{ "uniprot_canonical_ac": "O95622-1", "uniprot_ac": "O95622", "uniprot_id": "ADCY5_HUMAN", "mass": { "chemical_mass": 138908.0, "monoisotopic_mass": 138908.0 }, "refseq": { "ac": "NP_001186571", "name": "adenylate cyclase type 5 isoform 2", "summary": "This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186571" }, "gene_names": [ { "name": "ADCY5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95622", "id": "O95622" }, { "name": "AC5; DSKOD; FDFM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186571", "id": "NP_001186571" }, { "name": "ADCY5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186571", "id": "NP_001186571" } ], "protein_names": [ { "name": "Adenylate cyclase type 5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95622" }, { "name": "4.6.1.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95622" }, { "name": "AC5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95622" }, { "name": "ATP pyrophosphate-lyase 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95622" }, { "name": "Adenylate cyclase type V", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95622" }, { "name": "Adenylyl cyclase 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95622" }, { "name": "adenylate cyclase type 5 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186571", "id": "NP_001186571" }, { "name": "adenylate cyclase type 5; adenylyl cyclase 5; adenylate cyclase type V; ATP pyrophosphate-lyase 5; epididymis secretory sperm binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186571", "id": "NP_001186571" } ], "function": [ { "annotation": "Association of MARC1, ADCY5, and BCO1 Variants with the Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia in Mexican Adult Men. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001186571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186571" }, { "database": "PubMed", "id": "36233117", "url": "https://glygen.org/publication/PubMed/36233117" } ] }, { "annotation": "Association of diabetes-related variants in ADCY5 and CDKAL1 with neonatal insulin, C-peptide, and birth weight.", "evidence": [ { "database": "RefSeq", "id": "NP_001186571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186571" }, { "database": "PubMed", "id": "34169461", "url": "https://glygen.org/publication/PubMed/34169461" } ] }, { "annotation": "Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling (PubMed:15385642, PubMed:26206488, PubMed:24700542). Mediates signaling downstream of ADRB1 (PubMed:24700542). Regulates the increase of free cytosolic Ca(2+) in response to increased blood glucose levels and contributes to the regulation of Ca(2+)-dependent insulin secretion (PubMed:24740569).", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622#function" }, { "database": "PubMed", "id": "24740569", "url": "https://glygen.org/publication/PubMed/24740569" }, { "database": "PubMed", "id": "24700542", "url": "https://glygen.org/publication/PubMed/24700542" }, { "database": "PubMed", "id": "26206488", "url": "https://glygen.org/publication/PubMed/26206488" }, { "database": "PubMed", "id": "15385642", "url": "https://glygen.org/publication/PubMed/15385642" } ] }, { "annotation": "Deep brain stimulation effect in genetic dyskinetic cerebral palsy: The case of ADCY5- related disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001186571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186571" }, { "database": "PubMed", "id": "36610259", "url": "https://glygen.org/publication/PubMed/36610259" } ] }, { "annotation": "Mutation of ADCY5 gene in patients with Meige syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001186571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186571" }, { "database": "PubMed", "id": "35288007", "url": "https://glygen.org/publication/PubMed/35288007" } ] }, { "annotation": "This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001186571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186571" } ] } ], "disease": [ { "disease_id": "MONDO:0030625", "recommended_name": { "id": "MONDO:0030625", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030625", "name": "dyskinesia with orofacial involvement, autosomal recessive", "description": "" }, "synonyms": [ { "id": "MONDO:0030625", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030625", "name": "DSKOR", "description": "" }, { "id": "MONDO:0030625", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030625", "name": "dyskinesia with orofacial involvement, autosomal recessive", "description": "" }, { "id": "MIM:619647", "resource": "MIM", "url": "https://www.omim.org/entry/619647", "name": "Dyskinesia with orofacial involvement, autosomal recessive", "description": "Dyskinesia with orofacial involvement, autosomal recessive" } ], "evidence": [ { "id": "619647", "database": "MIM", "url": "https://www.omim.org/entry/619647" } ] }, { "disease_id": "MONDO:0800028", "recommended_name": { "id": "MONDO:0800028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800028", "name": "dyskinesia with orofacial involvement, autosomal dominant", "description": "A rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness." }, "synonyms": [ { "id": "MONDO:0800028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800028", "name": "FDFM", "description": "" }, { "id": "MONDO:0800028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800028", "name": "dyskinesia, familial, with facial myokymia", "description": "" }, { "id": "MONDO:0800028", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800028", "name": "ADCY5-related dyskinesia", "description": "" } ], "evidence": [ { "id": "606703", "database": "MIM", "url": "https://www.omim.org/entry/606703" } ] }, { "disease_id": "MONDO:0859211", "recommended_name": { "id": "MONDO:0859211", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859211", "name": "neurodevelopmental disorder with hyperkinetic movements and dyskinesia", "description": "" }, "synonyms": [ { "id": "MIM:619651", "resource": "MIM", "url": "https://www.omim.org/entry/619651", "name": "Neurodevelopmental disorder with hyperkinetic movements and dyskinesia", "description": "Neurodevelopmental disorder with hyperkinetic movements and dyskinesia" } ], "evidence": [ { "id": "619651", "database": "MIM", "url": "https://www.omim.org/entry/619651" } ] } ], "snv": [ { "evidence": [ { "id": "O95622", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95622" } ], "glycoeffect": [], "start_pos": 1056, "end_pos": 1056, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "123291274", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1056", "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" } ] }, { "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: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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O95622", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95622" } ], "glycoeffect": [], "start_pos": 1126, "end_pos": 1126, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "123289906", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1126", "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" } ] }, { "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: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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs372969062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372969062" }, { "id": "rs372969062", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372969062" }, { "id": "rs372969062", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372969062" }, { "id": "rs372969062", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372969062#frequency_tab" }, { "id": "rs372969062", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372969062" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1137, "end_pos": 1137, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "3", "chr_pos": "123289873", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1137", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95622", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95622" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1182, "end_pos": 1182, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NIG->NIS).", "chr_id": "3", "chr_pos": "123286798", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1182", "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": "rs867392033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867392033" }, { "id": "rs867392033", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867392033" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1206, "end_pos": 1206, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVA->NVT).", "chr_id": "3", "chr_pos": "123286726", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A1206", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867359393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867359393" }, { "id": "rs867359393", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs867359393" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1210, "end_pos": 1210, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DST->NST).", "chr_id": "3", "chr_pos": "123286714", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95622", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95622" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 291, "end_pos": 291, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "3", "chr_pos": "123447675", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A291", "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": "O95622", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95622" } ], "glycoeffect": [], "start_pos": 323, "end_pos": 323, "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 (3).", "chr_id": "3", "chr_pos": "123447579", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R323", "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: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": "" } ] }, { "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": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1370443253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1370443253" }, { "id": "rs1370443253", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1370443253" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 42, "end_pos": 42, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGY->NGS).", "chr_id": "3", "chr_pos": "123448421", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y42", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95622", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95622" } ], "glycoeffect": [], "start_pos": 499, "end_pos": 499, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "123332587", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A499", "disease": [ { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] }, { "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: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": "rs977612868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs977612868" }, { "id": "rs977612868", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs977612868#frequency_tab" }, { "id": "rs977612868", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs977612868" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 6, "end_pos": 6, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SVS->NVS).", "chr_id": "3", "chr_pos": "123448529", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S6", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95622", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95622" } ], "glycoeffect": [], "start_pos": 722, "end_pos": 722, "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 (3).", "chr_id": "3", "chr_pos": "123319766", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R722", "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: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": "O95622", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95622" } ], "glycoeffect": [], "start_pos": 829, "end_pos": 829, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "123304140", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R829", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID: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" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O95622", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95622" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 859, "end_pos": 859, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NSR->NSS).", "chr_id": "3", "chr_pos": "123303202", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R859", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1213185511", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1213185511" }, { "id": "rs1213185511", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1213185511#frequency_tab" }, { "id": "rs1213185511", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1213185511" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 872, "end_pos": 872, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->NII).", "chr_id": "3", "chr_pos": "123303164", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S872", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774983582", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774983582" }, { "id": "rs774983582", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774983582" }, { "id": "rs774983582", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774983582#frequency_tab" }, { "id": "rs774983582", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774983582" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 887, "end_pos": 887, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->IYS).", "chr_id": "3", "chr_pos": "123303119", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N887", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs368933717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368933717" }, { "id": "rs368933717", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs368933717" }, { "id": "rs368933717", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs368933717#frequency_tab" }, { "id": "rs368933717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs368933717" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 887, "end_pos": 887, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->KYS).", "chr_id": "3", "chr_pos": "123303118", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N887", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774983582", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774983582" }, { "id": "rs774983582", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774983582" }, { "id": "rs774983582", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs774983582#frequency_tab" }, { "id": "rs774983582", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774983582" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 887, "end_pos": 887, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->SYS).", "chr_id": "3", "chr_pos": "123303119", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N887", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95622", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95622" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 889, "end_pos": 889, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NYS->NYN).", "chr_id": "3", "chr_pos": "123303113", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S889", "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" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "75.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173175", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173175" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "42.16", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000173175", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173175" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "85.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173175", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173175" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173175", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173175" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "79.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173175", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173175" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "79.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173175", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173175" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "66.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173175", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173175" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "73.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000173175", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173175" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "88.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173175", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173175" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000173175", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173175" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95622", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95622" } ], "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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O95622", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95622" } ], "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": "O95622", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95622" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O95622", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95622" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O95622", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95622" } ], "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": "O95622", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95622" } ], "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O95622", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95622" } ], "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": "No", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O95622", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95622" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O95622", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95622" } ], "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": "O95622", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95622" } ], "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": "O95622", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95622" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O95622", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95622" } ], "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": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "common_name": "Human" } ], "gene": [ { "name": "ADCY5", "url": "https://www.uniprot.org/uniprot/O95622", "locus": { "chromosome": "3", "start_pos": 123282296, "end_pos": 123449090, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000173175", "url": "https://www.ensembl.org/id/ENSG00000173175" } ] } } ], "crossref": [ { "id": "ENSG00000173175", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173175", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O95622", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95622", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "4.6.1.1", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=4.6.1.1&UniProtAcc=O95622", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd07302", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07302", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd07556", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07556", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL3189", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL3189", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "ADCY5", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=ADCY5", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "111", "url": "https://www.ncbi.nlm.nih.gov/gene/111", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "236", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=236", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O95622", "url": "https://www.ebi.ac.uk/intact/interactors/id:O95622*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001054", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001054", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009398", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009398", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018297", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018297", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029787", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029787", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR030672", "url": "https://www.ebi.ac.uk/interpro/entry/IPR030672", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032628", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032628", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:111", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:111", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "600293", "url": "http://www.omim.org/entry/600293", "database": "MIM", "categories": [ "Other" ] }, { "id": "606703", "url": "http://www.omim.org/entry/606703", "database": "MIM", "categories": [ "Other" ] }, { "id": "619647", "url": "http://www.omim.org/entry/619647", "database": "MIM", "categories": [ "Other" ] }, { "id": "619651", "url": "http://www.omim.org/entry/619651", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O95622", "url": "https://www.nextprot.org/entry/NX_O95622", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "GSLWPNC", "url": "https://omabrowser.org/oma/group/GSLWPNC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3686360at2759", "url": "http://www.orthodb.org/?query=3686360at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45627", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45627", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45627:SF7", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45627:SF7", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00211", "url": "http://pfam.xfam.org/family/PF00211", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF06327", "url": "http://pfam.xfam.org/family/PF06327", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16214", "url": "http://pfam.xfam.org/family/PF16214", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O95622", "url": "https://pharos.nih.gov/targets/O95622", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O95622", "url": "http://purl.obolibrary.org/obo/PR_O95622", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-163359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163359", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-163615", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163615", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-164378", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-164378", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-170660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170660", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-170670", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170670", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555", "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-418597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9660821", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660821", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001186571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186571", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "15389", "url": "https://www.rhea-db.org/rhea/15389", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A8V8TNW3", "url": "https://www.uniprot.org/uniprot/A0A8V8TNW3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TNW3-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TNW3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TP58", "url": "https://www.uniprot.org/uniprot/A0A8V8TP58", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TP58-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TP58-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B3KWA8", "url": "https://www.uniprot.org/uniprot/B3KWA8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B3KWA8-1", "url": "https://www.uniprot.org/uniprot/B3KWA8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JRT8", "url": "https://www.uniprot.org/uniprot/C9JRT8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JRT8-1", "url": "https://www.uniprot.org/uniprot/C9JRT8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WBM0", "url": "https://www.uniprot.org/uniprot/F8WBM0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WBM0-1", "url": "https://www.uniprot.org/uniprot/F8WBM0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95622-1", "url": "https://www.uniprot.org/uniprot/O95622-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95622-2", "url": "https://www.uniprot.org/uniprot/O95622-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSGSKSVSPPGYAAQKTAAPAPRGGPEHRSAWGEADSRANGYPHAPGGSARGSTKKPGGAVTPQQQQRLASRWRSDDDDDPPLSGDDPLAGGFGFSFRSKSAWQERGGDDCGRGSRRQRRGAASGGSTRAPPAGGGGGSAAAAASAGGTEVRPRSVEVGLEERRGKGRAADELEAGAVEGGEGSGDGGSSADSGSGAGPGAVLSLGACCLALLQIFRSKKFPSDKLERLYQRYFFRLNQSSLTMLMAVLVLVCLVMLAFHAARPPLQLPYLAVLAAAVGVILIMAVLCNRAAFHQDHMGLACYALIAVVLAVQVVGLLLPQPRSASEGIWWTVFFIYTIYTLLPVRMRAAVLSGVLLSALHLAIALRTNAQDQFLLKQLVSNVLIFSCTNIVGVCTHYPAEVSQRQAFQETRECIQARLHSQRENQQQERLLLSVLPRHVAMEMKADINAKQEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQELVMTLNELFARFDKLAAENHCLRIKILGDCYYCVSGLPEARADHAHCCVEMGMDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGKAGRIHITKATLNYLNGDYEVEPGCGGERNAYLKEHSIETFLILRCTQKRKEEKAMIAKMNRQRTNSIGHNPPHWGAERPFYNHLGGNQVSKEMKRMGFEDPKDKNAQESANPEDEVDEFLGRAIDARSIDRLRSEHVRKFLLTFREPDLEKKYSKQVDDRFGAYVACASLVFLFICFVQITIVPHSIFMLSFYLTCSLLLTLVVFVSVIYSCVKLFPSPLQTLSRKIVRSKMNSTLVGVFTITLVFLAAFVNMFTCNSRDLLGCLAQEHNISASQVNACHVAESAVNYSLGDEQGFCGSPWPNCNFPEYFTYSVLLSLLACSVFLQISCIGKLVLMLAIELIYVLIVEVPGVTLFDNADLLVTANAIDFFNNGTSQCPEHATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKLQATEEKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDELYYQSCECVAVMFASIANFSEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLEKIKTIGSTYMAASGLNDSTYDKVGKTHIKALADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIGARKPQYDIWGNTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPLS", "length": 1261, "header": "sp|O95622-1|ADCY5_HUMAN Isoform 1 of Adenylate cyclase type 5 OS=Homo sapiens OX=9606 GN=ADCY5 PE=1 SV=3 CANONICAL=O95622-1" }, "isoforms": [ { "isoform_ac": "A0A8V8TNW3-1", "url": "", "sequence": { "sequence": "MDVSAQEESEFSPPLPFCSIQAFSGFDNAHLNLLVSNVLIFSCTNIVGVCTHYPAEVSQRQAFQETRECIQARLHSQRENQQQERLLLSVLPRHVAMEMKADINAKQEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQELVMTLNELFARFDKLAAENHCLRIKILGDCYYCVSGLPEARADHAHCCVEMGMDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGKAGRIHITKATLNYLNGDYEVEPGCGGERNAYLKEHSIETFLILRCTQKRKEEKAMIAKMNRQRTNSIGHNPPHWGAERPFYNHLGGNQVSKEMKRMGFEDPKDKNAQESANPEDEVDEFLGRAIDARSIDRLRSEHVRKFLLTFREPDLEKKYSKQVDDRFGAYVACASLVFLFICFVQITIVPHSIFMLSFYLTCSLLLTLVVFVSVIYSCVKLFPSPLQTLSRKIVRSKMNSTLVGVFTITLVFLAAFVNMFTCNSRDLLGCLAQEHNISASQVNACHVAESAVNYSLGDEQGFCGSPWPNCNFPEYFTYSVLLSLLACSVFLQISCIGKLVLMLAIELIYVLIVEVPGVTLFDNADLLVTANAIDFFNNGTSQCPEHATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKLQATEEKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDELYYQSCECVAVMFASIANFSEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLEKIKTIGSTYMAASGLNDSTYDKVGKTHIKALADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIGARKPQYDIWGNTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPLS", "length": 916, "header": "tr|A0A8V8TNW3-1|A0A8V8TNW3_HUMAN Computationally mapped isoform of Adenylate cyclase type 5 OS=Homo sapiens OX=9606 GN=ADCY5 PE=1 SV=1 CANONICAL=O95622-1" }, "locus": { "chromosome": "3", "start_pos": 123418879, "end_pos": 123284611, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000470367.2", "url": "https://www.ensembl.org/id/ENST00000470367.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000514541.1", "url": "https://www.ensembl.org/id/ENSP00000514541.1" } ] } }, { "isoform_ac": "A0A8V8TP58-1", "url": "", "sequence": { "sequence": "MSGSKSVSPPGYAAQKTAAPAPRGGPEHRSAWGEADSRANGYPHAPGGSARGSTKKPGGAVTPQQQQRLASRWRSDDDDDPPLSGDDPLAGGFGFSFRSKSAWQERGGDDCGRGSRRQRRGAASGGSTRAPPAGGGGGSAAAAASAGGTEVRPRSVEVGLEERRGKGRAADELEAGAVEGGEGSGDGGSSADSGSGAGPGAVLSLGACCLALLQIFRSKKFPSDKLERLYQRYFFRLNQSSLTMLMAVLVLVCLVMLAFHAARPPLQLPYLAVLAAAVGVILIMAVLCNRAAFHQDHMGLACYALIAVVLAVQVVGLLLPQPRSASEGIWWTVFFIYTIYTLLPVRMRAAVLSGVLLSALHLAIALRTNAQDQFLLKQLVSNVLIFSCTNIVGVCTHYPAEVSQRQAFQETRECIQARLHSQRENQQQERLLLSVLPRHVAMEMKADINAKQEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQELVMTLNELFARFDKLAAENHCLRIKILGDCYYCVSGLPEARADHAHCCVEMGMDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGKAGRIHITKATLNYLNGDYEVEPGCGGERNAYLKEHSIETFLILRCTQKRKEEKAMIAKMNRQRTNSIGHNPPHWGAERPFYNHLGGNQVSKEMKRMGFEDPKDKNAQESANPEDEVDEFLGRAIDARSIDRLRSEHVRKFLLTFREPDLEKKYSKQVDDRFGAYVACASLVFLFICFVQITIVPHSIFMLSFYLTCSLLLTLVVFVSVIYSCVKLFPSPLQTLSRKIVRSKMNSTLVGVFTITLVFLAAFVNMFTCNSRDLLGCLAQEHNISASQVNACHVAESAVNYSLGDEQGFCGSPWPNCNFPEYFTYSVLLSLLACSVFLQISCIGKLVLMLAIELIYVLIVEVPGVTLFDNADLLVTANAIDFFNNGTSQWSLCENLRHRRMEAGTYFPSGVKEQSPEHATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKLQATEEKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDELYYQSCECVAVMFASIANFSEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLEKIKTIGSTYMAASGLNDSTYDKVGKTHIKALADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIGARKPQYDIWGNTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPLS", "length": 1286, "header": "tr|A0A8V8TP58-1|ADCY5_HUMAN Computationally mapped isoform of Adenylate cyclase type 5 OS=Homo sapiens OX=9606 GN=ADCY5 PE=1 SV=1 CANONICAL=O95622-1" }, "locus": { "chromosome": "3", "start_pos": 123448545, "end_pos": 123284611, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699718.1", "url": "https://www.ensembl.org/id/ENST00000699718.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514543.1", "url": "https://www.ensembl.org/id/ENSP00000514543.1" } ] } }, { "isoform_ac": "B3KWA8-1", "url": "", "sequence": { "sequence": "MAPSRFRTQLELVSNVLIFSCTNIVGVCTHYPAEVSQRQAFQETRECIQARLHSQRENQQQERLLLSVLPRHVAMEMKADINAKQEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQELVMTLNELFARFDKLAAENHCLRIKILGDCYYCVSGLPEARADHAHCCVEMGMDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGKAGRIHITKATLNYLNGDYEVEPGCGGERNAYLKEHSIETFLILRCTQKRKEEKAMIAKMNRQRTNSIGHNPPHWGAERPFYNHLGGNQVSKEMKRMGFEDPKDKNAQESANPEDEVDEFLGRAIDARSIDRLRSEHVRKFLLTFREPDLEKKYSKQVDDRFGAYVACASLVFLFICFVQITIVPHSIFMLSFYLTCSLLLTLVVFVSVIYSCVKLFPSPLQTLSRKIVRSKMNSTLVGVFTITLVFLAAFVNMFTCNSRDLLGCLAQEHNISASQVNACHVAESAVNYSLGDEQGFCGSPWPNCNFPEYFTYSVLLSLLACSVFLQISCIGKLVLMLAIELIYVLIVEVPGVTLFDNADLLVTANAIDFFNNGTSQWSLCENLRHRRMEAGTYFPSGVKEQSPEHATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKLQATEEKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDELYYQSCECVAVMFASIANFSEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLEKIKTIGSTYMAASGLNDSTYDKVGKTHIKALADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIGARKPQYDIWGNTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPLS", "length": 919, "header": "tr|B3KWA8-1|ADCY5_HUMAN Computationally mapped isoform of Adenylate cyclase type 5 OS=Homo sapiens OX=9606 GN=ADCY5 PE=1 SV=1 CANONICAL=O95622-1" }, "locus": { "chromosome": "3", "start_pos": 123367937, "end_pos": 123284611, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000491190.5", "url": "https://www.ensembl.org/id/ENST00000491190.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000418537.1", "url": "https://www.ensembl.org/id/ENSP00000418537.1" } ] } }, { "isoform_ac": "C9JRT8-1", "url": "", "sequence": { "sequence": "MEMKADINAKQEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQELVMTLNELFARFDKLAAENHCLRIKILGDCYYCVSGLPEARADHAHCCVEMGMDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGKAGRIHITKATLNYLNGDYEVEPGCGGERNAYLKEHSIETFLILRCTQKRKEEKAMIAKMNRQRTNSIGHNPPHWGAERPFYNHLGGNQVSKEMKRMGFEDPKDKNAQESANPEDEVDEFLGRAIDARSIDRLRSEHVRKFLLTFREPDLEKKYSKQVDDRFGAYVACASLVFLFICFVQITIVPHSIFMLSFYLTCSLLLTLVVFVSVIYSCVKLFPSPLQTLSRKIVRSKMNSTLVGVFTITLVFLAAFVNMFTCNSRDLLGCLAQEHNISASQVNACHVAESAVNYSLGDEQGFCGSPWPNCNFPEYFTYSVLLSLLACSVFLQISCIGKLVLMLAIELIYVLIVEVPGVTLFDNADLLVTANAIDFFNNGTSQCPEHATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKLQATEEKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDELYYQSCECVAVMFASIANFSEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLEKIKTIGSTYMAASGLNDSTYDKVGKTHIKALADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIGARKPQYDIWGNTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPLS", "length": 820, "header": "tr|C9JRT8-1|ADCY5_HUMAN Computationally mapped isoform of Adenylate cyclase type 5 OS=Homo sapiens OX=9606 GN=ADCY5 PE=1 SV=2 CANONICAL=O95622-1" }, "locus": { "chromosome": "3", "start_pos": 123347864, "end_pos": 123284611, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699714.1", "url": "https://www.ensembl.org/id/ENST00000699714.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514539.1", "url": "https://www.ensembl.org/id/ENSP00000514539.1" } ] } }, { "isoform_ac": "F8WBM0-1", "url": "", "sequence": { "sequence": "MAPSRFRTQLEVSLSPMFSFSPAPTSWVSAPTIRLRSPRDRLSRRPESASRRGSTRSGRTSSRNGSCCLSFPVMLPWR", "length": 78, "header": "tr|F8WBM0-1|ADCY5_HUMAN Computationally mapped isoform of Adenylate cyclase type 5 OS=Homo sapiens OX=9606 GN=ADCY5 PE=1 SV=1 CANONICAL=O95622-1" }, "locus": { "chromosome": "3", "start_pos": 123367937, "end_pos": 123347858, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000476455.1", "url": "https://www.ensembl.org/id/ENST00000476455.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000417789.1", "url": "https://www.ensembl.org/id/ENSP00000417789.1" } ] } }, { "isoform_ac": "O95622-1", "url": "", "sequence": { "sequence": "MSGSKSVSPPGYAAQKTAAPAPRGGPEHRSAWGEADSRANGYPHAPGGSARGSTKKPGGAVTPQQQQRLASRWRSDDDDDPPLSGDDPLAGGFGFSFRSKSAWQERGGDDCGRGSRRQRRGAASGGSTRAPPAGGGGGSAAAAASAGGTEVRPRSVEVGLEERRGKGRAADELEAGAVEGGEGSGDGGSSADSGSGAGPGAVLSLGACCLALLQIFRSKKFPSDKLERLYQRYFFRLNQSSLTMLMAVLVLVCLVMLAFHAARPPLQLPYLAVLAAAVGVILIMAVLCNRAAFHQDHMGLACYALIAVVLAVQVVGLLLPQPRSASEGIWWTVFFIYTIYTLLPVRMRAAVLSGVLLSALHLAIALRTNAQDQFLLKQLVSNVLIFSCTNIVGVCTHYPAEVSQRQAFQETRECIQARLHSQRENQQQERLLLSVLPRHVAMEMKADINAKQEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQELVMTLNELFARFDKLAAENHCLRIKILGDCYYCVSGLPEARADHAHCCVEMGMDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGKAGRIHITKATLNYLNGDYEVEPGCGGERNAYLKEHSIETFLILRCTQKRKEEKAMIAKMNRQRTNSIGHNPPHWGAERPFYNHLGGNQVSKEMKRMGFEDPKDKNAQESANPEDEVDEFLGRAIDARSIDRLRSEHVRKFLLTFREPDLEKKYSKQVDDRFGAYVACASLVFLFICFVQITIVPHSIFMLSFYLTCSLLLTLVVFVSVIYSCVKLFPSPLQTLSRKIVRSKMNSTLVGVFTITLVFLAAFVNMFTCNSRDLLGCLAQEHNISASQVNACHVAESAVNYSLGDEQGFCGSPWPNCNFPEYFTYSVLLSLLACSVFLQISCIGKLVLMLAIELIYVLIVEVPGVTLFDNADLLVTANAIDFFNNGTSQCPEHATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKLQATEEKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDELYYQSCECVAVMFASIANFSEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLEKIKTIGSTYMAASGLNDSTYDKVGKTHIKALADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIGARKPQYDIWGNTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPLS", "length": 1261, "header": "sp|O95622-1|ADCY5_HUMAN Isoform 1 of Adenylate cyclase type 5 OS=Homo sapiens OX=9606 GN=ADCY5 PE=1 SV=3 CANONICAL=O95622-1" }, "locus": { "chromosome": "3", "start_pos": 123448545, "end_pos": 123284611, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000462833.6", "url": "https://www.ensembl.org/id/ENST00000462833.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000419361.1", "url": "https://www.ensembl.org/id/ENSP00000419361.1" } ] } }, { "isoform_ac": "O95622-2", "url": "", "sequence": { "sequence": "MKSQKEGCCSRGDLSIQTGPGGEWAPRRLVSNVLIFSCTNIVGVCTHYPAEVSQRQAFQETRECIQARLHSQRENQQQERLLLSVLPRHVAMEMKADINAKQEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQELVMTLNELFARFDKLAAENHCLRIKILGDCYYCVSGLPEARADHAHCCVEMGMDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGKAGRIHITKATLNYLNGDYEVEPGCGGERNAYLKEHSIETFLILRCTQKRKEEKAMIAKMNRQRTNSIGHNPPHWGAERPFYNHLGGNQVSKEMKRMGFEDPKDKNAQESANPEDEVDEFLGRAIDARSIDRLRSEHVRKFLLTFREPDLEKKYSKQVDDRFGAYVACASLVFLFICFVQITIVPHSIFMLSFYLTCSLLLTLVVFVSVIYSCVKLFPSPLQTLSRKIVRSKMNSTLVGVFTITLVFLAAFVNMFTCNSRDLLGCLAQEHNISASQVNACHVAESAVNYSLGDEQGFCGSPWPNCNFPEYFTYSVLLSLLACSVFLQISCIGKLVLMLAIELIYVLIVEVPGVTLFDNADLLVTANAIDFFNNGTSQCPEHATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKLQATEEKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDELYYQSCECVAVMFASIANFSEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLEKIKTIGSTYMAASGLNDSTYDKVGKTHIKALADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIGARKPQYDIWGNTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPLS", "length": 911, "header": "sp|O95622-2|ADCY5_HUMAN Isoform 2 of Adenylate cyclase type 5 OS=Homo sapiens OX=9606 GN=ADCY5 PE=1 SV=3 CANONICAL=O95622-1" }, "locus": { "chromosome": "3", "start_pos": 123416267, "end_pos": 123284611, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000309879.9", "url": "https://www.ensembl.org/id/ENST00000309879.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000308685.5", "url": "https://www.ensembl.org/id/ENSP00000308685.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 870, "start_aa": "Asn", "end_pos": 870, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn870", "evidence": [ { "id": "O95622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95622#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 887, "start_aa": "Asn", "end_pos": 887, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn887", "evidence": [ { "id": "O95622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95622#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 1011, "end_pos": 1011, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "site_lbl": "Thr1011" }, { "start_pos": 155, "end_pos": 155, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "site_lbl": "Ser155" }, { "start_pos": 368, "end_pos": 368, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O95622", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95622" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Thr368" }, { "start_pos": 666, "end_pos": 666, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "site_lbl": "Ser666" }, { "start_pos": 754, "end_pos": 754, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "site_lbl": "Ser754" }, { "start_pos": 96, "end_pos": 96, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "site_lbl": "Ser96" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Calmodulin-binding sites on adenylyl cyclase type VIII.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Gu C, Cooper DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-163615", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163615" } ], "reference": [ { "type": "PubMed", "id": "10075700", "url": "https://glygen.org/publication/PubMed/10075700" } ] }, { "title": "cAMP-dependent mobilization of intracellular Ca2+ stores by activation of ryanodine receptors in pancreatic beta-cells. A Ca2+ signaling system stimulated by the insulinotropic hormone glucagon-like peptide-1-(7-37).", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Holz GG, Leech CA, Heller RS, Castonguay M, Habener JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "10318832", "url": "https://glygen.org/publication/PubMed/10318832" } ] }, { "title": "Regions on adenylyl cyclase that are necessary for inhibition of activity by beta gamma and G(ialpha) subunits of heterotrimeric G proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Wittpoth C, Scholich K, Yigzaw Y, Stringfield TM, Patel TB", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "10449730", "url": "https://glygen.org/publication/PubMed/10449730" } ] }, { "title": "Cloning and sequence of partial cDNAs encoding the human type V and VI adenylyl cyclases and subsequent RNA-quantification in various tissues.", "journal": "Clin. Chim. Acta", "date": "1999", "authors": "Raimundo S, Giray J, Volff JN, Schwab M, Altenbuchner J, Ratge D, Wisser H", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "reference": [ { "type": "PubMed", "id": "10481931", "url": "https://glygen.org/publication/PubMed/10481931" } ] }, { "title": "Characterization of human A(2B) adenosine receptors: radioligand binding, western blotting, and coupling to G(q) in human embryonic kidney 293 cells and HMC-1 mast cells.", "journal": "Molecular pharmacology", "date": "1999", "authors": "Linden J, Thai T, Figler H, Jin X, Robeva AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9660821", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660821" } ], "reference": [ { "type": "PubMed", "id": "10496952", "url": "https://glygen.org/publication/PubMed/10496952" } ] }, { "title": "Phospholipase C-gamma as a signal-transducing element.", "journal": "Experimental cell research", "date": "1999", "authors": "Carpenter G, Ji Qs", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "10579907", "url": "https://glygen.org/publication/PubMed/10579907" } ] }, { "title": "Mutagenesis in the switch IV of the helical domain of the human Gsalpha reduces its GDP/GTP exchange rate.", "journal": "Journal of cellular biochemistry", "date": "2000", "authors": "Echeverria V, Hinrichs MV, Torrejon M, Ropero S, Martinez J, Toro MJ, Olate J", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "10649434", "url": "https://glygen.org/publication/PubMed/10649434" } ] }, { "title": "Cooperative effect of hepatocyte growth factor and fibronectin in anchorage-independent survival of mammary carcinoma cells: requirement for phosphatidylinositol 3-kinase activity.", "journal": "Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research", "date": "2000", "authors": "Qiao H, Saulnier R, Patryzkat A, Rahimi N, Raptis L, Rossiter J, Tremblay E, Elliott B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "10714768", "url": "https://glygen.org/publication/PubMed/10714768" } ] }, { "title": "Differential involvement of Src family kinases in Fc gamma receptor-mediated phagocytosis.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2000", "authors": "Suzuki T, Kono H, Hirose N, Okada M, Yamamoto T, Yamamoto K, Honda Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "10861086", "url": "https://glygen.org/publication/PubMed/10861086" } ] }, { "title": "Loss of signaling through the G protein, Gz, results in abnormal platelet activation and altered responses to psychoactive drugs.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Yang J, Wu J, Kowalska MA, Dalvi A, Prevost N, O'Brien PJ, Manning D, Poncz M, Lucki I, Blendy JA, Brass LF", "evidence": [ { "database": "Reactome", "id": "R-HSA-418597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597" } ], "reference": [ { "type": "PubMed", "id": "10954748", "url": "https://glygen.org/publication/PubMed/10954748" } ] }, { "title": "Hedgehog induces opposite changes in turnover and subcellular localization of patched and smoothened.", "journal": "Cell", "date": "2000", "authors": "Denef N, Neubuser D, Perez L, Cohen SM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "10966113", "url": "https://glygen.org/publication/PubMed/10966113" } ] }, { "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-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "11007482", "url": "https://glygen.org/publication/PubMed/11007482" } ] }, { "title": "Structural determinants of water permeation through aquaporin-1.", "journal": "Nature", "date": "2000", "authors": "Murata K, Mitsuoka K, Hirai T, Walz T, Agre P, Heymann JB, Engel A, Fujiyoshi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "11034202", "url": "https://glygen.org/publication/PubMed/11034202" } ] }, { "title": "Estrogen-induced activation of Erk-1 and Erk-2 requires the G protein-coupled receptor homolog, GPR30, and occurs via trans-activation of the epidermal growth factor receptor through release of HB-EGF.