius A, Hoarty M", "evidence": [ { "database": "Reactome", "id": "R-HSA-174577", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174577" } ], "reference": [ { "type": "PubMed", "id": "32065623", "url": "https://glygen.org/publication/PubMed/32065623" } ] }, { "title": "Temporal changes in complement activation in haemodialysis patients with COVID-19 as a predictor of disease progression.", "journal": "Clinical kidney journal", "date": "2020-10", "authors": "Prendecki Maria, Clarke Candice, Medjeral-Thomas Nicholas, McAdoo Stephen P, Sandhu Eleanor, Peters James E, Thomas David C, Willicombe Michelle, Botto Marina, Pickering Matthew C", "evidence": [ { "database": "GlyGen", "id": "A0140", "url": "https://data.glygen.org/GLY_000625" } ], "reference": [ { "type": "PubMed", "id": "33123364", "url": "https://glygen.org/publication/PubMed/33123364" } ] }, { "title": "Molecular analysis of human complement component C5: localization of the structural gene to chromosome 9.", "journal": "Biochemistry", "date": "1988", "authors": "Wetsel R A, Lemons R S, Le Beau M M, Barnum S R, Noack D, Tack B F", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "3365401", "url": "https://glygen.org/publication/PubMed/3365401" } ] }, { "title": "Isolation and identification of hydroxyproline analogues of bradykinin in human urine.", "journal": "FEBS letters", "date": "1988", "authors": "Kato H, Matsumura Y, Maeda H", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "3366244", "url": "https://glygen.org/publication/PubMed/3366244" } ] }, { "title": "Sequence-specific assignments in the 1H NMR spectrum of the human inflammatory protein C5a.", "journal": "Biochemistry", "date": "1988", "authors": "Zuiderweg E R, Mollison K W, Henkin J, Carter G W", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "3408713", "url": "https://glygen.org/publication/PubMed/3408713" } ] }, { "title": "Purification and characterization of a novel neurotensin-degrading peptidase from rat brain synaptic membranes.", "journal": "The Journal of biological chemistry", "date": "1986", "authors": "Checler F, Vincent JP, Kitabgi P", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "3525564", "url": "https://glygen.org/publication/PubMed/3525564" } ] }, { "title": "C5a elevation in convalescents from severe COVID-19 is not associated with early complement activation markers C3bBbP or C4d.", "journal": "Frontiers in immunology", "date": "2022", "authors": "Kowalska D, Kuzniewska A, Senent Y, Tavira B, Inoges S, Lopez-Diaz de Cerio A, Pio R, Okroj M, Yuste JR", "evidence": [ { "database": "RefSeq", "id": "NP_001304092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304092" } ], "reference": [ { "type": "PubMed", "id": "36091057", "url": "https://glygen.org/publication/PubMed/36091057" } ] }, { "title": "Dual inhibition of complement C5 and CD14 attenuates inflammation in a cord blood model.", "journal": "Pediatric research", "date": "2023-08", "authors": "Bjerkhaug Aline U, Granslo Hildegunn N, Cavanagh Jorunn Pauline, H\u00f8iland Ina, Ludviksen Judith Krey, Lau Corinna, Espevik Terje, Mollnes Tom Eirik, Klingenberg Claus", "evidence": [ { "database": "RefSeq", "id": "NP_001304092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304092" } ], "reference": [ { "type": "PubMed", "id": "36725909", "url": "https://glygen.org/publication/PubMed/36725909" } ] }, { "title": "A Transcriptome Array-Based Approach to Link SGLT-2 and Intrarenal Complement C5 Synthesis in Diabetic Nephropathy.", "journal": "International journal of molecular sciences", "date": "2023-12-02", "authors": "Korsten Peter, Tampe Bj\u00f6rn", "evidence": [ { "database": "RefSeq", "id": "NP_001304092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304092" } ], "reference": [ { "type": "PubMed", "id": "38069385", "url": "https://glygen.org/publication/PubMed/38069385" } ] }, { "title": "Differential contributions of the C5b-9 and C5a/C5aR pathways to microvascular and macrovascular thrombosis in complement-mediated thrombotic microangiopathy patients.", "journal": "Clinical immunology (Orlando, Fla.)", "date": "2023-12-13", "authors": "Liu Xiaotian, Hu Yifang, Yu Xiaojuan, Tan Ying, Yu Feng, Chen Min, Zhao Minghui", "evidence": [ { "database": "RefSeq", "id": "NP_001304092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304092" } ], "reference": [ { "type": "PubMed", "id": "38101498", "url": "https://glygen.org/publication/PubMed/38101498" } ] }, { "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": "Molecular cloning of the human cholecystokinin gene by use of a synthetic probe containing deoxyinosine.