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2000", "authors": "Filardo EJ, Quinn JA, Bland KI, Frackelton AR Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "11043579", "url": "https://glygen.org/publication/PubMed/11043579" } ] }, { "title": "Expression of cAMP-regulated guanine nucleotide exchange factors in pancreatic beta-cells.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Leech CA, Holz GG, Chepurny O, Habener JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "11071853", "url": "https://glygen.org/publication/PubMed/11071853" } ] }, { "title": "The subcellular localization of an aquaporin-2 tetramer depends on the stoichiometry of phosphorylated and nonphosphorylated monomers.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Kamsteeg EJ, Heijnen I, van Os CH, Deen PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "11076974", "url": "https://glygen.org/publication/PubMed/11076974" } ] }, { "title": "G(z) signaling: emerging divergence from G(i) signaling.", "journal": "Oncogene", "date": "2001", "authors": "Ho MK, Wong YH", "evidence": [ { "database": "Reactome", "id": "R-HSA-418597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597" } ], "reference": [ { "type": "PubMed", "id": "11313909", "url": "https://glygen.org/publication/PubMed/11313909" } ] }, { "title": "G-protein signaling through tubby proteins.", "journal": "Science (New York, N.Y.)", "date": "2001", "authors": "Santagata S, Boggon TJ, Baird CL, Gomez CA, Zhao J, Shan WS, Myszka DG, Shapiro L", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "11375483", "url": "https://glygen.org/publication/PubMed/11375483" } ] }, { "title": "Estrogen action via the G protein-coupled receptor, GPR30: stimulation of adenylyl cyclase and cAMP-mediated attenuation of the epidermal growth factor receptor-to-MAPK signaling axis.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2002", "authors": "Filardo EJ, Quinn JA, Frackelton AR Jr, Bland KI", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "11773440", "url": "https://glygen.org/publication/PubMed/11773440" } ] }, { "title": "Activation of adenylyl cyclases, regulation of insulin status, and cell survival by G(alpha)olf in pancreatic beta-cells.", "journal": "American journal of physiology. Regulatory, integrative and comparative physiology", "date": "2002", "authors": "Regnauld KL, Leteurtre E, Gutkind SJ, Gespach CP, Emami S", "evidence": [ { "database": "Reactome", "id": "R-HSA-170660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170660" } ], "reference": [ { "type": "PubMed", "id": "11832410", "url": "https://glygen.org/publication/PubMed/11832410" } ] }, { "title": "S111N mutation in the helical domain of human Gs(alpha) reduces its GDP/GTP exchange rate.", "journal": "Journal of cellular biochemistry", "date": "2002", "authors": "Brito M, Guzman L, Romo X, Soto X, Hinrichs MV, Olate J", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "11968001", "url": "https://glygen.org/publication/PubMed/11968001" } ] }, { "title": "In vitro folding, functional characterization, and disulfide pattern of the extracellular domain of human GLP-1 receptor.", "journal": "Biophysical chemistry", "date": "2002", "authors": "Bazarsuren A, Grauschopf U, Wozny M, Reusch D, Hoffmann E, Schaefer W, Panzner S, Rudolph R", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "12034449", "url": "https://glygen.org/publication/PubMed/12034449" } ] }, { "title": "Selective inhibition of heterotrimeric Gs signaling. Targeting the receptor-G protein interface using a peptide minigene encoding the Galpha(s) carboxyl terminus.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Feldman DS, Zamah AM, Pierce KL, Miller WE, Kelly F, Rapacciuolo A, Rockman HA, Koch WJ, Luttrell LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12036966", "url": "https://glygen.org/publication/PubMed/12036966" } ] }, { "title": "Mechanism of Galpha i-mediated inhibition of type V adenylyl cyclase.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Dessauer CW, Chen-Goodspeed M, Chen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12058044", "url": "https://glygen.org/publication/PubMed/12058044" } ] }, { "title": "Similarities and differences in the coupling of human beta1- and beta2-adrenoceptors to Gs(alpha) splice variants.", "journal": "Biochemical pharmacology", "date": "2002", "authors": "Wenzel-Seifert K, Liu HY, Seifert R", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12106601", "url": "https://glygen.org/publication/PubMed/12106601" } ] }, { "title": "Opsonization modulates Rac-1 activation during cell entry by Leishmania amazonensis.", "journal": "Infection and immunity", "date": "2002", "authors": "Morehead J, Coppens I, Andrews NW", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "12117970", "url": "https://glygen.org/publication/PubMed/12117970" } ] }, { "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-418597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597" } ], "reference": [ { "type": "PubMed", "id": "12120503", "url": "https://glygen.org/publication/PubMed/12120503" } ] }, { "title": "The pharmacology of cilostazol.", "journal": "Diabetes, obesity & metabolism", "date": "2002", "authors": "Schror K", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12180353", "url": "https://glygen.org/publication/PubMed/12180353" } ] }, { "title": "Protein kinase A translocation and insulin secretion in pancreatic beta-cells: studies with adenylate cyclase toxin from Bordetella pertussis.", "journal": "The Biochemical journal", "date": "2002", "authors": "Gao Z, Young RA, Trucco MM, Greene SR, Hewlett EL, Matschinsky FM, Wolf BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "12180908", "url": "https://glygen.org/publication/PubMed/12180908" } ] }, { "title": "Patched acts catalytically to suppress the activity of Smoothened.", "journal": "Nature", "date": "2002", "authors": "Taipale J, Cooper MK, Maiti T, Beachy PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "12192414", "url": "https://glygen.org/publication/PubMed/12192414" } ] }, { "title": "The role of putative phosphorylation sites in the targeting and shuttling of the aquaporin-2 water channel.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "van Balkom BW, Savelkoul PJ, Markovich D, Hofman E, Nielsen S, van der Sluijs P, Deen PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "12194985", "url": "https://glygen.org/publication/PubMed/12194985" } ] }, { "title": "Piccolo, a Ca2+ sensor in pancreatic beta-cells. Involvement of cAMP-GEFII.Rim2. Piccolo complex in cAMP-dependent exocytosis.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fujimoto K, Shibasaki T, Yokoi N, Kashima Y, Matsumoto M, Sasaki T, Tajima N, Iwanaga T, Seino S", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "12401793", "url": "https://glygen.org/publication/PubMed/12401793" } ] }, { "title": "Glucagon-like peptide-1 mobilizes intracellular Ca2+ and stimulates mitochondrial ATP synthesis in pancreatic MIN6 beta-cells.", "journal": "The Biochemical journal", "date": "2003", "authors": "Tsuboi T, da Silva Xavier G, Holz GG, Jouaville LS, Thomas AP, Rutter GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "12410638", "url": "https://glygen.org/publication/PubMed/12410638" } ] }, { "title": "Phosphorylation of Tyr342 in the linker region of Syk is critical for Fc epsilon RI signaling in mast cells.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Zhang J, Berenstein E, Siraganian RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "12417718", "url": "https://glygen.org/publication/PubMed/12417718" } ] }, { "title": "Ski is involved in transcriptional regulation by the repressor and full-length forms of Gli3.", "journal": "Genes & development", "date": "2002", "authors": "Dai P, Shinagawa T, Nomura T, Harada J, Kaul SC, Wadhwa R, Khan MM, Akimaru H, Sasaki H, Colmenares C, Ishii S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "12435627", "url": "https://glygen.org/publication/PubMed/12435627" } ] }, { "title": "The multiple actions of GLP-1 on the process of glucose-stimulated insulin secretion.", "journal": "Diabetes", "date": "2002", "authors": "MacDonald PE, El-Kholy W, Riedel MJ, Salapatek AM, Light PE, Wheeler MB", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "12475787", "url": "https://glygen.org/publication/PubMed/12475787" } ] }, { "title": "Epac-selective cAMP analog 8-pCPT-2'-O-Me-cAMP as a stimulus for Ca2+-induced Ca2+ release and exocytosis in pancreatic beta-cells.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Kang G, Joseph JW, Chepurny OG, Monaco M, Wheeler MB, Bos JL, Schwede F, Genieser HG, Holz GG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "12496249", "url": "https://glygen.org/publication/PubMed/12496249" } ] }, { "title": "Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms.", "journal": "J. Recept. Signal Transduct.", "date": "2002", "authors": "Ludwig MG, Seuwen K", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "reference": [ { "type": "PubMed", "id": "12503609", "url": "https://glygen.org/publication/PubMed/12503609" } ] }, { "title": "Interleukin-10 therapy--review of a new approach.", "journal": "Pharmacological reviews", "date": "2003", "authors": "Asadullah K, Sterry W, Volk HD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "12773629", "url": "https://glygen.org/publication/PubMed/12773629" } ] }, { "title": "Distribution of aquaporin water channels AQP1 and AQP5 in the ductal system of the human pancreas.", "journal": "Gut", "date": "2003", "authors": "Burghardt B, Elkaer ML, Kwon TH, Racz GZ, Varga G, Steward MC, Nielsen S", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "12801959", "url": "https://glygen.org/publication/PubMed/12801959" } ] }, { "title": "Characterization of the 5-HT6 receptor coupled to Ca2+ signaling using an enabling chimeric G-protein.", "journal": "European journal of pharmacology", "date": "2003", "authors": "Zhang JY, Nawoschik S, Kowal D, Smith D, Spangler T, Ochalski R, Schechter L, Dunlop J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "12860470", "url": "https://glygen.org/publication/PubMed/12860470" } ] }, { "title": "Identification of an IQGAP1/AKAP79 complex in beta-cells.", "journal": "Journal of cellular biochemistry", "date": "2003", "authors": "Nauert JB, Rigas JD, Lester LB", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "12938160", "url": "https://glygen.org/publication/PubMed/12938160" } ] }, { "title": "Molecular cloning and expression of an adenosine A2b receptor from human brain.", "journal": "Biochemical and biophysical research communications", "date": "1992", "authors": "Pierce KD, Furlong TJ, Selbie LA, Shine J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9660821", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660821" } ], "reference": [ { "type": "PubMed", "id": "1325798", "url": "https://glygen.org/publication/PubMed/1325798" } ] }, { "title": "Gz-mediated hormonal inhibition of cyclic AMP accumulation.", "journal": "Science (New York, N.Y.)", "date": "1992", "authors": "Wong YH, Conklin BR, Bourne HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-418597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597" } ], "reference": [ { "type": "PubMed", "id": "1347957", "url": "https://glygen.org/publication/PubMed/1347957" } ] }, { "title": "Fractionation and characterization of a cyclic adenine ribonucleotide formed by tissue particles.", "journal": "The Journal of biological chemistry", "date": "1958", "authors": "SUTHERLAND EW, RALL TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "13549488", "url": "https://glygen.org/publication/PubMed/13549488" } ] }, { "title": "Type VIII adenylyl cyclase in rat beta cells: coincidence signal detector/generator for glucose and GLP-1.", "journal": "Diabetologia", "date": "2003", "authors": "Delmeire D, Flamez D, Hinke SA, Cali JJ, Pipeleers D, Schuit F", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "13680124", "url": "https://glygen.org/publication/PubMed/13680124" } ] }, { "title": "Activation of Fc gamma RII induces tyrosine phosphorylation of multiple proteins including Fc gamma RII.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Huang MM, Indik Z, Brass LF, Hoxie JA, Schreiber AD, Brugge JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "1372004", "url": "https://glygen.org/publication/PubMed/1372004" } ] }, { "title": "Appearance of water channels in Xenopus oocytes expressing red cell CHIP28 protein.", "journal": "Science (New York, N.Y.)", "date": "1992", "authors": "Preston GM, Carroll TP, Guggino WB, Agre P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "1373524", "url": "https://glygen.org/publication/PubMed/1373524" } ] }, { "title": "Inhibition of insulin secretion via distinct signaling pathways in alpha2-adrenoceptor knockout mice.", "journal": "European journal of endocrinology", "date": "2003", "authors": "Peterhoff M, Sieg A, Brede M, Chao CM, Hein L, Ullrich S", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "14514350", "url": "https://glygen.org/publication/PubMed/14514350" } ] }, { "title": "Aquaporin expression in normal human kidney and in renal disease.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2003", "authors": "Bedford JJ, Leader JP, Walker RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "14514735", "url": "https://glygen.org/publication/PubMed/14514735" } ] }, { "title": "Expression of the AQP-1 water channel in normal human tissues: a semiquantitative study using tissue microarray technology.", "journal": "American journal of physiology. Cell physiology", "date": "2004", "authors": "Mobasheri A, Marples D", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "14592814", "url": "https://glygen.org/publication/PubMed/14592814" } ] }, { "title": "Hedgehog signalling in the mouse requires intraflagellar transport proteins.", "journal": "Nature", "date": "2003", "authors": "Huangfu D, Liu A, Rakeman AS, Murcia NS, Niswander L, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "14603322", "url": "https://glygen.org/publication/PubMed/14603322" } ] }, { "title": "Insights into G protein structure, function, and regulation.", "journal": "Endocrine reviews", "date": "2003", "authors": "Cabrera-Vera TM, Vanhauwe J, Thomas TO, Medkova M, Preininger A, Mazzoni MR, Hamm HE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "14671004", "url": "https://glygen.org/publication/PubMed/14671004" } ] }, { "title": "17beta-estradiol inhibits oxidative stress-induced apoptosis in keratinocytes by promoting Bcl-2 expression.", "journal": "The Journal of investigative dermatology", "date": "2003", "authors": "Kanda N, Watanabe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "14675202", "url": "https://glygen.org/publication/PubMed/14675202" } ] }, { "title": "Aquaporin-1, nothing but a water channel.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Tsunoda SP, Wiesner B, Lorenz D, Rosenthal W, Pohl P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "14701836", "url": "https://glygen.org/publication/PubMed/14701836" } ] }, { "title": "Expression of voltage-gated potassium channels in human and rhesus pancreatic islets.", "journal": "Diabetes", "date": "2004", "authors": "Yan L, Figueroa DJ, Austin CP, Liu Y, Bugianesi RM, Slaughter RS, Kaczorowski GJ, Kohler MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "14988243", "url": "https://glygen.org/publication/PubMed/14988243" } ] }, { "title": "Expression of the PTCH1 tumor suppressor gene is regulated by alternative promoters and a single functional Gli-binding site.", "journal": "Gene", "date": "2004", "authors": "Agren M, Kogerman P, Kleman MI, Wessling M, Toftgard R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "15087129", "url": "https://glygen.org/publication/PubMed/15087129" } ] }, { "title": "Reconstitution of functional water channels in liposomes containing purified red cell CHIP28 protein.", "journal": "Biochemistry", "date": "1992", "authors": "Zeidel ML, Ambudkar SV, Smith BL, Agre P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "1510932", "url": "https://glygen.org/publication/PubMed/1510932" } ] }, { "title": "Mechanism of tyrosine phosphorylation and activation of phospholipase C-gamma 1. Tyrosine 783 phosphorylation is not sufficient for lipase activation.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Sekiya F, Poulin B, Kim YJ, Rhee SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "15161916", "url": "https://glygen.org/publication/PubMed/15161916" } ] }, { "title": "Beta-arrestin2, a novel member of the arrestin/beta-arrestin gene family.", "journal": "The Journal of biological chemistry", "date": "1992", "authors": "Attramadal H, Arriza JL, Aoki C, Dawson TM, Codina J, Kwatra MM, Snyder SH, Caron MG, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "1517224", "url": "https://glygen.org/publication/PubMed/1517224" } ] }, { "title": "17beta-estradiol stimulates the growth of human keratinocytes by inducing cyclin D2 expression.", "journal": "The Journal of investigative dermatology", "date": "2004", "authors": "Kanda N, Watanabe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "15245432", "url": "https://glygen.org/publication/PubMed/15245432" } ] }, { "title": "Molecular cloning of the receptor for human antidiuretic hormone.", "journal": "Nature", "date": "1992", "authors": "Birnbaumer M, Seibold A, Gilbert S, Ishido M, Barberis C, Antaramian A, Brabet P, Rosenthal W", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "1534149", "url": "https://glygen.org/publication/PubMed/1534149" } ] }, { "title": "Raf kinase activation of adenylyl cyclases: isoform-selective regulation.", "journal": "Molecular pharmacology", "date": "2004", "authors": "Ding Q, Gros R, Gray ID, Taussig R, Ferguson SS, Feldman RD", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "reference": [ { "type": "PubMed", "id": "15385642", "url": "https://glygen.org/publication/PubMed/15385642" } ] }, { "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-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "15539556", "url": "https://glygen.org/publication/PubMed/15539556" } ] }, { "title": "Glucagon-like peptide-1: regulation of insulin secretion and therapeutic potential.", "journal": "Basic & clinical pharmacology & toxicology", "date": "2004", "authors": "Gromada J, Brock B, Schmitz O, Rorsman P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "15569269", "url": "https://glygen.org/publication/PubMed/15569269" } ] }, { "title": "Distribution of AQP2 and AQP3 water channels in human tissue microarrays.", "journal": "Journal of molecular histology", "date": "2005", "authors": "Mobasheri A, Wray S, Marples D", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "15703994", "url": "https://glygen.org/publication/PubMed/15703994" } ] }, { "title": "A transmembrane intracellular estrogen receptor mediates rapid cell signaling.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Revankar CM, Cimino DF, Sklar LA, Arterburn JB, Prossnitz ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "15705806", "url": "https://glygen.org/publication/PubMed/15705806" } ] }, { "title": "Effects of piclamilast, a selective phosphodiesterase-4 inhibitor, on oxidative burst of sputum cells from mild asthmatics and stable COPD patients.", "journal": "Lung", "date": "2004", "authors": "Beeh KM, Beier J, Lerch C, Schulz AK, Buhl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "15765929", "url": "https://glygen.org/publication/PubMed/15765929" } ] }, { "title": "Cyclic nucleotide phosphodiesterase-mediated integration of cGMP and cAMP signaling in cells of the cardiovascular system.", "journal": "Frontiers in bioscience : a journal and virtual library", "date": "2005", "authors": "Maurice DH", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "15769620", "url": "https://glygen.org/publication/PubMed/15769620" } ] }, { "title": "Control of infection with Leishmania major in susceptible BALB/c mice lacking the common gamma-chain for FcR is associated with reduced production of IL-10 and TGF-beta by parasitized cells.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2005", "authors": "Padigel UM, Farrell JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "15879134", "url": "https://glygen.org/publication/PubMed/15879134" } ] }, { "title": "Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors.", "journal": "Development (Cambridge, England)", "date": "2005", "authors": "Liu A, Wang B, Niswander LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "15930098", "url": "https://glygen.org/publication/PubMed/15930098" } ] }, { "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-418597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597" } ], "reference": [ { "type": "PubMed", "id": "15951850", "url": "https://glygen.org/publication/PubMed/15951850" } ] }, { "title": "A novel mechanism for the suppression of a voltage-gated potassium channel by glucose-dependent insulinotropic polypeptide: protein kinase A-dependent endocytosis.