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1985", "authors": "Takahashi Y, Kato K, Hayashizaki Y, Wakabayashi T, Ohtsuka E, Matsuki S, Ikehara M, Matsubara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "3856870", "url": "https://glygen.org/publication/PubMed/3856870" } ] }, { "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": "Molecular organization of C9 within the membrane attack complex of complement. Induction of circular C9 polymerization by the C5b-8 assembly.", "journal": "The Journal of experimental medicine", "date": "1982", "authors": "Podack ER, Tschoop J, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-166665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166665" } ], "reference": [ { "type": "PubMed", "id": "6177822", "url": "https://glygen.org/publication/PubMed/6177822" } ] }, { "title": "Generation of three different fragments of bound C3 with purified factor I or serum. I. Requirements for factor H vs CR1 cofactor activity.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1982", "authors": "Ross GD, Lambris JD, Cain JA, Newman SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6214588", "url": "https://glygen.org/publication/PubMed/6214588" } ] }, { "title": "Kinetic and thermodynamic analysis of the control of C3b by the complement regulatory proteins factors H and I.", "journal": "Biochemistry", "date": "1983", "authors": "Pangburn MK, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6219696", "url": "https://glygen.org/publication/PubMed/6219696" } ] }, { "title": "Visualization of human C4b-binding protein and its complexes with vitamin K-dependent protein S and complement protein C4b.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1983", "authors": "Dahlback B, Smith CA, Muller-Eberhard HJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6222381", "url": "https://glygen.org/publication/PubMed/6222381" } ] }, { "title": "Identification of a 145,000 Mr membrane protein as the C3d receptor (CR2) of human B lymphocytes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1984", "authors": "Weis JJ, Tedder TF, Fearon DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6230668", "url": "https://glygen.org/publication/PubMed/6230668" } ] }, { "title": "Inhibition of complement activation on the surface of cells after incorporation of decay-accelerating factor (DAF) into their membranes.", "journal": "The Journal of experimental medicine", "date": "1984", "authors": "Medof ME, Kinoshita T, Nussenzweig V", "evidence": [ { "database": "Reactome", "id": "R-HSA-977606", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-977606" } ], "reference": [ { "type": "PubMed", "id": "6238120", "url": "https://glygen.org/publication/PubMed/6238120" } ] }, { "title": "Isolation and structural organization of the human corticotropin--beta-lipotropin precursor gene.", "journal": "FEBS letters", "date": "1981", "authors": "Takahashi H, Teranishi Y, Nakanishi S, Numa S", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "6274691", "url": "https://glygen.org/publication/PubMed/6274691" } ] }, { "title": "Isolation and structural organization of the human preproenkephalin gene.", "journal": "Nature", "date": "1982", "authors": "Noda M, Teranishi Y, Takahashi H, Toyosato M, Notake M, Nakanishi S, Numa S", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "6281660", "url": "https://glygen.org/publication/PubMed/6281660" } ] }, { "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": "A cDNA encoding a small common precursor for human pancreatic polypeptide and pancreatic icosapeptide.", "journal": "The EMBO journal", "date": "1984", "authors": "Boel E, Schwartz TW, Norris KE, Fiil NP", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "6373251", "url": "https://glygen.org/publication/PubMed/6373251" } ] }, { "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": "Cloning, characterization, and DNA sequence of a human cDNA encoding neuropeptide tyrosine.