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Kim SJ, Choi WS, Han JS, Warnock G, Fedida D, McIntosh CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "15955806", "url": "https://glygen.org/publication/PubMed/15955806" } ] }, { "title": "The Rap-B-Raf signalling pathway is activated by glucose and glucagon-like peptide-1 in human islet cells.", "journal": "Diabetologia", "date": "2005", "authors": "Trumper J, Ross D, Jahr H, Brendel MD, Goke R, Horsch D", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "15995848", "url": "https://glygen.org/publication/PubMed/15995848" } ] }, { "title": "Cilia and Hedgehog responsiveness in the mouse.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Huangfu D, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16061793", "url": "https://glygen.org/publication/PubMed/16061793" } ] }, { "title": "Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.", "journal": "Journal of the American Society of Nephrology : JASN", "date": "2005", "authors": "de Mattia F, Savelkoul PJ, Kamsteeg EJ, Konings IB, van der Sluijs P, Mallmann R, Oksche A, Deen PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "16120822", "url": "https://glygen.org/publication/PubMed/16120822" } ] }, { "title": "Vertebrate Smoothened functions at the primary cilium.", "journal": "Nature", "date": "2005", "authors": "Corbit KC, Aanstad P, Singla V, Norman AR, Stainier DY, Reiter JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16136078", "url": "https://glygen.org/publication/PubMed/16136078" } ] }, { "title": "Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli.", "journal": "Developmental biology", "date": "2005", "authors": "May SR, Ashique AM, Karlen M, Wang B, Shen Y, Zarbalis K, Reiter J, Ericson J, Peterson AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16229832", "url": "https://glygen.org/publication/PubMed/16229832" } ] }, { "title": "Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function.", "journal": "PLoS genetics", "date": "2005", "authors": "Haycraft CJ, Banizs B, Aydin-Son Y, Zhang Q, Michaud EJ, Yoder BK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16254602", "url": "https://glygen.org/publication/PubMed/16254602" } ] }, { "title": "Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.", "journal": "Nature genetics", "date": "2006", "authors": "Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, Dolle P, Franco B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16311594", "url": "https://glygen.org/publication/PubMed/16311594" } ] }, { "title": "Preferential inhibition of human phosphodiesterase 4 by ibudilast.", "journal": "Life sciences", "date": "2006", "authors": "Huang Z, Liu S, Zhang L, Salem M, Greig GM, Chan CC, Natsumeda Y, Noguchi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "16313925", "url": "https://glygen.org/publication/PubMed/16313925" } ] }, { "title": "Signaling from Smo to Ci/Gli: conservation and divergence of Hedgehog pathways from Drosophila to vertebrates.", "journal": "Development (Cambridge, England)", "date": "2006", "authors": "Huangfu D, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16339192", "url": "https://glygen.org/publication/PubMed/16339192" } ] }, { "title": "Heterotrimeric G proteins precouple with G protein-coupled receptors in living cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Nobles M, Benians A, Tinker A", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "16352729", "url": "https://glygen.org/publication/PubMed/16352729" } ] }, { "title": "Gialpha and Gbeta subunits both define selectivity of G protein activation by alpha2-adrenergic receptors.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Gibson SK, Gilman AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "16371464", "url": "https://glygen.org/publication/PubMed/16371464" } ] }, { "title": "GPCR-induced dissociation of G-protein subunits in early stage signal transduction.", "journal": "Molecular membrane biology", "date": "2005", "authors": "Leifert WR, Aloia AL, Bucco O, McMurchie EJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "16373322", "url": "https://glygen.org/publication/PubMed/16373322" } ] }, { "title": "GLI3-dependent transcriptional repression of Gli1, Gli2 and kidney patterning genes disrupts renal morphogenesis.", "journal": "Development (Cambridge, England)", "date": "2006", "authors": "Hu MC, Mo R, Bhella S, Wilson CW, Chuang PT, Hui CC, Rosenblum ND", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16396903", "url": "https://glygen.org/publication/PubMed/16396903" } ] }, { "title": "Dynamic binding of PKA regulatory subunit RI alpha.", "journal": "Structure (London, England : 1993)", "date": "2006", "authors": "Gullingsrud J, Kim C, Taylor SS, McCammon JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "16407073", "url": "https://glygen.org/publication/PubMed/16407073" } ] }, { "title": "Point mutations in the aromatic/arginine region in aquaporin 1 allow passage of urea, glycerol, ammonia, and protons.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Beitz E, Wu B, Holm LM, Schultz JE, Zeuthen T", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "16407156", "url": "https://glygen.org/publication/PubMed/16407156" } ] }, { "title": "Two peptides from the alpha 2A-adrenergic receptor alter receptor G protein coupling by distinct mechanisms.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Dalman HM, Neubig RR", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "1645720", "url": "https://glygen.org/publication/PubMed/1645720" } ] }, { "title": "Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling.", "journal": "Nature genetics", "date": "2006", "authors": "Park TJ, Haigo SL, Wallingford JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16493421", "url": "https://glygen.org/publication/PubMed/16493421" } ] }, { "title": "Multiple Gi protein subtypes regulate a single effector mechanism.", "journal": "Molecular pharmacology", "date": "1991", "authors": "Gerhardt MA, Neubig RR", "evidence": [ { "database": "Reactome", "id": "R-HSA-170670", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170670" } ], "reference": [ { "type": "PubMed", "id": "1658606", "url": "https://glygen.org/publication/PubMed/1658606" } ] }, { "title": "The role of calmodulin recruitment in Ca2+ stimulation of adenylyl cyclase type 8.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Simpson RE, Ciruela A, Cooper DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-163615", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163615" } ], "reference": [ { "type": "PubMed", "id": "16613843", "url": "https://glygen.org/publication/PubMed/16613843" } ] }, { "title": "cAMP sensor Epac as a determinant of ATP-sensitive potassium channel activity in human pancreatic beta cells and rat INS-1 cells.", "journal": "The Journal of physiology", "date": "2006", "authors": "Kang G, Chepurny OG, Malester B, Rindler MJ, Rehmann H, Bos JL, Schwede F, Coetzee WA, Holz GG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "16613879", "url": "https://glygen.org/publication/PubMed/16613879" } ] }, { "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": "Nature of functional estrogen receptors at the plasma membrane.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2006", "authors": "Pedram A, Razandi M, Levin ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "16645038", "url": "https://glygen.org/publication/PubMed/16645038" } ] }, { "title": "G-protein-coupled receptor kinase specificity for beta-arrestin recruitment to the beta2-adrenergic receptor revealed by fluorescence resonance energy transfer.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Violin JD, Ren XR, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "16687412", "url": "https://glygen.org/publication/PubMed/16687412" } ] }, { "title": "Oxysterols stimulate Sonic hedgehog signal transduction and proliferation of medulloblastoma cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Corcoran RB, Scott MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "16707575", "url": "https://glygen.org/publication/PubMed/16707575" } ] }, { "title": "Differential kinase requirements in human and mouse Fc-gamma receptor phagocytosis and endocytosis.", "journal": "Journal of leukocyte biology", "date": "2006", "authors": "Huang ZY, Barreda DR, Worth RG, Indik ZK, Kim MK, Chien P, Schreiber AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "16921024", "url": "https://glygen.org/publication/PubMed/16921024" } ] }, { "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-418597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597" } ], "reference": [ { "type": "PubMed", "id": "16923326", "url": "https://glygen.org/publication/PubMed/16923326" } ] }, { "title": "Cell physiology of cAMP sensor Epac.", "journal": "The Journal of physiology", "date": "2006", "authors": "Holz GG, Kang G, Harbeck M, Roe MW, Chepurny OG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "16973695", "url": "https://glygen.org/publication/PubMed/16973695" } ] }, { "title": "Hippi is essential for node cilia assembly and Sonic hedgehog signaling.", "journal": "Developmental biology", "date": "2006", "authors": "Houde C, Dickinson RJ, Houtzager VM, Cullum R, Montpetit R, Metzler M, Simpson EM, Roy S, Hayden MR, Hoodless PA, Nicholson DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17027958", "url": "https://glygen.org/publication/PubMed/17027958" } ] }, { "title": "Some G protein heterotrimers physically dissociate in living cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Digby GJ, Lober RM, Sethi PR, Lambert NA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "17095603", "url": "https://glygen.org/publication/PubMed/17095603" } ] }, { "title": "A Role of myosin Vb and Rab11-FIP2 in the aquaporin-2 shuttle.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2007", "authors": "Nedvetsky PI, Stefan E, Frische S, Santamaria K, Wiesner B, Valenti G, Hammer JA 3rd, Nielsen S, Goldenring JR, Rosenthal W, Klussmann E", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "17156409", "url": "https://glygen.org/publication/PubMed/17156409" } ] }, { "title": "Phosphodiesterase 4 inhibitors for the treatment of asthma and COPD.", "journal": "Current medicinal chemistry", "date": "2006", "authors": "Huang Z, Mancini JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "17168849", "url": "https://glygen.org/publication/PubMed/17168849" } ] }, { "title": "Identification of arylsulfonamides as Aquaporin 4 inhibitors.", "journal": "Bioorganic & medicinal chemistry letters", "date": "2007", "authors": "Huber VJ, Tsujita M, Yamazaki M, Sakimura K, Nakada T", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "17178220", "url": "https://glygen.org/publication/PubMed/17178220" } ] }, { "title": "Oxysterols are novel activators of the hedgehog signaling pathway in pluripotent mesenchymal cells.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Dwyer JR, Sever N, Carlson M, Nelson SF, Beachy PA, Parhami F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17200122", "url": "https://glygen.org/publication/PubMed/17200122" } ] }, { "title": "Mediation of adenylyl cyclase sensitization by PTX-insensitive GalphaoA, Galphai1, Galphai2 or Galphai3.", "journal": "Journal of neurochemistry", "date": "2006", "authors": "Clark MJ, Traynor JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-170670", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170670" } ], "reference": [ { "type": "PubMed", "id": "17230639", "url": "https://glygen.org/publication/PubMed/17230639" } ] }, { "title": "Mechanisms of action of glucagon-like peptide 1 in the pancreas.", "journal": "Pharmacology & therapeutics", "date": "2007", "authors": "Doyle ME, Egan JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "17306374", "url": "https://glygen.org/publication/PubMed/17306374" } ] }, { "title": "Activation of the novel estrogen receptor G protein-coupled receptor 30 (GPR30) at the plasma membrane.", "journal": "Endocrinology", "date": "2007", "authors": "Filardo E, Quinn J, Pang Y, Graeber C, Shaw S, Dong J, Thomas P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "17379646", "url": "https://glygen.org/publication/PubMed/17379646" } ] }, { "title": "Genomic characterization of Gli-activator targets in sonic hedgehog-mediated neural patterning.", "journal": "Development (Cambridge, England)", "date": "2007", "authors": "Vokes SA, Ji H, McCuine S, Tenzen T, Giles S, Zhong S, Longabaugh WJ, Davidson EH, Wong WH, McMahon AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17442700", "url": "https://glygen.org/publication/PubMed/17442700" } ] }, { "title": "Differential structural properties of GLP-1 and exendin-4 determine their relative affinity for the GLP-1 receptor N-terminal extracellular domain.", "journal": "Biochemistry", "date": "2007", "authors": "Runge S, Schimmer S, Oschmann J, Schiodt CB, Knudsen SM, Jeppesen CB, Madsen K, Lau J, Thogersen H, Rudolph R", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "17444618", "url": "https://glygen.org/publication/PubMed/17444618" } ] }, { "title": "Ftm is a novel basal body protein of cilia involved in Shh signalling.", "journal": "Development (Cambridge, England)", "date": "2007", "authors": "Vierkotten J, Dildrop R, Peters T, Wang B, Ruther U", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17553904", "url": "https://glygen.org/publication/PubMed/17553904" } ] }, { "title": "Patched1 regulates hedgehog signaling at the primary cilium.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Rohatgi R, Milenkovic L, Scott MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17641202", "url": "https://glygen.org/publication/PubMed/17641202" } ] }, { "title": "Patching the gaps in Hedgehog signalling.", "journal": "Nature cell biology", "date": "2007", "authors": "Rohatgi R, Scott MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17762891", "url": "https://glygen.org/publication/PubMed/17762891" } ] }, { "title": "G-protein-coupled receptors and islet function-implications for treatment of type 2 diabetes.", "journal": "Pharmacology & therapeutics", "date": "2007", "authors": "Winzell MS, Ahren B", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "17900700", "url": "https://glygen.org/publication/PubMed/17900700" } ] }, { "title": "Hedgehog regulates smoothened activity by inducing a conformational switch.", "journal": "Nature", "date": "2007", "authors": "Zhao Y, Tong C, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "17960137", "url": "https://glygen.org/publication/PubMed/17960137" } ] }, { "title": "PDE4 inhibitors as potential therapeutic agents in the treatment of COPD-focus on roflumilast.", "journal": "International journal of chronic obstructive pulmonary disease", "date": "2007", "authors": "Boswell-Smith V, Spina D", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "18044684", "url": "https://glygen.org/publication/PubMed/18044684" } ] }, { "title": "FcgammaRIII mediates immunoglobulin G-induced interleukin-10 and is required for chronic Leishmania mexicana lesions.", "journal": "Infection and immunity", "date": "2008", "authors": "Thomas BN, Buxbaum LU", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "18070890", "url": "https://glygen.org/publication/PubMed/18070890" } ] }, { "title": "Both G i and G o heterotrimeric G proteins are required to exert the full effect of norepinephrine on the beta-cell K ATP channel.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Zhao Y, Fang Q, Straub SG, Sharp GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "18162464", "url": "https://glygen.org/publication/PubMed/18162464" } ] }, { "title": "Role of the cAMP sensor Epac as a determinant of KATP channel ATP sensitivity in human pancreatic beta-cells and rat INS-1 cells.", "journal": "The Journal of physiology", "date": "2008", "authors": "Kang G, Leech CA, Chepurny OG, Coetzee WA, Holz GG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "18202100", "url": "https://glygen.org/publication/PubMed/18202100" } ] }, { "title": "Mechanism of selectivity in aquaporins and aquaglyceroporins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Hub JS, de Groot BL", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "18202181", "url": "https://glygen.org/publication/PubMed/18202181" } ] }, { "title": "Crystal structure of the ligand-bound glucagon-like peptide-1 receptor extracellular domain.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Runge S, Thogersen H, Madsen K, Lau J, Rudolph R", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "18287102", "url": "https://glygen.org/publication/PubMed/18287102" } ] }, { "title": "THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia.", "journal": "Nature genetics", "date": "2008", "authors": "Tran PV, Haycraft CJ, Besschetnova TY, Turbe-Doan A, Stottmann RW, Herron BJ, Chesebro AL, Qiu H, Scherz PJ, Shah JV, Yoder BK, Beier DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "18327258", "url": "https://glygen.org/publication/PubMed/18327258" } ] }, { "title": "Design and synthesis of conformationally constrained glucagon-like peptide-1 derivatives with increased plasma stability and prolonged in vivo activity.", "journal": "Journal of medicinal chemistry", "date": "2008", "authors": "Miranda LP, Winters KA, Gegg CV, Patel A, Aral J, Long J, Zhang J, Diamond S, Guido M, Stanislaus S, Ma M, Li H, Rose MJ, Poppe L, Veniant MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "18412318", "url": "https://glygen.org/publication/PubMed/18412318" } ] }, { "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-418597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597" } ], "reference": [ { "type": "PubMed", "id": "18434541", "url": "https://glygen.org/publication/PubMed/18434541" } ] }, { "title": "Application of active and kinase-deficient kinome collection for identification of kinases regulating hedgehog signaling.", "journal": "Cell", "date": "2008", "authors": "Varjosalo M, Bjorklund M, Cheng F, Syvanen H, Kivioja T, Kilpinen S, Sun Z, Kallioniemi O, Stunnenberg HG, He WW, Ojala P, Taipale J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "18455992", "url": "https://glygen.org/publication/PubMed/18455992" } ] }, { "title": "Functional interactions of recombinant alpha 2 adrenergic receptor subtypes and G proteins in reconstituted phospholipid vesicles.", "journal": "Biochemistry", "date": "1991", "authors": "Kurose H, Regan JW, Caron MG, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "1849000", "url": "https://glygen.org/publication/PubMed/1849000" } ] }, { "title": "Novel variants in human Aquaporin-4 reduce cellular water permeability.", "journal": "Human molecular genetics", "date": "2008", "authors": "Sorani MD, Zador Z, Hurowitz E, Yan D, Giacomini KM, Manley GT", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "18511455", "url": "https://glygen.org/publication/PubMed/18511455" } ] }, { "title": "G protein-coupled receptor 30 localizes to the endoplasmic reticulum and is not activated by estradiol.", "journal": "Endocrinology", "date": "2008", "authors": "Otto C, Rohde-Schulz B, Schwarz G, Fuchs I, Klewer M, Brittain D, Langer G, Bader B, Prelle K, Nubbemeyer R, Fritzemeier KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "18566127", "url": "https://glygen.org/publication/PubMed/18566127" } ] }, { "title": "Dissociation of heterotrimeric g proteins in cells.", "journal": "Science signaling", "date": "2008", "authors": "Lambert NA", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "18577758", "url": "https://glygen.org/publication/PubMed/18577758" } ] }, { "title": "Compartmentalization of aquaporins in the human intestine.", "journal": "International journal of environmental research and public health", "date": "2008", "authors": "Cohly HH, Isokpehi R, Rajnarayanan RV", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "18678926", "url": "https://glygen.org/publication/PubMed/18678926" } ] }, { "title": "Molecular mechanism of the Syk activation switch.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Tsang E, Giannetti AM, Shaw D, Dinh M, Tse JK, Gandhi S, Ho H, Wang S, Papp E, Bradshaw JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "18818202", "url": "https://glygen.org/publication/PubMed/18818202" } ] }, { "title": "A genome-scale analysis of the cis-regulatory circuitry underlying sonic hedgehog-mediated patterning of the mammalian limb.", "journal": "Genes & development", "date": "2008", "authors": "Vokes SA, Ji H, Wong WH, McMahon AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "18832070", "url": "https://glygen.org/publication/PubMed/18832070" } ] }, { "title": "Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4.", "journal": "Developmental biology", "date": "2009", "authors": "Cortellino S, Wang C, Wang B, Bassi MR, Caretti E, Champeval D, Calmont A, Jarnik M, Burch J, Zaret KS, Larue L, Bellacosa A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19000668", "url": "https://glygen.org/publication/PubMed/19000668" } ] }, { "title": "The efficacy and safety of cilomilast in COPD.", "journal": "Drugs", "date": "2008", "authors": "Rennard S, Knobil K, Rabe KF, Morris A, Schachter N, Locantore N, Canonica WG, Zhu Y, Barnhart F", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "19105585", "url": "https://glygen.org/publication/PubMed/19105585" } ] }, { "title": "Role of multiple phosphorylation sites in the COOH-terminal tail of aquaporin-2 for water transport: evidence against channel gating.", "journal": "American journal of physiology. Renal physiology", "date": "2009", "authors": "Moeller HB, MacAulay N, Knepper MA, Fenton RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "19144687", "url": "https://glygen.org/publication/PubMed/19144687" } ] }, { "title": "Distribution of the AQP4 water channel in normal human tissues: protein and tissue microarrays reveal expression in several new anatomical locations, including the prostate gland and seminal vesicles.", "journal": "Channels (Austin, Tex.)", "date": "2007", "authors": "Mobasheri A, Marples D, Young IS, Floyd RV, Moskaluk CA, Frigeri A", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "19170255", "url": "https://glygen.org/publication/PubMed/19170255" } ] }, { "title": "Selective translocation of intracellular Smoothened to the primary cilium in response to Hedgehog pathway modulation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Wang Y, Zhou Z, Walsh CT, McMahon AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19196978", "url": "https://glygen.org/publication/PubMed/19196978" } ] }, { "title": "Mouse hitchhiker mutants have spina bifida, dorso-ventral patterning defects and polydactyly: identification of Tulp3 as a novel negative regulator of the Sonic hedgehog pathway.", "journal": "Human molecular genetics", "date": "2009", "authors": "Patterson VL, Damrau C, Paudyal A, Reeve B, Grimes DT, Stewart ME, Williams DJ, Siggers P, Greenfield A, Murdoch JN", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19223390", "url": "https://glygen.org/publication/PubMed/19223390" } ] }, { "title": "The c-terminus of GRK3 indicates rapid dissociation of G protein heterotrimers.", "journal": "Cellular signalling", "date": "2009", "authors": "Hollins B, Kuravi S, Digby GJ, Lambert NA", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "19258039", "url": "https://glygen.org/publication/PubMed/19258039" } ] }, { "title": "Tubby-like protein 3 (TULP3) regulates patterning in the mouse embryo through inhibition of Hedgehog signaling.", "journal": "Human molecular genetics", "date": "2009", "authors": "Norman RX, Ko HW, Huang V, Eun CM, Abler LL, Zhang Z, Sun X, Eggenschwiler JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19286674", "url": "https://glygen.org/publication/PubMed/19286674" } ] }, { "title": "Coordinate regulation of estrogen-mediated fibronectin matrix assembly and epidermal growth factor receptor transactivation by the G protein-coupled receptor, GPR30.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "2009", "authors": "Quinn JA, Graeber CT, Frackelton AR Jr, Kim M, Schwarzbauer JE, Filardo EJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "19342448", "url": "https://glygen.org/publication/PubMed/19342448" } ] }, { "title": "Smoothened adopts multiple active and inactive conformations capable of trafficking to the primary cilium.", "journal": "PloS one", "date": "2009", "authors": "Wilson CW, Chen MH, Chuang PT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19365551", "url": "https://glygen.org/publication/PubMed/19365551" } ] }, { "title": "Crystal structure of human aquaporin 4 at 1.8 A and its mechanism of conductance.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Ho JD, Yeh R, Sandstrom A, Chorny I, Harries WE, Robbins RA, Miercke LJ, Stroud RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "19383790", "url": "https://glygen.org/publication/PubMed/19383790" } ] }, { "title": "Phosphorylation of Gz in human platelets. Selectivity and site of modification.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Lounsbury KM, Casey PJ, Brass LF, Manning DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-418597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597" } ], "reference": [ { "type": "PubMed", "id": "1939224", "url": "https://glygen.org/publication/PubMed/1939224" } ] }, { "title": "The kinesin protein Kif7 is a critical regulator of Gli transcription factors in mammalian hedgehog signaling.", "journal": "Science signaling", "date": "2009", "authors": "Cheung HO, Zhang X, Ribeiro A, Mo R, Makino S, Puviindran V, Law KK, Briscoe J, Hui CC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19549984", "url": "https://glygen.org/publication/PubMed/19549984" } ] }, { "title": "Concerted action of two cation filters in the aquaporin water channel.", "journal": "The EMBO journal", "date": "2009", "authors": "Wu B, Steinbronn C, Alsterfjord M, Zeuthen T, Beitz E", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "19574955", "url": "https://glygen.org/publication/PubMed/19574955" } ] }, { "title": "The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development.", "journal": "Current biology : CB", "date": "2009", "authors": "Endoh-Yamagami S, Evangelista M, Wilson D, Wen X, Theunissen JW, Phamluong K, Davis M, Scales SJ, Solloway MJ, de Sauvage FJ, Peterson AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19592253", "url": "https://glygen.org/publication/PubMed/19592253" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "O95622-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O95622-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Liem KF Jr, He M, Ocbina PJ, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19666503", "url": "https://glygen.org/publication/PubMed/19666503" } ] }, { "title": "Estradiol-mediated ERK phosphorylation and apoptosis in vascular smooth muscle cells requires GPR 30.", "journal": "American journal of physiology. Cell physiology", "date": "2009", "authors": "Ding Q, Gros R, Limbird LE, Chorazyczewski J, Feldman RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "19741198", "url": "https://glygen.org/publication/PubMed/19741198" } ] }, { "title": "The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development.", "journal": "Nature cell biology", "date": "2009", "authors": "Gray RS, Abitua PB, Wlodarczyk BJ, Szabo-Rogers HL, Blanchard O, Lee I, Weiss GS, Liu KJ, Marcotte EM, Wallingford JB, Finnell RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19767740", "url": "https://glygen.org/publication/PubMed/19767740" } ] }, { "title": "A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.", "journal": "Human molecular genetics", "date": "2009", "authors": "Weatherbee SD, Niswander LA, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19776033", "url": "https://glygen.org/publication/PubMed/19776033" } ] }, { "title": "Functional characterization of N-terminally GFP-tagged GLP-1 receptor.", "journal": "Journal of biomedicine & biotechnology", "date": "2009", "authors": "Bavec A, Licar A", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "19859570", "url": "https://glygen.org/publication/PubMed/19859570" } ] }, { "title": "Crystal structure of glucagon-like peptide-1 in complex with the extracellular domain of the glucagon-like peptide-1 receptor.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Underwood CR, Garibay P, Knudsen LB, Hastrup S, Peters GH, Rudolph R, Reedtz-Runge S", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "19861722", "url": "https://glygen.org/publication/PubMed/19861722" } ] }, { "title": "AN-2728, a PDE4 inhibitor for the potential topical treatment of psoriasis and atopic dermatitis.", "journal": "Current opinion in investigational drugs (London, England : 2000)", "date": "2009", "authors": "Nazarian R, Weinberg JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "19876791", "url": "https://glygen.org/publication/PubMed/19876791" } ] }, { "title": "Planar cell polarity effector gene Fuzzy regulates cilia formation and Hedgehog signal transduction in mouse.", "journal": "Developmental dynamics : an official publication of the American Association of Anatomists", "date": "2009", "authors": "Heydeck W, Zeng H, Liu A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19877275", "url": "https://glygen.org/publication/PubMed/19877275" } ] }, { "title": "Patched regulates Smoothened trafficking using lipoprotein-derived lipids.", "journal": "Development (Cambridge, England)", "date": "2009", "authors": "Khaliullina H, Panakova D, Eugster C, Riedel F, Carvalho M, Eaton S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19906846", "url": "https://glygen.org/publication/PubMed/19906846" } ] }, { "title": "Ibudilast: a review of its pharmacology, efficacy and safety in respiratory and neurological disease.", "journal": "Expert opinion on pharmacotherapy", "date": "2009", "authors": "Rolan P, Hutchinson M, Johnson K", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "19929708", "url": "https://glygen.org/publication/PubMed/19929708" } ] }, { "title": "Conserved estrogen binding and signaling functions of the G protein-coupled estrogen receptor 1 (GPER) in mammals and fish.", "journal": "Steroids", "date": "2010", "authors": "Thomas P, Alyea R, Pang Y, Peyton C, Dong J, Berg AH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "19931550", "url": "https://glygen.org/publication/PubMed/19931550" } ] }, { "title": "Lateral transport of Smoothened from the plasma membrane to the membrane of the cilium.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Milenkovic L, Scott MP, Rohatgi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19948480", "url": "https://glygen.org/publication/PubMed/19948480" } ] }, { "title": "Gli2 trafficking links Hedgehog-dependent activation of Smoothened in the primary cilium to transcriptional activation in the nucleus.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "Kim J, Kato M, Beachy PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "19996169", "url": "https://glygen.org/publication/PubMed/19996169" } ] }, { "title": "PCP effector gene Inturned is an important regulator of cilia formation and embryonic development in mammals.", "journal": "Developmental biology", "date": "2010", "authors": "Zeng H, Hoover AN, Liu A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "20067783", "url": "https://glygen.org/publication/PubMed/20067783" } ] }, { "title": "Kinetics of hedgehog-dependent full-length Gli3 accumulation in primary cilia and subsequent degradation.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Wen X, Lai CK, Evangelista M, Hongo JA, de Sauvage FJ, Scales SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "20154143", "url": "https://glygen.org/publication/PubMed/20154143" } ] }, { "title": "Evaluating Smoothened as a G-protein-coupled receptor for Hedgehog signalling.", "journal": "Trends in cell biology", "date": "2010", "authors": "Ayers KL, Therond PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "20207148", "url": "https://glygen.org/publication/PubMed/20207148" } ] }, { "title": "The preclinical pharmacology of roflumilast--a selective, oral phosphodiesterase 4 inhibitor in development for chronic obstructive pulmonary disease.", "journal": "Pulmonary pharmacology & therapeutics", "date": "2010", "authors": "Hatzelmann A, Morcillo EJ, Lungarella G, Adnot S, Sanjar S, Beume R, Schudt C, Tenor H", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "20381629", "url": "https://glygen.org/publication/PubMed/20381629" } ] }, { "title": "The primary cilium: a signalling centre during vertebrate development.", "journal": "Nature reviews. Genetics", "date": "2010", "authors": "Goetz SC, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "20395968", "url": "https://glygen.org/publication/PubMed/20395968" } ] }, { "title": "Calcium-activated pathways and oxidative burst mediate zymosan-induced signaling and IL-10 production in human macrophages.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010", "authors": "Kelly EK, Wang L, Ivashkiv LB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "20400701", "url": "https://glygen.org/publication/PubMed/20400701" } ] }, { "title": "Small molecule modulation of HH-GLI signaling: current leads, trials and tribulations.", "journal": "Biochemical pharmacology", "date": "2010", "authors": "Mas C, Ruiz i Altaba A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "20412786", "url": "https://glygen.org/publication/PubMed/20412786" } ] }, { "title": "Hedgehog pathway-regulated gene networks in cerebellum development and tumorigenesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Lee EY, Ji H, Ouyang Z, Zhou B, Ma W, Vokes SA, McMahon AP, Wong WH, Scott MP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "20460306", "url": "https://glygen.org/publication/PubMed/20460306" } ] }, { "title": "G protein-coupled receptor kinase 2 promotes high-level Hedgehog signaling by regulating the active state of Smo through kinase-dependent and kinase-independent mechanisms in Drosophila.", "journal": "Genes & development", "date": "2010", "authors": "Chen Y, Li S, Tong C, Zhao Y, Wang B, Liu Y, Jia J, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "20844016", "url": "https://glygen.org/publication/PubMed/20844016" } ] }, { "title": "TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia.", "journal": "Genes & development", "date": "2010", "authors": "Mukhopadhyay S, Wen X, Chih B, Nelson CD, Lane WS, Scales SJ, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "20889716", "url": "https://glygen.org/publication/PubMed/20889716" } ] }, { "title": "A mechanism for vertebrate Hedgehog signaling: recruitment to cilia and dissociation of SuFu-Gli protein complexes.", "journal": "The Journal of cell biology", "date": "2010", "authors": "Tukachinsky H, Lopez LV, Salic A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "20956384", "url": "https://glygen.org/publication/PubMed/20956384" } ] }, { "title": "Ibudilast, a mixed PDE3/4 inhibitor, causes a selective and nitric oxide/cGMP-independent relaxation of the intracranial vertebrobasilar artery.", "journal": "European journal of pharmacology", "date": "2011", "authors": "Yamazaki T, Anraku T, Matsuzawa S", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "21036126", "url": "https://glygen.org/publication/PubMed/21036126" } ] }, { "title": "IgG1 is pathogenic in Leishmania mexicana infection.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010", "authors": "Chu N, Thomas BN, Patel SR, Buxbaum LU", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "21037092", "url": "https://glygen.org/publication/PubMed/21037092" } ] }, { "title": "The GLI gene encodes a nuclear protein which binds specific sequences in the human genome.", "journal": "Molecular and cellular biology", "date": "1990", "authors": "Kinzler KW, Vogelstein B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "2105456", "url": "https://glygen.org/publication/PubMed/2105456" } ] }, { "title": "Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Qin J, Lin Y, Norman RX, Ko HW, Eggenschwiler JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "21209331", "url": "https://glygen.org/publication/PubMed/21209331" } ] }, { "title": "beta-Arrestin: a protein that regulates beta-adrenergic receptor function.", "journal": "Science (New York, N.Y.)", "date": "1990", "authors": "Lohse MJ, Benovic JL, Codina J, Caron MG, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2163110", "url": "https://glygen.org/publication/PubMed/2163110" } ] }, { "title": "Sonic Hedgehog dependent phosphorylation by CK1alpha and GRK2 is required for ciliary accumulation and activation of smoothened.", "journal": "PLoS biology", "date": "2011", "authors": "Chen Y, Sasai N, Ma G, Yue T, Jia J, Briscoe J, Jiang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "21695114", "url": "https://glygen.org/publication/PubMed/21695114" } ] }, { "title": "Gli proteins in development and disease.", "journal": "Annual review of cell and developmental biology", "date": "2011", "authors": "Hui CC, Angers S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "21801010", "url": "https://glygen.org/publication/PubMed/21801010" } ] }, { "title": "The G-protein-coupled estrogen receptor GPER in health and disease.", "journal": "Nature reviews. Endocrinology", "date": "2011", "authors": "Prossnitz ER, Barton M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "21844907", "url": "https://glygen.org/publication/PubMed/21844907" } ] }, { "title": "Protein kinase A acts at the basal body of the primary cilium to prevent Gli2 activation and ventralization of the mouse neural tube.", "journal": "Development (Cambridge, England)", "date": "2011", "authors": "Tuson M, He M, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "22007132", "url": "https://glygen.org/publication/PubMed/22007132" } ] }, { "title": "Oxysterols are allosteric activators of the oncoprotein Smoothened.", "journal": "Nature chemical biology", "date": "2012", "authors": "Nachtergaele S, Mydock LK, Krishnan K, Rammohan J, Schlesinger PH, Covey DF, Rohatgi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "22231273", "url": "https://glygen.org/publication/PubMed/22231273" } ] }, { "title": "Gli protein nuclear localization signal.", "journal": "Vitamins and hormones", "date": "2012", "authors": "Hatayama M, Aruga J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "22391300", "url": "https://glygen.org/publication/PubMed/22391300" } ] }, { "title": "Minireview: G protein-coupled estrogen receptor-1, GPER-1: its mechanism of action and role in female reproductive cancer, renal and vascular physiology.", "journal": "Endocrinology", "date": "2012", "authors": "Filardo EJ, Thomas P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "22495674", "url": "https://glygen.org/publication/PubMed/22495674" } ] }, { "title": "Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.", "journal": "Archives of neurology", "date": "2012", "authors": "Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "reference": [ { "type": "PubMed", "id": "22782511", "url": "https://glygen.org/publication/PubMed/22782511" } ] }, { "title": "The cyclic AMP pathway.", "journal": "Cold Spring Harbor perspectives in biology", "date": "2012", "authors": "Sassone-Corsi P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "23209152", "url": "https://glygen.org/publication/PubMed/23209152" } ] }, { "title": "The ciliary G-protein-coupled receptor Gpr161 negatively regulates the Sonic hedgehog pathway via cAMP signaling.", "journal": "Cell", "date": "2013", "authors": "Mukhopadhyay S, Wen X, Ratti N, Loktev A, Rangell L, Scales SJ, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "23332756", "url": "https://glygen.org/publication/PubMed/23332756" } ] }, { "title": "Leishmania mexicana infection induces IgG to parasite surface glycoinositol phospholipids that can induce IL-10 in mice and humans.", "journal": "PLoS neglected tropical diseases", "date": "2013", "authors": "Buxbaum LU", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "23675550", "url": "https://glygen.org/publication/PubMed/23675550" } ] }, { "title": "The mechanisms of Hedgehog signalling and its roles in development and disease.", "journal": "Nature reviews. Molecular cell biology", "date": "2013", "authors": "Briscoe J, Therond PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "23719536", "url": "https://glygen.org/publication/PubMed/23719536" } ] }, { "title": "Structure of the human glucagon class B G-protein-coupled receptor.", "journal": "Nature", "date": "2013", "authors": "Siu FY, He M, de Graaf C, Han GW, Yang D, Zhang Z, Zhou C, Xu Q, Wacker D, Joseph JS, Liu W, Lau J, Cherezov V, Katritch V, Wang MW, Stevens RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-163359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163359" } ], "reference": [ { "type": "PubMed", "id": "23863937", "url": "https://glygen.org/publication/PubMed/23863937" } ] }, { "title": "Pharmacology of the bipyridines: amrinone and milrinone.", "journal": "Circulation", "date": "1986", "authors": "Alousi AA, Johnson DC", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2417744", "url": "https://glygen.org/publication/PubMed/2417744" } ] }, { "title": "Impact of interleukin-6 in hematological malignancies.", "journal": "Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie", "date": "2013", "authors": "Burger R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9660821", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660821" } ], "reference": [ { "type": "PubMed", "id": "24273487", "url": "https://glygen.org/publication/PubMed/24273487" } ] }, { "title": "Activation of Smurf E3 ligase promoted by smoothened regulates hedgehog signaling through targeting patched turnover.", "journal": "PLoS biology", "date": "2013", "authors": "Huang S, Zhang Z, Zhang C, Lv X, Zheng X, Chen Z, Sun L, Wang H, Zhu Y, Zhang J, Yang S, Lu Y, Sun Q, Tao Y, Liu F, Zhao Y, Chen D", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "24302888", "url": "https://glygen.org/publication/PubMed/24302888" } ] }, { "title": "Positive and negative regulation of Gli activity by Kif7 in the zebrafish embryo.", "journal": "PLoS genetics", "date": "2013", "authors": "Maurya AK, Ben J, Zhao Z, Lee RT, Niah W, Ng AS, Iyu A, Yu W, Elworthy S, van Eeden FJ, Ingham PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "24339784", "url": "https://glygen.org/publication/PubMed/24339784" } ] }, { "title": "Stress-related hormone norepinephrine induces interleukin-6 expression in GES-1 cells.", "journal": "Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas", "date": "2014", "authors": "Yang R, Lin Q, Gao HB, Zhang P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9660821", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660821" } ], "reference": [ { "type": "PubMed", "id": "24519125", "url": "https://glygen.org/publication/PubMed/24519125" } ] }, { "title": "Estrogen biology: new insights into GPER function and clinical opportunities.", "journal": "Molecular and cellular endocrinology", "date": "2014", "authors": "Prossnitz ER, Barton M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "24530924", "url": "https://glygen.org/publication/PubMed/24530924" } ] }, { "title": "Advances in targeting cyclic nucleotide phosphodiesterases.", "journal": "Nature reviews. Drug discovery", "date": "2014", "authors": "Maurice DH, Ke H, Ahmad F, Wang Y, Chung J, Manganiello VC", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "24687066", "url": "https://glygen.org/publication/PubMed/24687066" } ] }, { "title": "Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.", "journal": "Annals of neurology", "date": "2014", "authors": "Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "reference": [ { "type": "PubMed", "id": "24700542", "url": "https://glygen.org/publication/PubMed/24700542" } ] }, { "title": "ADCY5 couples glucose to insulin secretion in human islets.", "journal": "Diabetes", "date": "2014-09", "authors": "Hodson David J, Mitchell Ryan K, Marselli Lorella, Pullen Timothy J, Gimeno Brias Silvia, Semplici Francesca, Everett Katy L, Cooper Dermot M F, Bugliani Marco, Marchetti Piero, Lavallard Vanessa, Bosco Domenico, Piemonti Lorenzo, Johnson Paul R, Hughes Stephen J, Li Daliang, Li Wen-Hong, Shapiro A M James, Rutter Guy A", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "reference": [ { "type": "PubMed", "id": "24740569", "url": "https://glygen.org/publication/PubMed/24740569" } ] }, { "title": "G-protein-coupled receptors, Hedgehog signaling and primary cilia.", "journal": "Seminars in cell & developmental biology", "date": "2014", "authors": "Mukhopadhyay S, Rohatgi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "24845016", "url": "https://glygen.org/publication/PubMed/24845016" } ] }, { "title": "Primary cilium and sonic hedgehog signaling during neural tube patterning: role of GPCRs and second messengers.", "journal": "Developmental neurobiology", "date": "2015", "authors": "Pal K, Mukhopadhyay S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "24863049", "url": "https://glygen.org/publication/PubMed/24863049" } ] }, { "title": "G-protein-coupled receptors and localized signaling in the primary cilium during ventral neural tube patterning.", "journal": "Birth defects research. Part A, Clinical and molecular teratology", "date": "2015", "authors": "Hwang SH, Mukhopadhyay S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "24917297", "url": "https://glygen.org/publication/PubMed/24917297" } ] }, { "title": "Expression of Gs alpha in Escherichia coli. Purification and properties of two forms of the protein.