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1984", "authors": "Minth CD, Bloom SR, Polak JM, Dixon JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "6589611", "url": "https://glygen.org/publication/PubMed/6589611" } ] }, { "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": "Primary structural analysis of the polypeptide portion of human C5a anaphylatoxin. Polypeptide sequence determination and assignment of the oligosaccharide attachment site in C5a.", "journal": "J. Biol. Chem.", "date": "1978", "authors": "Fernandez H N, Hugli T E", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "690134", "url": "https://glygen.org/publication/PubMed/690134" } ] }, { "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": "Primary structure of the human Met- and Leu-enkephalin precursor and its mRNA.", "journal": "Nature", "date": "1982", "authors": "Comb M, Seeburg PH, Adelman J, Eiden L, Herbert E", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "7057924", "url": "https://glygen.org/publication/PubMed/7057924" } ] }, { "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": "Molecular cloning of a functional human galanin receptor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Habert-Ortoli E, Amiranoff B, Loquet I, Laburthe M, Mayaux JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "7524088", "url": "https://glygen.org/publication/PubMed/7524088" } ] }, { "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": "The cloning and chromosomal mapping of two novel human opioid-somatostatin-like receptor genes, GPR7 and GPR8, expressed in discrete areas of the brain.", "journal": "Genomics", "date": "1995", "authors": "O'Dowd BF, Scheideler MA, Nguyen T, Cheng R, Rasmussen JS, Marchese A, Zastawny R, Heng HH, Tsui LC, Shi X, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "7590751", "url": "https://glygen.org/publication/PubMed/7590751" } ] }, { "title": "Expression cloning and pharmacological characterization of a human hippocampal neuropeptide Y/peptide YY Y2 receptor subtype.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Gerald C, Walker MW, Vaysse PJ, He C, Branchek TA, Weinshank RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "7592910", "url": "https://glygen.org/publication/PubMed/7592910" } ] }, { "title": "Cloning and functional expression of a human Y4 subtype receptor for pancreatic polypeptide, neuropeptide Y, and peptide YY.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Bard JA, Walker MW, Branchek TA, Weinshank RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "7592911", "url": "https://glygen.org/publication/PubMed/7592911" } ] }, { "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": "kappa-Opioid receptor in humans: cDNA and genomic cloning, chromosomal assignment, functional expression, pharmacology, and expression pattern in the central nervous system.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Simonin F, Gaveriaux-Ruff C, Befort K, Matthes H, Lannes B, Micheletti G, Mattei MG, Charron G, Bloch B, Kieffer B", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "7624359", "url": "https://glygen.org/publication/PubMed/7624359" } ] }, { "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": "Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.", "journal": "J. Immunol.", "date": "1995", "authors": "Wang X, Fleischer D T, Whitehead W T, Haviland D L, Rosenfeld S I, Leddy J P, Snyderman R, Wetsel R A", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "7730648", "url": "https://glygen.org/publication/PubMed/7730648" } ] }, { "title": "Endothelin-converting enzyme-2 is a membrane-bound, phosphoramidon-sensitive metalloprotease with acidic pH optimum.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Emoto N, Yanagisawa M", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "7797512", "url": "https://glygen.org/publication/PubMed/7797512" } ] }, { "title": "Human mu opiate receptor. cDNA and genomic clones, pharmacologic characterization and chromosomal assignment.", "journal": "FEBS letters", "date": "1994", "authors": "Wang JB, Johnson PS, Persico AM, Hawkins AL, Griffin CA, Uhl GR", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "7905839", "url": "https://glygen.org/publication/PubMed/7905839" } ] }, { "title": "Mechanism of GTP hydrolysis by G-protein alpha subunits.