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Graziano MP, Freissmuth M, Gilman AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2491850", "url": "https://glygen.org/publication/PubMed/2491850" } ] }, { "title": "Requirement of Smurf-mediated endocytosis of Patched1 in sonic hedgehog signal reception.", "journal": "eLife", "date": "2014", "authors": "Yue S, Tang LY, Tang Y, Tang Y, Shen QH, Ding J, Chen Y, Zhang Z, Yu TT, Zhang YE, Cheng SY", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "24925320", "url": "https://glygen.org/publication/PubMed/24925320" } ] }, { "title": "The kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing the cilium tip compartment.", "journal": "Nature cell biology", "date": "2014", "authors": "He M, Subramanian R, Bangs F, Omelchenko T, Liem KF Jr, Kapoor TM, Anderson KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5610787", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787" } ], "reference": [ { "type": "PubMed", "id": "24952464", "url": "https://glygen.org/publication/PubMed/24952464" } ] }, { "title": "G protein-coupled receptor 30 (GPR30) forms a plasma membrane complex with membrane-associated guanylate kinases (MAGUKs) and protein kinase A-anchoring protein 5 (AKAP5) that constitutively inhibits cAMP production.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Broselid S, Berg KA, Chavera TA, Kahn R, Clarke WP, Olde B, Leeb-Lundberg LM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "24962572", "url": "https://glygen.org/publication/PubMed/24962572" } ] }, { "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": "Pharmacology of positive inotropic phosphodiesterase III inhibitors.", "journal": "European heart journal", "date": "1989", "authors": "Honerjager P", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2553411", "url": "https://glygen.org/publication/PubMed/2553411" } ] }, { "title": "Multiple signaling pathways of histamine H2 receptors. Identification of an H2 receptor-dependent Ca2+ mobilization pathway in human HL-60 promyelocytic leukemia cells.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Mitsuhashi M, Mitsuhashi T, Payan DG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2553705", "url": "https://glygen.org/publication/PubMed/2553705" } ] }, { "title": "ADCY5 mutations are another cause of benign hereditary chorea.", "journal": "Neurology", "date": "2015", "authors": "Mencacci NE, Erro R, Wiethoff S, Hersheson J, Ryten M, Balint B, Ganos C, Stamelou M, Quinn N, Houlden H, Wood NW, Bhatia KP", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "reference": [ { "type": "PubMed", "id": "26085604", "url": "https://glygen.org/publication/PubMed/26085604" } ] }, { "title": "IL-10 Production in Macrophages Is Regulated by a TLR-Driven CREB-Mediated Mechanism That Is Linked to Genes Involved in Cell Metabolism.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2015", "authors": "Sanin DE, Prendergast CT, Mountford AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "26116503", "url": "https://glygen.org/publication/PubMed/26116503" } ] }, { "title": "The G-protein coupled estrogen receptor, GPER: The inside and inside-out story.", "journal": "Molecular and cellular endocrinology", "date": "2015", "authors": "Gaudet HM, Cheng SB, Christensen EM, Filardo EJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "26190834", "url": "https://glygen.org/publication/PubMed/26190834" } ] }, { "title": "Adenylyl Cyclase 5 Regulation by G\u03b2\u03b3 Involves Isoform-Specific Use of Multiple Interaction Sites.", "journal": "Molecular pharmacology", "date": "2015-10", "authors": "Brand Cameron S, Sadana Rachna, Malik Sundeep, Smrcka Alan V, Dessauer Carmen W", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "reference": [ { "type": "PubMed", "id": "26206488", "url": "https://glygen.org/publication/PubMed/26206488" } ] }, { "title": "Discovery of the Once-Weekly Glucagon-Like Peptide-1 (GLP-1) Analogue Semaglutide.", "journal": "Journal of medicinal chemistry", "date": "2015", "authors": "Lau J, Bloch P, Schaffer L, Pettersson I, Spetzler J, Kofoed J, Madsen K, Knudsen LB, McGuire J, Steensgaard DB, Strauss HM, Gram DX, Knudsen SM, Nielsen FS, Thygesen P, Reedtz-Runge S, Kruse T", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "26308095", "url": "https://glygen.org/publication/PubMed/26308095" } ] }, { "title": "Pentoxifylline for intermittent claudication.", "journal": "The Cochrane database of systematic reviews", "date": "2015", "authors": "Salhiyyah K, Forster R, Senanayake E, Abdel-Hadi M, Booth A, Michaels JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "26417854", "url": "https://glygen.org/publication/PubMed/26417854" } ] }, { "title": "Estrogen Enhances Linkage in the Vascular Endothelial Calmodulin Network via a Feedforward Mechanism at the G Protein-coupled Estrogen Receptor 1.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Tran QK, Firkins R, Giles J, Francis S, Matnishian V, Tran P, VerMeer M, Jasurda J, Burgard MA, Gebert-Oberle B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "26987903", "url": "https://glygen.org/publication/PubMed/26987903" } ] }, { "title": "Emerging roles for the novel estrogen-sensing receptor GPER1 in the CNS.", "journal": "Neuropharmacology", "date": "2017", "authors": "Alexander A, Irving AJ, Harvey J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "27392633", "url": "https://glygen.org/publication/PubMed/27392633" } ] }, { "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": "Hall of Fame among Pro-inflammatory Cytokines: Interleukin-6 Gene and Its Transcriptional Regulation Mechanisms.", "journal": "Frontiers in immunology", "date": "2016", "authors": "Luo Y, Zheng SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9660821", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660821" } ], "reference": [ { "type": "PubMed", "id": "28066415", "url": "https://glygen.org/publication/PubMed/28066415" } ] }, { "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": "G protein-coupled estrogen receptor 1 (GPER1)/GPR30 increases ERK1/2 activity through PDZ motif-dependent and -independent mechanisms.", "journal": "The Journal of biological chemistry", "date": "2017", "authors": "Gonzalez de Valdivia E, Broselid S, Kahn R, Olde B, Leeb-Lundberg LMF", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "28450397", "url": "https://glygen.org/publication/PubMed/28450397" } ] }, { "title": "G-protein-coupled receptor signaling through Gpr176, Gz, and RGS16 tunes time in the center of the circadian clock [Review].", "journal": "Endocrine journal", "date": "2017", "authors": "Goto K, Doi M, Wang T, Kunisue S, Murai I, Okamura H", "evidence": [ { "database": "Reactome", "id": "R-HSA-418597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597" } ], "reference": [ { "type": "PubMed", "id": "28502923", "url": "https://glygen.org/publication/PubMed/28502923" } ] }, { "title": "A role for G-protein coupled estrogen receptor (GPER) in estrogen-induced carcinogenesis: Dysregulated glandular homeostasis, survival and metastasis.", "journal": "The Journal of steroid biochemistry and molecular biology", "date": "2018", "authors": "Filardo EJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "28595943", "url": "https://glygen.org/publication/PubMed/28595943" } ] }, { "title": "Beta-adrenergic receptor kinase: identification of a novel protein kinase that phosphorylates the agonist-occupied form of the receptor.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1986", "authors": "Benovic JL, Strasser RH, Caron MG, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "2871555", "url": "https://glygen.org/publication/PubMed/2871555" } ] }, { "title": "Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus.", "journal": "Neurology. Genetics", "date": "2017", "authors": "Barrett MJ, Williams ES, Chambers C, Dhamija R", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "reference": [ { "type": "PubMed", "id": "28971144", "url": "https://glygen.org/publication/PubMed/28971144" } ] }, { "title": "Effect and safety of roflumilast for chronic obstructive pulmonary disease in Chinese patients.", "journal": "Medicine", "date": "2018", "authors": "Liu DY, Wang ZG, Gao Y, Zhang HM, Zhang YX, Wang XJ, Peng D", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "29443750", "url": "https://glygen.org/publication/PubMed/29443750" } ] }, { "title": "Use of cilomilast-loaded phosphatiosomes to suppress neutrophilic inflammation for attenuating acute lung injury: the effect of nanovesicular surface charge.", "journal": "Journal of nanobiotechnology", "date": "2018", "authors": "Liu FC, Yu HP, Lin CY, Elzoghby AO, Hwang TL, Fang JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "29602314", "url": "https://glygen.org/publication/PubMed/29602314" } ] }, { "title": "The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line.", "journal": "The Journal of biological chemistry", "date": "1985", "authors": "Sausville E, Carney D, Battey J", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "2991279", "url": "https://glygen.org/publication/PubMed/2991279" } ] }, { "title": "Identification, purification, and partial characterization of a novel Mr 28,000 integral membrane protein from erythrocytes and renal tubules.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Denker BM, Smith BL, Kuhajda FP, Agre P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "3049610", "url": "https://glygen.org/publication/PubMed/3049610" } ] }, { "title": "IL-12/IL-23p40 identified as a downstream target of apremilast in ex vivo models of arthritis.", "journal": "Therapeutic advances in musculoskeletal disease", "date": "2019", "authors": "Kragstrup TW, Adams M, Lomholt S, Nielsen MA, Heftdal LD, Schafer P, Deleuran B", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "30833991", "url": "https://glygen.org/publication/PubMed/30833991" } ] }, { "title": "Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.", "journal": "Parkinsonism & related disorders", "date": "2019", "authors": "Bohlega SA, Abou-Al-Shaar H, AlDakheel A, Alajlan H, Bohlega BS, Meyer BF, Monies D, Cupler EJ, Al-Saif AM", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "reference": [ { "type": "PubMed", "id": "30975617", "url": "https://glygen.org/publication/PubMed/30975617" } ] }, { "title": "The role of Gs in activation of adenylate cyclase.", "journal": "Biochemical Society transactions", "date": "1987", "authors": "Martin BR, Farndale RW, Wong SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "3104109", "url": "https://glygen.org/publication/PubMed/3104109" } ] }, { "title": "Isolation and characterization of the human Gs alpha gene.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1988", "authors": "Kozasa T, Itoh H, Tsukamoto T, Kaziro Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "3127824", "url": "https://glygen.org/publication/PubMed/3127824" } ] }, { "title": "Crisaborole 2% ointment for the treatment of intertriginous, anogenital, and facial psoriasis: A double-blind, randomized, vehicle-controlled trial.", "journal": "Journal of the American Academy of Dermatology", "date": "2020", "authors": "Hashim PW, Chima M, Kim HJ, Bares J, Yao CJ, Singer G, Chen T, Genece J, Baum D, Kimmel GW, Nia JK, Gagliotti M, Lebwohl MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "31279028", "url": "https://glygen.org/publication/PubMed/31279028" } ] }, { "title": "Effect of the inhaled PDE4 inhibitor CHF6001 on biomarkers of inflammation in COPD.", "journal": "Respiratory research", "date": "2019", "authors": "Singh D, Beeh KM, Colgan B, Kornmann O, Leaker B, Watz H, Lucci G, Geraci S, Emirova A, Govoni M, Nandeuil MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "31399091", "url": "https://glygen.org/publication/PubMed/31399091" } ] }, { "title": "Simple assessment of quality of life and lower limb functional capacity during cilostazol treatment - results of the SHort-tERm cIlostazol eFFicacy and quality of life (SHERIFF) study.", "journal": "VASA. Zeitschrift fur Gefasskrankheiten", "date": "2020", "authors": "Farkas K, Kolossvary E, Jarai Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "31983287", "url": "https://glygen.org/publication/PubMed/31983287" } ] }, { "title": "Inhaled Phosphodiesterase 4 (PDE4) Inhibitors for Inflammatory Respiratory Diseases.", "journal": "Frontiers in pharmacology", "date": "2020", "authors": "Phillips JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32226383", "url": "https://glygen.org/publication/PubMed/32226383" } ] }, { "title": "Commentary: Phosphodiesterase 4 inhibitors as potential adjunct treatment targeting the cytokine storm in COVID-19.", "journal": "Metabolism: clinical and experimental", "date": "2020", "authors": "Dalamaga M, Karampela I, Mantzoros CS", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32497535", "url": "https://glygen.org/publication/PubMed/32497535" } ] }, { "title": "Repositioning of pentoxifylline as an immunomodulator and regulator of the renin-angiotensin system in the treatment of COVID-19.", "journal": "Medical hypotheses", "date": "2020", "authors": "Maldonado V, Loza-Mejia MA, Chavez-Alderete J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32540603", "url": "https://glygen.org/publication/PubMed/32540603" } ] }, { "title": "COVID-19 patients with psoriasis and psoriatic arthritis on biologic immunosuppressant therapy vs apremilast in North Spain.", "journal": "Dermatologic therapy", "date": "2020", "authors": "Queiro Silva R, Armesto S, Gonzalez Vela C, Naharro Fernandez C, Gonzalez-Gay MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32618402", "url": "https://glygen.org/publication/PubMed/32618402" } ] }, { "title": "Hypothesis: Pentoxifylline is a potential cytokine modulator therapeutic in COVID-19 patients.", "journal": "Pharmacology research & perspectives", "date": "2020", "authors": "Hendry BM, Stafford N, Arnold AD, Sangwaiya A, Manglam V, Rosen SD, Arnold J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "32715661", "url": "https://glygen.org/publication/PubMed/32715661" } ] }, { "title": "Pentoxifylline: A Drug with Antiviral and Anti-Inflammatory Effects to Be Considered in the Treatment of Coronavirus Disease 2019.", "journal": "Medical principles and practice : international journal of the Kuwait University, Health Science Centre", "date": "2021", "authors": "Ghasemnejad-Berenji M, Pashapour S, Sadeghpour S", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "33049737", "url": "https://glygen.org/publication/PubMed/33049737" } ] }, { "title": "Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.", "journal": "Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology", "date": "2021", "authors": "Okamoto N, Miya F, Kitai Y, Tsunoda T, Kato M, Saitoh S, Kanemura Y, Kosaki K", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "reference": [ { "type": "PubMed", "id": "33704598", "url": "https://glygen.org/publication/PubMed/33704598" } ] }, { "title": "Association of diabetes-related variants in ADCY5 and CDKAL1 with neonatal insulin, C-peptide, and birth weight.", "journal": "Endocrine", "date": "2021", "authors": "Aguilera-Venegas IG, Mora-Pena JD, Velazquez-Villafana M, Gonzalez-Dominguez MI, Barbosa-Sabanero G, Gomez-Zapata HM, Lazo-de-la-Vega-Monroy ML", "evidence": [ { "database": "RefSeq", "id": "NP_001186571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186571" } ], "reference": [ { "type": "PubMed", "id": "34169461", "url": "https://glygen.org/publication/PubMed/34169461" } ] }, { "title": "A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities.", "journal": "Mov. Disord. Clin. Pract.", "date": "2021", "authors": "Kaiyrzhanov Rauan, Zaki Maha S, Maroofian Reza, Dominik Natalia, Rad Aboulfazl, Vona Barbara, Houlden Henry", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "reference": [ { "type": "PubMed", "id": "34631954", "url": "https://glygen.org/publication/PubMed/34631954" } ] }, { "title": "Mutation of ADCY5 gene in patients with Meige syndrome.", "journal": "Asian journal of surgery", "date": "2022", "authors": "Liu J, Ding H, Liu R", "evidence": [ { "database": "RefSeq", "id": "NP_001186571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186571" } ], "reference": [ { "type": "PubMed", "id": "35288007", "url": "https://glygen.org/publication/PubMed/35288007" } ] }, { "title": "Association of MARC1, ADCY5, and BCO1 Variants with the Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia in Mexican Adult Men.", "journal": "International journal of molecular sciences", "date": "2022-10-05", "authors": "Rivera-Paredez Berenice, Aparicio-Bautista Diana I, Argoty-Pantoja Anna D, Pati\u00f1o Nelly, Flores Morales Jeny, Salmer\u00f3n Jorge, Le\u00f3n-Reyes Guadalupe, Vel\u00e1zquez-Cruz Rafael", "evidence": [ { "database": "RefSeq", "id": "NP_001186571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186571" } ], "reference": [ { "type": "PubMed", "id": "36233117", "url": "https://glygen.org/publication/PubMed/36233117" } ] }, { "title": "Deep brain stimulation effect in genetic dyskinetic cerebral palsy: The case of ADCY5- related disease.", "journal": "Molecular genetics and metabolism", "date": "2023-01", "authors": "Cif Laura, Demailly Diane, Gehin Claire, Chan Seng Emilie, Dornadic Morgan, Huby Sophie, Poulen Gaetan, Roubertie Agathe, Villessot Matthieu, Roujeau Thomas, Coubes Philippe", "evidence": [ { "database": "RefSeq", "id": "NP_001186571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186571" } ], "reference": [ { "type": "PubMed", "id": "36610259", "url": "https://glygen.org/publication/PubMed/36610259" } ] }, { "title": "Expression of the vasopressin and oxytocin genes in human hypothalami.", "journal": "FEBS letters", "date": "1985", "authors": "Mohr E, Hillers M, Ivell R, Haulica ID, Richter D", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "4065330", "url": "https://glygen.org/publication/PubMed/4065330" } ] }, { "title": "The new inotropic phosphodiesterase inhibitors.", "journal": "Archives internationales de physiologie et de biochimie", "date": "1984", "authors": "el Allaf D, D'Orio V, Carlier J", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "6085243", "url": "https://glygen.org/publication/PubMed/6085243" } ] }, { "title": "Aquaporin-3 water channel localization and regulation in rat kidney.", "journal": "The American journal of physiology", "date": "1995", "authors": "Ecelbarger CA, Terris J, Frindt G, Echevarria M, Marples D, Nielsen S, Knepper MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "7503232", "url": "https://glygen.org/publication/PubMed/7503232" } ] }, { "title": "Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct.", "journal": "The Journal of clinical investigation", "date": "1994", "authors": "Sasaki S, Fushimi K, Saito H, Saito F, Uchida S, Ishibashi K, Kuwahara M, Ikeuchi T, Inui K, Nakajima K, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "7510718", "url": "https://glygen.org/publication/PubMed/7510718" } ] }, { "title": "Tyrosine phosphorylation of phospholipase C-gamma 2 is involved in the activation of phosphoinositide hydrolysis by Fc receptors in human neutrophils.", "journal": "Biochemical and biophysical research communications", "date": "1994", "authors": "Dusi S, Donini M, Della Bianca V, Rossi F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "7517665", "url": "https://glygen.org/publication/PubMed/7517665" } ] }, { "title": "Protein-tyrosine kinase p72syk in Fc gamma RI receptor signaling.", "journal": "Blood", "date": "1994", "authors": "Durden DL, Liu YB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "7522622", "url": "https://glygen.org/publication/PubMed/7522622" } ] }, { "title": "Cloning and expression of AQP3, a water channel from the medullary collecting duct of rat kidney.