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Kleuss C, Raw AS, Lee E, Sprang SR, Gilman AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "7937899", "url": "https://glygen.org/publication/PubMed/7937899" } ] }, { "title": "Human taste cells express the G protein alpha-gustducin and neuron-specific enolase.", "journal": "Brain research. Molecular brain research", "date": "1994", "authors": "Takami S, Getchell TV, McLaughlin SK, Margolskee RF, Getchell ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "8015379", "url": "https://glygen.org/publication/PubMed/8015379" } ] }, { "title": "Pharmacological characterization of bosentan, a new potent orally active nonpeptide endothelin receptor antagonist.", "journal": "The Journal of pharmacology and experimental therapeutics", "date": "1994", "authors": "Clozel M, Breu V, Gray GA, Kalina B, Loffler BM, Burri K, Cassal JM, Hirth G, Muller M, Neidhart W, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8035319", "url": "https://glygen.org/publication/PubMed/8035319" } ] }, { "title": "ECE-1: a membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1.", "journal": "Cell", "date": "1994", "authors": "Xu D, Emoto N, Giaid A, Slaughter C, Kaw S, deWit D, Yanagisawa M", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8062389", "url": "https://glygen.org/publication/PubMed/8062389" } ] }, { "title": "Expression cloning of a human B1 bradykinin receptor.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Menke JG, Borkowski JA, Bierilo KK, MacNeil T, Derrick AW, Schneck KA, Ransom RW, Strader CD, Linemeyer DL, Hess JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8063797", "url": "https://glygen.org/publication/PubMed/8063797" } ] }, { "title": "The amino terminus of the human C5a receptor is required for high affinity C5a binding and for receptor activation by C5a but not C5a analogs.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "DeMartino JA, Van Riper G, Siciliano SJ, Molineaux CJ, Konteatis ZD, Rosen H, Springer MS", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "8182049", "url": "https://glygen.org/publication/PubMed/8182049" } ] }, { "title": "Molecular cloning and expression of the gene encoding human angiotensin II type 2 receptor.", "journal": "Biochemical and biophysical research communications", "date": "1994", "authors": "Tsuzuki S, Ichiki T, Nakakubo H, Kitami Y, Guo DF, Shirai H, Inagami T", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8185599", "url": "https://glygen.org/publication/PubMed/8185599" } ] }, { "title": "Identification of a human delta opioid receptor: cloning and expression.", "journal": "Life sciences", "date": "1994", "authors": "Knapp RJ, Malatynska E, Fang L, Li X, Babin E, Nguyen M, Santoro G, Varga EV, Hruby VJ, Roeske WR, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8201839", "url": "https://glygen.org/publication/PubMed/8201839" } ] }, { "title": "Cloning of glycoprotein D cDNA, which encodes the major subunit of the Duffy blood group system and the receptor for the Plasmodium vivax malaria parasite.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1993", "authors": "Chaudhuri A, Polyakova J, Zbrzezna V, Williams K, Gulati S, Pogo AO", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8248172", "url": "https://glygen.org/publication/PubMed/8248172" } ] }, { "title": "A human gene that shows identity with the gene encoding the angiotensin receptor is located on chromosome 11.", "journal": "Gene", "date": "1993", "authors": "O'Dowd BF, Heiber M, Chan A, Heng HH, Tsui LC, Kennedy JL, Shi X, Petronis A, George SR, Nguyen T", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8294032", "url": "https://glygen.org/publication/PubMed/8294032" } ] }, { "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": "Cloning, functional expression and pharmacological characterization of a fourth (hSSTR4) and a fifth (hSSTR5) human somatostatin receptor subtype.", "journal": "Biochemical and biophysical research communications", "date": "1993", "authors": "Yamada Y, Kagimoto S, Kubota A, Yasuda K, Masuda K, Someya Y, Ihara Y, Li Q, Imura H, Seino S, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8373420", "url": "https://glygen.org/publication/PubMed/8373420" } ] }, { "title": "Cloning and expression of a complementary DNA encoding a high affinity human neurotensin receptor.", "journal": "FEBS letters", "date": "1993", "authors": "Vita N, Laurent P, Lefort S, Chalon P, Dumont X, Kaghad M, Gully D, Le Fur G, Ferrara P, Caput D", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8381365", "url": "https://glygen.org/publication/PubMed/8381365" } ] }, { "title": "BRS-3: a novel bombesin receptor subtype selectively expressed in testis and lung carcinoma cells.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Fathi Z, Corjay MH, Shapira H, Wada E, Benya R, Jensen R, Viallet J, Sausville EA, Battey JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8383682", "url": "https://glygen.org/publication/PubMed/8383682" } ] }, { "title": "Molecular cloning of a functional human thyrotropin-releasing hormone receptor.", "journal": "Biochemical and biophysical research communications", "date": "1993", "authors": "Matre V, Karlsen HE, Wright MS, Lundell I, Fjeldheim AK, Gabrielsen OS, Larhammar D, Gautvik KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8395824", "url": "https://glygen.org/publication/PubMed/8395824" } ] }, { "title": "Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2).", "journal": "Genomics", "date": "1993", "authors": "Morris TA, Fong SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "8406495", "url": "https://glygen.org/publication/PubMed/8406495" } ] }, { "title": "Molecular characterization and regulation of the human endothelin receptors.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Elshourbagy NA, Korman DR, Wu HL, Sylvester DR, Lee JA, Nuthalaganti P, Bergsma DJ, Kumar CS, Nambi P", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8440682", "url": "https://glygen.org/publication/PubMed/8440682" } ] }, { "title": "Molecular cloning of a novel melanocortin receptor.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Gantz I, Konda Y, Tashiro T, Shimoto Y, Miwa H, Munzert G, Watson SJ, DelValle J, Yamada T", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8463333", "url": "https://glygen.org/publication/PubMed/8463333" } ] }, { "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": "Molecular cloning and functional expression of the human gallbladder cholecystokinin A receptor.", "journal": "Biochemical and biophysical research communications", "date": "1993", "authors": "Ulrich CD, Ferber I, Holicky E, Hadac E, Buell G, Miller LJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8503909", "url": "https://glygen.org/publication/PubMed/8503909" } ] }, { "title": "Molecular cloning, expression and potential functions of the human proteinase-activated receptor-2.", "journal": "The Biochemical journal", "date": "1996", "authors": "Bohm SK, Kong W, Bromme D, Smeekens SP, Anderson DC, Connolly A, Kahn M, Nelken NA, Coughlin SR, Payan DG, Bunnett NW", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8615752", "url": "https://glygen.org/publication/PubMed/8615752" } ] }, { "title": "Cloning and chromosomal mapping of three novel genes, GPR9, GPR10, and GPR14, encoding receptors related to interleukin 8, neuropeptide Y, and somatostatin receptors.", "journal": "Genomics", "date": "1995", "authors": "Marchese A, Heiber M, Nguyen T, Heng HH, Saldivia VR, Cheng R, Murphy PM, Tsui LC, Shi X, Gregor P, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8666380", "url": "https://glygen.org/publication/PubMed/8666380" } ] }, { "title": "Molecular cloning and characterization of the human anaphylatoxin C3a receptor.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Ames RS, Li Y, Sarau HM, Nuthulaganti P, Foley JJ, Ellis C, Zeng Z, Su K, Jurewicz AJ, Hertzberg RP, Bergsma DJ, Kumar C", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8702752", "url": "https://glygen.org/publication/PubMed/8702752" } ] }, { "title": "Primary structure of human prethrombin 2 and alpha-thrombin.", "journal": "The Journal of biological chemistry", "date": "1977", "authors": "Butkowski RJ, Elion J, Downing MR, Mann KG", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "873923", "url": "https://glygen.org/publication/PubMed/873923" } ] }, { "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": "Pharmacokinetics and pharmacodynamics of the endothelin-receptor antagonist bosentan in healthy human subjects.", "journal": "Clinical pharmacology and therapeutics", "date": "1996", "authors": "Weber C, Schmitt R, Birnboeck H, Hopfgartner G, van Marle SP, Peeters PA, Jonkman JH, Jones CR", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "8823230", "url": "https://glygen.org/publication/PubMed/8823230" } ] }, { "title": "Solution structure of a unique C5a semi-synthetic antagonist: implications in receptor binding.", "journal": "Protein Sci.", "date": "1997", "authors": "Zhang X, Boyar W, Galakatos N, Gonnella N C", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "9007977", "url": "https://glygen.org/publication/PubMed/9007977" } ] }, { "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": "Discovery of TBC11251, a potent, long acting, orally active endothelin receptor-A selective antagonist.", "journal": "Journal of medicinal chemistry", "date": "1997", "authors": "Wu C, Chan MF, Stavros F, Raju B, Okun I, Mong S, Keller KM, Brock T, Kogan TP, Dixon RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "9171878", "url": "https://glygen.org/publication/PubMed/9171878" } ] }, { "title": "Inhibition of complement activity by humanized anti-C5 antibody and single-chain Fv.", "journal": "Molecular immunology", "date": "1996", "authors": "Thomas TC, Rollins SA, Rother RP, Giannoni MA, Hartman SL, Elliott EA, Nye SH, Matis LA, Squinto SP, Evans MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-174577", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174577" } ], "reference": [ { "type": "PubMed", "id": "9171898", "url": "https://glygen.org/publication/PubMed/9171898" } ] }, { "title": "Structural definition of the C5a C-terminus by two-dimensional nuclear magnetic resonance spectroscopy.", "journal": "Proteins", "date": "1997", "authors": "Zhang X, Boyar W, Toth M J, Wennogle L, Gonnella N C", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "9188742", "url": "https://glygen.org/publication/PubMed/9188742" } ] }, { "title": "Nocistatin, a peptide that blocks nociceptin action in pain transmission.", "journal": "Nature", "date": "1998", "authors": "Okuda-Ashitaka E, Minami T, Tachibana S, Yoshihara Y, Nishiuchi Y, Kimura T, Ito S", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "9521323", "url": "https://glygen.org/publication/PubMed/9521323" } ] }, { "title": "DNA methylation contributes to expression of the human neurotensin/neuromedin N gene.", "journal": "The American journal of physiology", "date": "1998", "authors": "Dong Z, Wang X, Zhao Q, Townsend CM Jr, Evers BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "9530155", "url": "https://glygen.org/publication/PubMed/9530155" } ] }, { "title": "Residues 21-30 within the extracellular N-terminal region of the C5a receptor represent a binding domain for the C5a anaphylatoxin.", "journal": "J. Biol. Chem.", "date": "1998", "authors": "Chen Z, Zhang X, Gonnella N C, Pellas T C, Boyar W C, Ni F", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "reference": [ { "type": "PubMed", "id": "9553099", "url": "https://glygen.org/publication/PubMed/9553099" } ] }, { "title": "Association of XK and Kell blood group proteins.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Russo D, Redman C, Lee S", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "9593744", "url": "https://glygen.org/publication/PubMed/9593744" } ] }, { "title": "A prolactin-releasing peptide in the brain.", "journal": "Nature", "date": "1998", "authors": "Hinuma S, Habata Y, Fujii R, Kawamata Y, Hosoya M, Fukusumi S, Kitada C, Masuo Y, Asano T, Matsumoto H, Sekiguchi M, Kurokawa T, Nishimura O, Onda H, Fujino M", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "9607765", "url": "https://glygen.org/publication/PubMed/9607765" } ] }, { "title": "Molecular characterization, pharmacological properties and chromosomal localization of the human GALR2 galanin receptor.", "journal": "Brain research. Molecular brain research", "date": "1998", "authors": "Fathi Z, Battaglino PM, Iben LG, Li H, Baker E, Zhang D, McGovern R, Mahle CD, Sutherland GR, Iismaa TP, Dickinson KE, Zimanyi IA", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "9685625", "url": "https://glygen.org/publication/PubMed/9685625" } ] }, { "title": "Cloned human and rat galanin GALR3 receptors. Pharmacology and activation of G-protein inwardly rectifying K+ channels.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Smith KE, Walker MW, Artymyshyn R, Bard J, Borowsky B, Tamm JA, Yao WJ, Vaysse PJ, Branchek TA, Gerald C, Jones KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "9722565", "url": "https://glygen.org/publication/PubMed/9722565" } ] }, { "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" } ] }, { "title": "Isolation and characterization of a novel endogenous peptide ligand for the human APJ receptor.", "journal": "Biochemical and biophysical research communications", "date": "1998", "authors": "Tatemoto K, Hosoya M, Habata Y, Fujii R, Kakegawa T, Zou MX, Kawamata Y, Fukusumi S, Hinuma S, Kitada C, Kurokawa T, Onda H, Fujino M", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "9792798", "url": "https://glygen.org/publication/PubMed/9792798" } ] }, { "title": "Molecular characterization and expression of cloned human galanin receptors GALR2 and GALR3.", "journal": "Journal of neurochemistry", "date": "1998", "authors": "Kolakowski LF Jr, O'Neill GP, Howard AD, Broussard SR, Sullivan KA, Feighner SD, Sawzdargo M, Nguyen T, Kargman S, Shiao LL, Hreniuk DL, Tan CP, Evans J, Abramovitz