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1994", "authors": "Echevarria M, Windhager EE, Tate SS, Frindt G", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "7526388", "url": "https://glygen.org/publication/PubMed/7526388" } ] }, { "title": "Tyrosine phosphorylation and association of Syk with Fc gamma RII in monocytic THP-1 cells.", "journal": "The Biochemical journal", "date": "1995", "authors": "Ghazizadeh S, Bolen JB, Fleit HB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "7530449", "url": "https://glygen.org/publication/PubMed/7530449" } ] }, { "title": "Water channel expression in human ADPKD kidneys.", "journal": "The American journal of physiology", "date": "1995", "authors": "Bachinsky DR, Sabolic I, Emmanouel DS, Jefferson DM, Carone FA, Brown D, Perrone RD", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "7535000", "url": "https://glygen.org/publication/PubMed/7535000" } ] }, { "title": "Immunolocalization of the mercurial-insensitive water channel and glycerol intrinsic protein in epithelial cell plasma membranes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Frigeri A, Gropper MA, Turck CW, Verkman AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "7538665", "url": "https://glygen.org/publication/PubMed/7538665" } ] }, { "title": "Up-regulation of monocytic IL-10 by tumor necrosis factor-alpha and cAMP elevating drugs.", "journal": "International immunology", "date": "1995", "authors": "Platzer C, Meisel C, Vogt K, Platzer M, Volk HD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "7547677", "url": "https://glygen.org/publication/PubMed/7547677" } ] }, { "title": "Phosphorylation of Gz alpha by protein kinase C blocks interaction with the beta gamma complex.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Fields TA, Casey PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-418597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597" } ], "reference": [ { "type": "PubMed", "id": "7559455", "url": "https://glygen.org/publication/PubMed/7559455" } ] }, { "title": "G protein beta gamma subunits stimulate phosphorylation of Shc adapter protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Touhara K, Hawes BE, van Biesen T, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "7568118", "url": "https://glygen.org/publication/PubMed/7568118" } ] }, { "title": "Stimulation of cloned human glucagon-like peptide 1 receptor expressed in HEK 293 cells induces cAMP-dependent activation of calcium-induced calcium release.", "journal": "FEBS letters", "date": "1995", "authors": "Gromada J, Rorsman P, Dissing S, Wulff BS", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "7589461", "url": "https://glygen.org/publication/PubMed/7589461" } ] }, { "title": "Activation of type II adenylyl cyclase by the cloned mu-opioid receptor: coupling to multiple G proteins.", "journal": "Journal of neurochemistry", "date": "1995", "authors": "Chan JS, Chiu TT, Wong YH", "evidence": [ { "database": "Reactome", "id": "R-HSA-418597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597" } ], "reference": [ { "type": "PubMed", "id": "7595566", "url": "https://glygen.org/publication/PubMed/7595566" } ] }, { "title": "Direct control of exocytosis by receptor-mediated activation of the heterotrimeric GTPases Gi and G(o) or by the expression of their active G alpha subunits.", "journal": "The EMBO journal", "date": "1995", "authors": "Lang J, Nishimoto I, Okamoto T, Regazzi R, Kiraly C, Weller U, Wollheim CB", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "7641683", "url": "https://glygen.org/publication/PubMed/7641683" } ] }, { "title": "Receptor-tyrosine-kinase- and G beta gamma-mediated MAP kinase activation by a common signalling pathway.", "journal": "Nature", "date": "1995", "authors": "van Biesen T, Hawes BE, Luttrell DK, Krueger KM, Touhara K, Porfiri E, Sakaue M, Luttrell LM, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "7651538", "url": "https://glygen.org/publication/PubMed/7651538" } ] }, { "title": "CHIP28 water channels are localized in constitutively water-permeable segments of the nephron.", "journal": "The Journal of cell biology", "date": "1993", "authors": "Nielsen S, Smith BL, Christensen EI, Knepper MA, Agre P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "7678419", "url": "https://glygen.org/publication/PubMed/7678419" } ] }, { "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-418597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597" } ], "reference": [ { "type": "PubMed", "id": "7937899", "url": "https://glygen.org/publication/PubMed/7937899" } ] }, { "title": "Multiple regulatory elements in the interleukin-6 gene mediate induction by prostaglandins, cyclic AMP, and lipopolysaccharide.", "journal": "Molecular and cellular biology", "date": "1994", "authors": "Dendorfer U, Oettgen P, Libermann TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9660821", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660821" } ], "reference": [ { "type": "PubMed", "id": "8007951", "url": "https://glygen.org/publication/PubMed/8007951" } ] }, { "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": "Cloning of a water channel homolog expressed in brain meningeal cells and kidney collecting duct that functions as a stilbene-sensitive glycerol transporter.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Ma T, Frigeri A, Hasegawa H, Verkman AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "8063828", "url": "https://glygen.org/publication/PubMed/8063828" } ] }, { "title": "Coupling of the alpha 2-adrenergic receptor to the inhibitory G-protein Gi and adenylate cyclase in HT29 cells.", "journal": "The Biochemical journal", "date": "1993", "authors": "Remaury A, Larrouy D, Daviaud D, Rouot B, Paris H", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "8099279", "url": "https://glygen.org/publication/PubMed/8099279" } ] }, { "title": "Distinct patterns of bidirectional regulation of mammalian adenylyl cyclases.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Taussig R, Tang WJ, Hepler JR, Gilman AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-170670", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170670" } ], "reference": [ { "type": "PubMed", "id": "8119955", "url": "https://glygen.org/publication/PubMed/8119955" } ] }, { "title": "Tissue and plasma concentrations of amidated and glycine-extended glucagon-like peptide I in humans.", "journal": "Diabetes", "date": "1994", "authors": "Orskov C, Rabenhoj L, Wettergren A, Kofod H, Holst JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "8138058", "url": "https://glygen.org/publication/PubMed/8138058" } ] }, { "title": "Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine.", "journal": "Science (New York, N.Y.)", "date": "1994", "authors": "Deen PM, Verdijk MA, Knoers NV, Wieringa B, Monnens LA, van Os CH, van Oost BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "8140421", "url": "https://glygen.org/publication/PubMed/8140421" } ] }, { "title": "Cross-linking of Fc gamma receptor I (Fc gamma RI) and receptor II (Fc gamma RII) on monocytic cells activates a signal transduction pathway common to both Fc receptors that involves the stimulation of p72 Syk protein tyrosine kinase.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Kiener PA, Rankin BM, Burkhardt AL, Schieven GL, Gilliland LK, Rowley RB, Bolen JB, Ledbetter JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "8226994", "url": "https://glygen.org/publication/PubMed/8226994" } ] }, { "title": "Human G(olf) alpha: complementary deoxyribonucleic acid structure and expression in pancreatic islets and other tissues outside the olfactory neuroepithelium and central nervous system.", "journal": "Endocrinology", "date": "1993", "authors": "Zigman JM, Westermark GT, LaMendola J, Boel E, Steiner DF", "evidence": [ { "database": "Reactome", "id": "R-HSA-170660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170660" } ], "reference": [ { "type": "PubMed", "id": "8243272", "url": "https://glygen.org/publication/PubMed/8243272" } ] }, { "title": "Concentration-dependent effects of adrenaline on the profile of insulin secretion from isolated human islets of Langerhans.", "journal": "The Journal of endocrinology", "date": "1993", "authors": "Lacey RJ, Cable HC, James RF, London NJ, Scarpello JH, Morgan NG", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "8277227", "url": "https://glygen.org/publication/PubMed/8277227" } ] }, { "title": "Inhibition of adenylyl cyclase by Gi alpha.", "journal": "Science (New York, N.Y.)", "date": "1993", "authors": "Taussig R, Iniguez-Lluhi JA, Gilman AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-170670", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170670" } ], "reference": [ { "type": "PubMed", "id": "8327893", "url": "https://glygen.org/publication/PubMed/8327893" } ] }, { "title": "Polypeptide variants of beta-arrestin and arrestin3.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Sterne-Marr R, Gurevich VV, Goldsmith P, Bodine RC, Sanders C, Donoso LA, Benovic JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "8340388", "url": "https://glygen.org/publication/PubMed/8340388" } ] }, { "title": "Involvement of p72syk, a protein-tyrosine kinase, in Fc gamma receptor signaling.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Agarwal A, Salem P, Robbins KC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "8340414", "url": "https://glygen.org/publication/PubMed/8340414" } ] }, { "title": "Cloning and functional expression of the human glucagon-like peptide-1 (GLP-1) receptor.", "journal": "Endocrinology", "date": "1993", "authors": "Dillon JS, Tanizawa Y, Wheeler MB, Leng XH, Ligon BB, Rabin DU, Yoo-Warren H, Permutt MA, Boyd AE 3rd", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "8404634", "url": "https://glygen.org/publication/PubMed/8404634" } ] }, { "title": "Cloning and functional expression of the human islet GLP-1 receptor. Demonstration that exendin-4 is an agonist and exendin-(9-39) an antagonist of the receptor.", "journal": "Diabetes", "date": "1993", "authors": "Thorens B, Porret A, Buhler L, Deng SP, Morel P, Widmann C", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "8405712", "url": "https://glygen.org/publication/PubMed/8405712" } ] }, { "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": "Phosphorylation and desensitization of human m2 muscarinic cholinergic receptors by two isoforms of the beta-adrenergic receptor kinase.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Richardson RM, Kim C, Benovic JL, Hosey MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "8514797", "url": "https://glygen.org/publication/PubMed/8514797" } ] }, { "title": "Characterization and expression of the human A2a adenosine receptor gene.", "journal": "Journal of neurochemistry", "date": "1996", "authors": "Peterfreund RA, MacCollin M, Gusella J, Fink JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9660821", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660821" } ], "reference": [ { "type": "PubMed", "id": "8522976", "url": "https://glygen.org/publication/PubMed/8522976" } ] }, { "title": "Adenosine receptor-induced cyclic AMP generation and inhibition of 5-hydroxytryptamine release in human platelets.", "journal": "British journal of clinical pharmacology", "date": "1995", "authors": "Cooper JA, Hill SJ, Alexander SP, Rubin PC, Horn EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9660821", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660821" } ], "reference": [ { "type": "PubMed", "id": "8527267", "url": "https://glygen.org/publication/PubMed/8527267" } ] }, { "title": "Fibronectin fibrils and growth factors stimulate anchorage-independent growth of a murine mammary carcinoma.", "journal": "Experimental cell research", "date": "1996", "authors": "Saulnier R, Bhardwaj B, Klassen J, Leopold D, Rahimi N, Tremblay E, Mosher D, Elliott B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "8598224", "url": "https://glygen.org/publication/PubMed/8598224" } ] }, { "title": "Different single receptor domains determine the distinct G protein coupling profiles of members of the vasopressin receptor family.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Liu J, Wess J", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "8621513", "url": "https://glygen.org/publication/PubMed/8621513" } ] }, { "title": "Phospholipase C-gamma1 interacts with conserved phosphotyrosyl residues in the linker region of Syk and is a substrate for Syk.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Law CL, Chandran KA, Sidorenko SP, Clark EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "8657103", "url": "https://glygen.org/publication/PubMed/8657103" } ] }, { "title": "Chimeric mutagenesis of putative G-protein coupling domains of the alpha2A-adrenergic receptor. Localization of two redundant and fully competent gi coupling domains.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Eason MG, Liggett SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "8662784", "url": "https://glygen.org/publication/PubMed/8662784" } ] }, { "title": "Purification and characterization of a soluble form of mammalian adenylyl cyclase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Dessauer CW, Gilman AG", "evidence": [ { "database": "Reactome", "id": "R-HSA-170660", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170660" } ], "reference": [ { "type": "PubMed", "id": "8663304", "url": "https://glygen.org/publication/PubMed/8663304" } ] }, { "title": "Members of the G protein-coupled receptor kinase family that phosphorylate the beta2-adrenergic receptor facilitate sequestration.", "journal": "Biochemistry", "date": "1996", "authors": "Menard L, Ferguson SS, Barak LS, Bertrand L, Premont RT, Colapietro AM, Lefkowitz RJ, Caron MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "8672451", "url": "https://glygen.org/publication/PubMed/8672451" } ] }, { "title": "Effect of a dynein inhibitor on vasopressin action in toad urinary bladder.", "journal": "The Journal of physiology", "date": "1996", "authors": "Marples D, Barber B, Taylor A", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "8683474", "url": "https://glygen.org/publication/PubMed/8683474" } ] }, { "title": "Role of c-Src tyrosine kinase in G protein-coupled receptor- and Gbetagamma subunit-mediated activation of mitogen-activated protein kinases.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Luttrell LM, Hawes BE, van Biesen T, Luttrell DK, Lansing TJ, Lefkowitz RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9634597", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597" } ], "reference": [ { "type": "PubMed", "id": "8702633", "url": "https://glygen.org/publication/PubMed/8702633" } ] }, { "title": "Expression of alpha 2- and beta-adrenoceptor subtypes in human islets of Langerhans.", "journal": "The Journal of endocrinology", "date": "1996", "authors": "Lacey RJ, Chan SL, Cable HC, James RF, Perrett CW, Scarpello JH, Morgan NG", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "8778232", "url": "https://glygen.org/publication/PubMed/8778232" } ] }, { "title": "Molecular mechanism underlying glucagon-like peptide 1 induced calcium mobilization from internal stores in insulin-secreting beta TC3 cells.", "journal": "Acta physiologica Scandinavica", "date": "1996", "authors": "Gromada J, Rorsman P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "8830891", "url": "https://glygen.org/publication/PubMed/8830891" } ] }, { "title": "The human AQP4 gene: definition of the locus encoding two water channel polypeptides in brain.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Lu M, Lee MD, Smith BL, Jung JS, Agre P, Verdijk MA, Merkx G, Rijss JP, Deen PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "8855281", "url": "https://glygen.org/publication/PubMed/8855281" } ] }, { "title": "Abrogation of the Fc gamma receptor IIA-mediated phagocytic signal by stem-loop Syk antisense oligonucleotides.", "journal": "Molecular biology of the cell", "date": "1996", "authors": "Matsuda M, Park JG, Wang DC, Hunter S, Chien P, Schreiber AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "8862523", "url": "https://glygen.org/publication/PubMed/8862523" } ] }, { "title": "Mechanisms of inhibition of insulin release.", "journal": "The American journal of physiology", "date": "1996", "authors": "Sharp GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "8997178", "url": "https://glygen.org/publication/PubMed/8997178" } ] }, { "title": "Tyrosine phosphorylation and Fcgamma receptor-mediated phagocytosis.", "journal": "FEBS letters", "date": "1997", "authors": "Strzelecka A, Kwiatkowska K, Sobota A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "9000504", "url": "https://glygen.org/publication/PubMed/9000504" } ] }, { "title": "Identification of the major sites of autophosphorylation of the murine protein-tyrosine kinase Syk.", "journal": "Biochimica et biophysica acta", "date": "1997", "authors": "Furlong MT, Mahrenholz AM, Kim KH, Ashendel CL, Harrison ML, Geahlen RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "9042338", "url": "https://glygen.org/publication/PubMed/9042338" } ] }, { "title": "syk kinase activation by a src kinase-initiated activation loop phosphorylation chain reaction.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1997", "authors": "El-Hillal O, Kurosaki T, Yamamura H, Kinet JP, Scharenberg AM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "9050880", "url": "https://glygen.org/publication/PubMed/9050880" } ] }, { "title": "Mapping of the human IL10 gene and further characterization of the 5' flanking sequence.", "journal": "Immunogenetics", "date": "1997", "authors": "Eskdale J, Kube D, Tesch H, Gallagher G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "9162098", "url": "https://glygen.org/publication/PubMed/9162098" } ] }, { "title": "Protein kinase A phosphorylation is involved in regulated exocytosis of aquaporin-2 in transfected LLC-PK1 cells.", "journal": "The American journal of physiology", "date": "1997", "authors": "Katsura T, Gustafson CE, Ausiello DA, Brown D", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "9227644", "url": "https://glygen.org/publication/PubMed/9227644" } ] }, { "title": "Anagrelide as a new platelet-lowering agent in essential thrombocythemia: mechanism of actin, efficacy, toxicity, current indications.", "journal": "Seminars in thrombosis and hemostasis", "date": "1997", "authors": "Tefferi A, Silverstein MN, Petitt RM, Mesa RA, Solberg LA Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "9263355", "url": "https://glygen.org/publication/PubMed/9263355" } ] }, { "title": "A critical role for Syk in signal transduction and phagocytosis mediated by Fcgamma receptors on macrophages.", "journal": "The Journal of experimental medicine", "date": "1997", "authors": "Crowley MT, Costello PS, Fitzer-Attas CJ, Turner M, Meng F, Lowell C, Tybulewicz VL, DeFranco AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "9314552", "url": "https://glygen.org/publication/PubMed/9314552" } ] }, { "title": "Mercury-sensitive residues and pore site in AQP3 water channel.", "journal": "Biochemistry", "date": "1997", "authors": "Kuwahara M, Gu Y, Ishibashi K, Marumo F, Sasaki S", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "9369468", "url": "https://glygen.org/publication/PubMed/9369468" } ] }, { "title": "Aquaporins in complex tissues. I. Developmental patterns in respiratory and glandular tissues of rat.", "journal": "The American journal of physiology", "date": "1997", "authors": "King LS, Nielsen S, Agre P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "9374639", "url": "https://glygen.org/publication/PubMed/9374639" } ] }, { "title": "Aquaporins in complex tissues. II. Subcellular distribution in respiratory and glandular tissues of rat.", "journal": "The American journal of physiology", "date": "1997", "authors": "Nielsen S, King LS, Christensen BM, Agre P", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "9374640", "url": "https://glygen.org/publication/PubMed/9374640" } ] }, { "title": "Crystal structure of the catalytic domains of adenylyl cyclase in a complex with Gsalpha.GTPgammaS.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Tesmer JJ, Sunahara RK, Gilman AG, Sprang SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "9417641", "url": "https://glygen.org/publication/PubMed/9417641" } ] }, { "title": "Phosphorylation of inositol 1,4,5-trisphosphate receptors by cAMP-dependent protein kinase. Type I, II, and III receptors are differentially susceptible to phosphorylation and are phosphorylated in intact cells.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Wojcikiewicz RJ, Luo SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "9488697", "url": "https://glygen.org/publication/PubMed/9488697" } ] }, { "title": "Stimulation of type 1 and type 8 Ca2+/calmodulin-sensitive adenylyl cyclases by the Gs-coupled 5-hydroxytryptamine subtype 5-HT7A receptor.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Baker LP, Nielsen MD, Impey S, Metcalf MA, Poser SW, Chan G, Obrietan K, Hamblin MW, Storm DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-418555", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555" } ], "reference": [ { "type": "PubMed", "id": "9651336", "url": "https://glygen.org/publication/PubMed/9651336" } ] }, { "title": "Inhibition of adenylyl cyclase isoforms V and VI by various Gbetagamma subunits.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "1998", "authors": "Bayewitch ML, Avidor-Reiss T, Levy R, Pfeuffer T, Nevo I, Simonds WF, Vogel Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "9707174", "url": "https://glygen.org/publication/PubMed/9707174" } ] }, { "title": "Molecular basis of V2 vasopressin receptor/Gs coupling selectivity.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Erlenbach I, Wess J", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "9756892", "url": "https://glygen.org/publication/PubMed/9756892" } ] }, { "title": "Subtype-specific stimulation of [35S]GTPgammaS binding by recombinant alpha2-adrenoceptors.", "journal": "European journal of pharmacology", "date": "1998", "authors": "Peltonen JM, Pihlavisto M, Scheinin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-400042", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042" } ], "reference": [ { "type": "PubMed", "id": "9760042", "url": "https://glygen.org/publication/PubMed/9760042" } ] }, { "title": "Bidirectional water fluxes and specificity for small hydrophilic molecules in aquaporins 0-5.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Meinild AK, Klaerke DA, Zeuthen T", "evidence": [ { "database": "Reactome", "id": "R-HSA-432040", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040" } ], "reference": [ { "type": "PubMed", "id": "9829975", "url": "https://glygen.org/publication/PubMed/9829975" } ] }, { "title": "Cbl-mediated negative regulation of the Syk tyrosine kinase. A critical role for Cbl phosphotyrosine-binding domain binding to Syk phosphotyrosine 323.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Lupher ML Jr, Rao N, Lill NL, Andoniou CE, Miyake S, Clark EA, Druker B, Band H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9664323", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323" } ], "reference": [ { "type": "PubMed", "id": "9857068", "url": "https://glygen.org/publication/PubMed/9857068" } ] }, { "title": "The human 5-ht5A receptor couples to Gi/Go proteins and inhibits adenylate cyclase in HEK 293 cells.", "journal": "European journal of pharmacology", "date": "1998", "authors": "Francken BJ, Jurzak M, Vanhauwe JF, Luyten WH, Leysen JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-170670", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170670" } ], "reference": [ { "type": "PubMed", "id": "9865521", "url": "https://glygen.org/publication/PubMed/9865521" } ] }, { "title": "Expression of adenylyl cyclase subtypes in pancreatic beta-cells.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Leech CA, Castonguay MA, Habener JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-381676", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676" } ], "reference": [ { "type": "PubMed", "id": "9920805", "url": "https://glygen.org/publication/PubMed/9920805" } ] } ], "pathway": [ { "id": "hsa:111", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:111", "resource": "KEGG Pathway" }, { "id": "R-HSA-163359", "name": "Glucagon signaling in metabolic regulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163359", "resource": "Reactome", "description": "Glucagon signaling in metabolic regulation" }, { "id": "R-HSA-163615", "name": "PKA activation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163615", "resource": "Reactome", "description": "PKA activation" }, { "id": "R-HSA-164378", "name": "PKA activation in glucagon signalling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-164378", "resource": "Reactome", "description": "PKA activation in glucagon signalling" }, { "id": "R-HSA-170660", "name": "Adenylate cyclase activating pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170660", "resource": "Reactome", "description": "Adenylate cyclase activating pathway" }, { "id": "R-HSA-170670", "name": "Adenylate cyclase inhibitory pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170670", "resource": "Reactome", "description": "Adenylate cyclase inhibitory pathway" }, { "id": "R-HSA-381676", "name": "Glucagon-like Peptide-1 (GLP1) regulates insulin secretion", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381676", "resource": "Reactome", "description": "Glucagon-like Peptide-1 (GLP1) regulates insulin secretion" }, { "id": "R-HSA-400042", "name": "Adrenaline,noradrenaline inhibits insulin secretion", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400042", "resource": "Reactome", "description": "Adrenaline,noradrenaline inhibits insulin secretion" }, { "id": "R-HSA-418555", "name": "G alpha (s) signalling events", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418555", "resource": "Reactome", "description": "G alpha (s) signalling events" }, { "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-418597", "name": "G alpha (z) signalling events", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418597", "resource": "Reactome", "description": "G alpha (z) signalling events" }, { "id": "R-HSA-432040", "name": "Vasopressin regulates renal water homeostasis via Aquaporins", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-432040", "resource": "Reactome", "description": "Vasopressin regulates renal water homeostasis via Aquaporins" }, { "id": "R-HSA-5610787", "name": "Hedgehog 'off' state", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610787", "resource": "Reactome", "description": "Hedgehog 'off' state" }, { "id": "R-HSA-9634597", "name": "GPER1 signaling", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9634597", "resource": "Reactome", "description": "GPER1 signaling" }, { "id": "R-HSA-9660821", "name": "ADORA2B mediated anti-inflammatory cytokines production", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9660821", "resource": "Reactome", "description": "ADORA2B mediated anti-inflammatory cytokines production" }, { "id": "R-HSA-9664323", "name": "FCGR3A-mediated IL10 synthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9664323", "resource": "Reactome", "description": "FCGR3A-mediated IL10 synthesis" } ], "orthologs": [ { "uniprot_canonical_ac": "P84309-1", "protein_name": "Adenylate cyclase type 5", "gene_name": "Adcy5", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSGSKSVSPPGYAAQTAASPAPRGGPEHRAAWGEADSRANGYPHAPGGSTRGSTKRSGGAVTPQQQQRLASRWRGGDDDEDPPLSGDDPLAGGFGFSFRSKSAWQERGGDDGGRGSRRQRRGAAGGGSTRAPPAGGSGSSAAAAAAAGGTEVRPRSVELGLEERRGKGRAAEELEPGTGIVEDGDGSEDGGSSVASGSGTGAVLSLGACCLALLQIFRSKKFPSDKLERLYQRYFFRLNQSSLTMLMAVLVLVCLVMLAFHAARPPLQIAYLAVLAAAVGVILIMAVLCNRAAFHQDHMGLACYALIAVVLAVQVVGLLLPQPRSASEGIWWTVFFIYTIYTLLPVRMRAAVLSGVLLSALHLAISLHTNSQDQFLLKQLVSNVLIFSCTNIVGVCTHYPAEVSQRQAFQETRECIQARLHSQRENQQQERLLLSVLPRHVAMEMKADINAKQEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQELVMTLNELFARFDKLAAENHCLRIKILGDCYYCVSGLPEARADHAHCCVEMGMDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGKAGRIHITKATLNYLNGDYEVEPGCGGDRNAYLKEHSIETFLILSCTQKRKEEKAMIAKMNRQRTNSIGHNPPHWGAERPFYNHLGGNQVSKEMKRMGFEDPKDKNAQESANPEDEVDEFLGRAIDARSIDRLRSEHVRKFLLTFREPDLEKKYSKQVDDRFGAYVACASLVFLFICFVQITIVPHSLFMLSFYLSCFLLLALVVFVSVIYACVKLFPTPLQTLSRKIVRSKKNSTLVGVFTITLVFLSAFVNMFMCNSKNLVGCLAEEHNITVNQVNACHVMESAFNYSLGDEQGFCGSPQPNCNFPEYFTYSVLLSLLACSVFLQISCIGKLVLMLAIEFIYVLIVEVPGVTLFDNADLLVTANAIDFSNNGTSQCPEHATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKLQATEEKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDELYYQSCECVAVMFASIANFSEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLEKIKTIGSTYMAASGLNDSTYDKAGKTHIKAIADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIGARKPQYDIWGNTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPLS", "length": 1262 }, "evidence": [ { "id": "45924046", "url": "http://www.informatics.jax.org/homology/45924046", "database": "MGI" }, { "id": "O95622", "url": "https://omabrowser.org/oma/group/O95622/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q04400-1", "protein_name": "Adenylate cyclase type 5", "gene_name": "Adcy5", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSGSKSVSPPGYAAQTAASPAPRGGPEHRAAWGEADSRANGYPHAPGGSTRGSTKRSGGAVTPQQQQRLASRWRGGDDDEDPPLSGDDPLVGGFGFSFRSKSAWQERGGDDGGRGSRRQRRGAAGGGSTRAPPAGGSGSSAAAAAAAGGTEVRPRSVEVGLEERRGKGRAAEELEPGTGTVEDGDGSEDGGSSVASGSGTGTVLSLGACCLALLQIFRSKKFPSDKLERLYQRYFFRLNQSSLTMLMAVLVLVCLVMLAFHAARPPLQVVYLAVLAAAVGVILIMAVLCNRAAFHQDHMGLACYALIAVVLAVQVVGLLLPQPRSASEGIWWTVFFIYTIYTLLPVRMRAAVLSGVLLSALHLAISLHTNAQDQFLLKQLVSNVLIFSCTNIVGVCTHYPAEVSQRQAFQETRECIQARLHSQRENQQQERLLLSVLPRHVAMEMKADINAKQEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQELVMTLNELFARFDKLAAENHCLRIKILGDCYYCVSGLPEARADHAHCCVEMGMDMIEAISSVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGKAGRIHITKATLNYLNGDYEVEPGCGGERNAYLKEHSIETFLILRCTQKRKEEKAMIAKMNRQRTNSIGHNPPHWGAERPFYNHLGGNQVSKEMKRMGFEDPKDKNAQESANPEDEVDEFLGRAIDARSIDRLRSEHVRKFLLTFREPDLEKKYSKQVDDRFGAYVACASLVFLFICFVQITIVPHSLFMLSFYLSCFLLLALVVFISVIYACVKLFPTPLQTLSRKIVRSKKNSTLVGVFTITLVFLSAFVNMFMCNSKNLVGCLAEEHNITVNQVNACHVMESAFNYSLGDEQGFCGSPQSNCNFPEYFTYSVLLSLLACSVFLQISCIGKLVLMLAIELIYVLIVEVPGVTLFDNADLLVTANAIDFSNNGTSQCPEHATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKLQATEEKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDELYYQSCECVAVMFASIANFSEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLEKIKTIGSTYMAASGLNDSTYDKAGKTHIKALADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIGARKPQYDIWGNTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPLS", "length": 1262 }, "evidence": [ { "id": "45924046", "url": "http://www.informatics.jax.org/homology/45924046", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "adenylate cyclase activity", "id": "GO:0004016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004016", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "adenylate cyclase binding", "id": "GO:0008179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008179", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 12, "go_terms": [ { "name": "cAMP biosynthetic process", "id": "GO:0006171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006171", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "cellular response to forskolin", "id": "GO:1904322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "G protein-coupled adenosine receptor signaling pathway", "id": "GO:0001973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001973", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "adenylate cyclase-activating dopamine receptor signaling pathway", "id": "GO:0007191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007191", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting dopamine receptor signaling pathway", "id": "GO:0007195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007195", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" }, { "name": "regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0061178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061178", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1079, "end_pos": 1081, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1136, "end_pos": 1138, "annotation": "n_glycosylation_sequon" }, { "start_pos": 238, "end_pos": 240, "annotation": "n_glycosylation_sequon" }, { "start_pos": 467, "end_pos": 469, "annotation": "n_glycosylation_sequon" }, { "start_pos": 833, "end_pos": 835, "annotation": "n_glycosylation_sequon" }, { "start_pos": 870, "end_pos": 872, "annotation": "n_glycosylation_sequon" }, { "start_pos": 887, "end_pos": 889, "annotation": "n_glycosylation_sequon" }, { "start_pos": 972, "end_pos": 974, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Phosphorylated by RAF1.", "evidence": [ { "database": "UniProtKB", "id": "O95622", "url": "https://www.uniprot.org/uniprot/O95622" }, { "database": "PubMed", "id": "15385642", "url": "https://glygen.org/publication/PubMed/15385642" } ] } ], "interactions": [], "reactions": [ { "id": "15389", "name": "", "equation": "ATP = 3',5'-cyclic AMP + diphosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q03343-1", "Q04400-1", "P26769-1", "P26770-1", "P21932-1", "P40146-1", "Q9Z286-1", "F1LQT1-1", "D4A3N4-1", "M0R5U4-1", "P51828-1", "O43306-1", "O60503-1", "Q08462-1", "Q96PN6-1", "P40145-1", "O95622-1", "Q08828-1", "O60266-1", "Q8NFM4-1", "Q8VHH7-1", "Q91WF3-1", "P83855-1", "O88444-1", "P84309-1", "P97490-1", "Q01341-1", "P51829-1", "P51830-1", "Q80TL1-1", "Q8C0T9-1", "P08678-1", "Q03100-1", "Q03101-1", "Q55F68-1", "Q9VP76-1", "Q9VW60-1", "P32870-1", "Q9VK50-1", "Q9V9R3-1", "A8JNU1-1", "Q9W038-1", "Q9W037-1", "Q9VK51-1", "M9PEP2-1", "Q8IRF5-1", "Q9VK52-1", "Q9VK53-1" ], "evidence": [ { "id": "15389", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/15389" } ] }, { "id": "R-HSA-111930", "name": "Adenylate cyclase produces cAMP", "equation": "", "summary": "Adenylate cyclase is responsive to calcium and calmodulin and produces cAMP. One important physiological role for Calmodulin is the regulation of adenylylcyclases. Four of the ten known adenylylcyclases are calcium sensitive, in particular type 8 (AC8).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60503-1", "O43306-1", "Q08462-1", "P51828-1", "O60266-1", "O95622-1", "P40145-1", "Q08828-1", "Q8NFM4-1" ], "evidence": [ { "id": "R-HSA-111930", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-111930" } ] }, { "id": "R-HSA-163617", "name": "G alpha (s) activates adenylate cyclase", "equation": "", "summary": "G(s)-alpha:GTP binds to inactive adenylate cyclase, causing a conformational transition in adenylate cyclase exposing the catalytic site and activating it.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60503-1", "O43306-1", "Q08462-1", "P51828-1", "O60266-1", "O95622-1", "P40145-1", "Q08828-1", "Q8NFM4-1" ], "evidence": [ { "id": "R-HSA-163617", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-163617" } ] }, { "id": "R-HSA-164377", "name": "Activated Adenylate cyclase catalyses cAMP synthesis", "equation": "", "summary": "Activated adenylate cyclase associated with the plasma membrane catalyzes the reaction of cytosolic ATP to form 3',5'-cyclicAMP and pyrophosphate ().", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-30389" ], "enzyme_list": [ "O60503-1", "O43306-1", "Q08462-1", "P51828-1", "O60266-1", "O95622-1", "P40145-1", "Q08828-1", "Q8NFM4-1" ], "evidence": [ { "id": "R-HSA-164377", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-164377" } ] }, { "id": "R-HSA-170666", "name": "Adenylate cyclase increases the GTPase activity of G alpha-olf", "equation": "", "summary": "G proteins can deactivate themselves via their intrinsic GTPase activity, which hydrolyzes GTP to GDP. Effectors such as adenylate cyclase can increase the G protein GTPase rate, acting like GTPase-activating proteins (GAPs).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60503-1", "O43306-1", "Q08462-1", "P51828-1", "O60266-1", "O95622-1", "P40145-1", "Q08828-1", "Q8NFM4-1" ], "evidence": [ { "id": "R-HSA-170666", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170666" } ] }, { "id": "R-HSA-170671", "name": "G alpha-olf:GTP binds to Gi alpha1:GTP:adenylate cyclase complex", "equation": "", "summary": "The chronic activation of mu-opioid receptors, which, when coupled to pertussis toxin-sensitive Galpha-i/o proteins, inhibit adenylyl cyclase (AC).", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60503-1", "O43306-1", "Q08462-1", "P51828-1", "O60266-1", "O95622-1", "P40145-1", "Q08828-1", "Q8NFM4-1" ], "evidence": [ { "id": "R-HSA-170671", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170671" } ] }, { "id": "R-HSA-170672", "name": "Galpha-olf:GTP binds to adenylate cyclase and activates it", "equation": "", "summary": "G alpha-olf:GTP binds to inactive adenylate cyclase, causing a conformational transition in adenylate cyclase exposing the catalytic site and activating it.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60503-1", "O43306-1", "Q08462-1", "P51828-1", "O60266-1", "O95622-1", "P40145-1", "Q08828-1", "Q8NFM4-1" ], "evidence": [ { "id": "R-HSA-170672", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170672" } ] }, { "id": "R-HSA-170674", "name": "Dissociation of the Gi alpha:G olf complex", "equation": "", "summary": "Once the intrinsic GTPase hydrolyzes GTP to GDP, Galpha-i dissociates from adenylate cyclase, allowing it to re-associate with G-beta-gamma and starting a new cycle.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60503-1", "O43306-1", "Q08462-1", "P51828-1", "O60266-1", "O95622-1", "P40145-1", "Q08828-1", "Q8NFM4-1" ], "evidence": [ { "id": "R-HSA-170674", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170674" } ] }, { "id": "R-HSA-170676", "name": "Adenylate cyclase converts ATP into cyclic AMP", "equation": "", "summary": "Once activated, adenylate cyclase utilizes one molecule of ATP to synthesize one molecule of cyclic AMP and pyrophosphate.", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60503-1", "O43306-1", "Q08462-1", "P51828-1", "O60266-1", "O95622-1", "P40145-1", "Q08828-1", "Q8NFM4-1" ], "evidence": [ { "id": "R-HSA-170676", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170676" } ] }, { "id": "R-HSA-170677", "name": "The G alpha-olf:GDP:Adenylate cyclase complex dissociates", "equation": "", "summary": "Once the intrinsic GTPase hydrolyzes GTP to GDP, Galpha-olf dissociates from adenylate cyclase, allowing it to re-associate with G-beta-gamma and starting a new cycle.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60503-1", "O43306-1", "Q08462-1", "P51828-1", "O60266-1", "O95622-1", "P40145-1", "Q08828-1", "Q8NFM4-1" ], "evidence": [ { "id": "R-HSA-170677", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170677" } ] }, { "id": "R-HSA-170685", "name": "Adenylaye cyclase increases the GTPase activity of G alpha-olf", "equation": "", "summary": "G proteins can deactivate themselves via their intrinsic GTPase activity, which hydrolyzes GTP to GDP. Effectors such as adenylate cyclase can increase the G protein GTPase rate, acting like GTPase-activating proteins (GAPs).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60503-1", "O43306-1", "Q08462-1", "P51828-1", "O60266-1", "O95622-1", "P40145-1", "Q08828-1", "Q8NFM4-1" ], "evidence": [ { "id": "R-HSA-170685", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170685" } ] }, { "id": "R-HSA-170686", "name": "Adenylate cyclase increases the GTPase activity of Gi alpha", "equation": "", "summary": "G proteins can deactivate themselves via their intrinsic GTPase activity, which hydrolyzes GTP to GDP. Effectors such as adenylate cyclase can increase the G protein GTPase rate, acting like GTPase-activating proteins (GAPs).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60503-1", "O43306-1", "Q08462-1", "P51828-1", "O60266-1", "O95622-1", "P40145-1", "Q08828-1", "Q8NFM4-1" ], "evidence": [ { "id": "R-HSA-170686", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-170686" } ] }, { "id": "R-HSA-381607", "name": "Activated Adenylyl cyclase synthesizes cyclic AMP", "equation": "", "summary": "Activated adenylyl cyclase catalyzes the conversion of one molecule of ATP to one molecule of 3',5'-cyclic AMP (cAMP) and one molecule of pyrophosphate.", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43306-1", "O95622-1", "P40145-1" ], "evidence": [ { "id": "R-HSA-381607", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381607" } ] }, { "id": "R-HSA-381704", "name": "G(s):GTP activates Adenylyl cyclase", "equation": "", "summary": "By analogy with adenylyl cyclases I and II, adenylyl cyclase VIII is activated by G(s) alpha:GTP by protein-protein interaction between G(s) alpha and the C2 region of adenylyl cyclase VIII, forming a complex. Adenylyl cyclase VIII is present in beta cells of rat and is activated by both G(s) alpha:GTP and calcium:calmodulin, thus integrating signals from both GLP-1 via G(s) alpha and glucose via calcium. Human beta cells contain adenylyl cyclases V and VI, which are also activated by G(s) alpha:GTP, and may contain additional adenylyl cyclases.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43306-1", "O95622-1", "P40145-1" ], "evidence": [ { "id": "R-HSA-381704", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381704" } ] }, { "id": "R-HSA-392064", "name": "G alpha (z) inhibits adenylate cyclase", "equation": "", "summary": "G-proteins in the Gi class inhibit adenylate cyclase activity, decreasing the production of cAMP from ATP, which has many consequences but classically results in decreased activity of Protein Kinase A (PKA). cAMP also activates the cyclic nucleotide-gated ion channels, a process that is particularly important in olfactory cells. Experimental data for this reaction was obtained in vitro using rat G alpha (i) and dog Adenylate Cyclase.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60503-1", "O43306-1", "Q08462-1", "P51828-1", "O60266-1", "O95622-1", "P40145-1", "Q08828-1", "Q8NFM4-1" ], "evidence": [ { "id": "R-HSA-392064", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-392064" } ] }, { "id": "R-HSA-392129", "name": "Adenylate cyclase converts ATP to 3',5'-cyclic AMP (cAMP) and pyrophosphate", "equation": "", "summary": "The activation of adenylyl (adenylate) cyclase (AC) results in the production of adenosine-3',5'-monophosphate i.