M, Chateauneuf A, Coulombe N, Ng G, Johnson MP, Tharian A, Khoshbouei H, George SR, Smith RG, O'Dowd BF", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "9832121", "url": "https://glygen.org/publication/PubMed/9832121" } ] }, { "title": "Neurotensin is an antagonist of the human neurotensin NT2 receptor expressed in Chinese hamster ovary cells.", "journal": "European journal of pharmacology", "date": "1998", "authors": "Vita N, Oury-Donat F, Chalon P, Guillemot M, Kaghad M, Bachy A, Thurneyssen O, Garcia S, Poinot-Chazel C, Casellas P, Keane P, Le Fur G, Maffrand JP, Soubrie P, Caput D, Ferrara P", "evidence": [ { "database": "Reactome", "id": "R-HSA-375276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276" } ], "reference": [ { "type": "PubMed", "id": "9851594", "url": "https://glygen.org/publication/PubMed/9851594" } ] } ], "pathway": [ { "id": "hsa:727", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:727", "resource": "KEGG Pathway" }, { "id": "R-HSA-166665", "name": "Terminal pathway of complement", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-166665", "resource": "Reactome", "description": "Terminal pathway of complement" }, { "id": "R-HSA-174577", "name": "Activation of C3 and C5", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174577", "resource": "Reactome", "description": "Activation of C3 and C5" }, { "id": "R-HSA-375276", "name": "Peptide ligand-binding receptors", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-375276", "resource": "Reactome", "description": "Peptide ligand-binding receptors" }, { "id": "R-HSA-418594", "name": "G alpha (i) signalling events", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "resource": "Reactome", "description": "G alpha (i) signalling events" }, { "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": "P06684-1", "protein_name": "Complement C5", "gene_name": "C5", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGLWGILCLLIFLDKTWGQEQTYVISAPKILRVGSSENVVIQVHGYTEAFDATLSLKSYPDKKVTFSSGYVNLSPENKFQNAALLTLQPNQVPREESPVSHVYLEVVSKHFSKSKKIPITYNNGILFIHTDKPVYTPDQSVKIRVYSLGDDLKPAKRETVLTFIDPEGSEVDIVEENDYTGIISFPDFKIPSNPKYGVWTIKANYKKDFTTTGTAYFEIKEYVLPRFSVSIELERTFIGYKNFKNFEITVKARYFYNKVVPDAEVYAFFGLREDIKDEEKQMMHKATQAAKLVDGVAQISFDSETAVKELSYNSLEDLNNKYLYIAVTVTESSGGFSEEAEIPGVKYVLSPYTLNLVATPLFVKPGIPFSIKAQVKDSLEQAVGGVPVTLMAQTVDVNQETSDLETKRSITHDTDGVAVFVLNLPSNVTVLKFEIRTDDPELPEENQASKEYEAVAYSSLSQSYIYIAWTENYKPMLVGEYLNIMVTPKSPYIDKITHYNYLILSKGKIVQYGTREKLFSSTYQNINIPVTQNMVPSARLLVYYIVTGEQTAELVADAVWINIEEKCGNQLQVHLSPDEYVYSPGQTVSLDMVTEADSWVALSAVDRAVYKVQGNAKRAMQRVFQALDEKSDLGCGAGGGHDNADVFHLAGLTFLTNANADDSHYRDDSCKEILRSKRNLHLLRQKIEEQAAKYKHSVPKKCCYDGARVNFYETCEERVARVTIGPLCIRAFNECCTIANKIRKESPHKPVQLGRIHIKTLLPVMKADIRSYFPESWLWEIHRVPKRKQLQVTLPDSLTTWEIQGIGISDNGICVADTLKAKVFKEVFLEMNIPYSVVRGEQIQLKGTVYNYMTSGTKFCVKMSAVEGICTSGSSAASLHTSRPSRCVFQRIEGSSSHLVTFTLLPLEIGLHSINFSLETSFGKDILVKTLRVVPEGVKRESYAGVILDPKGIRGIVNRRKEFPYRIPLDLVPKTKVERILSVKGLLVGEFLSTVLSKEGINILTHLPKGSAEAELMSIAPVFYVFHYLEAGNHWNIFYPDTLSKRQSLEKKIKQGVVSVMSYRNADYSYSMWKGASASTWLTAFALRVLGQVAKYVKQDENSICNSLLWLVEKCQLENGSFKENSQYLPIKLQGTLPAEAQEKTLYLTAFSVIGIRKAVDICPTMKIHTALDKADSFLLENTLPSKSTFTLAIVAYALSLGDRTHPRFRLIVSALRKEAFVKGDPPIYRYWRDTLKRPDSSVPSSGTAGMVETTAYALLASLKLKDMNYANPIIKWLSEEQRYGGGFYSTQDTINAIEGLTEYSLLLKQIHLDMDINVAYKHEGDFHKYKVTEKHFLGRPVEVSLNDDLVVSTGYSSGLATVYVKTVVHKISVSEEFCSFYLKIDTQDIEASSHFRLSDSGFKRIIACASYKPSKEESTSGSSHAVMDISLPTGIGANEEDLRALVEGVDQLLTDYQIKDGHVILQLNSIPSRDFLCVRFRIFELFQVGFLNPATFTVYEYHRPDKQCTMIYSISDTRLQKVCEGAACTCVEADCAQLQAEVDLAISADSRKEKACKPETAYAYKVRITSATEENVFVKYTATLLVTYKTGEAADENSEVTFIKKMSCTNANLVKGKQYLIMGKEVLQIKHNFSFKYIYPLDSSTWIEYWPTDTTCPSCQAFVENLNNFAEDLFLNSCE", "length": 1680 }, "evidence": [ { "id": "45924059", "url": "http://www.informatics.jax.org/homology/45924059", "database": "MGI" }, { "id": "P01031", "url": "https://omabrowser.org/oma/group/P01031/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" }, { "name": "membrane attack complex", "id": "GO:0005579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005579", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 11, "go_terms": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" }, { "name": "complement activation, classical pathway", "id": "GO:0006958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" }, { "name": "complement activation, alternative pathway", "id": "GO:0006957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006957", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor production", "id": "GO:0010575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010575", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" }, { "name": "killing of cells of another organism", "id": "GO:0031640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031640", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" }, { "name": "negative regulation of macrophage chemotaxis", "id": "GO:0010760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010760", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "P01031", "url": "https://www.uniprot.org/uniprot/P01031" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "complement C5 N-glycosylated 1 (human)", "definition": "A complement C5 (human) that has been N-glycosylated at the residue equivalent to Asn-1115 of the amino acid sequence represented by UniProtKB:P01031-1, in which the glycan composition is represented by GlyTouCan:G12580WI. Example: UniProtKB:P01031-1, Asn-1115, MOD:00160~GNO:G12580WI. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000051501", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000051501" } ] } ], "site_annotation": [ { "start_pos": 1115, "end_pos": 1117, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1630, "end_pos": 1632, "annotation": "n_glycosylation_sequon" }, { "start_pos": 741, "end_pos": 743, "annotation": "n_glycosylation_sequon" }, { "start_pos": 911, "end_pos": 913, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [ { "assessed_biomarker_entity": "Complement C5A (C5)", "biomarker_id": "A0140", "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "33123364", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33123364" }, { "id": "29423024", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29423024" } ], "instances": [ { "best_biomarker_type": "prognostic", "status": "increased C5 level", "disease": { "disease_id": "DOID:0080600", "recommended_name": { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2." }, "synonyms": [ { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019 Novel Coronavirus (2019-nCoV)", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "2019-nCoV infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan coronavirus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "Wuhan seafood market pneumonia virus infection", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "COVID19", "description": "" }, { "id": "DOID:0080600", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080600", "name": "SARS-CoV-2 infection", "description": "" } ] }, "tissue": { "name": "blood", "namespace": "UBERON", "id": "0000178", "url": "http://purl.obolibrary.org/obo/UBERON_0000178" }, "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "33123364", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33123364" } ] }, { "best_biomarker_type": "prognostic", "status": "increased C5 level", "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": "" } ] }, "tissue": { "name": "blood", "namespace": "UBERON", "id": "0000178", "url": "http://purl.obolibrary.org/obo/UBERON_0000178" }, "evidence": [ { "id": "GLY_000625", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000625" }, { "id": "29423024", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29423024" } ] } ] } ], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 741, 911, 1115, 1630 ], "o_linked_sites": [], "snv_sites": [ 72, 83, 110, 238, 425, 448, 529, 644, 743, 913, 987, 1063, 1115, 1117, 1206, 1235, 1236, 1294, 1314, 1366, 1367, 1425, 1478, 1540, 1578, 1630 ], "glycation_sites": [], "phosphorylation_sites": [ 971, 993 ], "sequon_annotation_sites": [ { "start_pos": 1115, "end_pos": 1117 }, { "start_pos": 1630, "end_pos": 1632 }, { "start_pos": 741, "end_pos": 743 }, { "start_pos": 911, "end_pos": 913 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 12 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 8 }, { "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": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "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": 8 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 8 }, { "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": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "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": 26 }, { "field": "total_sites", "count": 26 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 8 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 18 }, { "field": "total_sites", "count": 18 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 193 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }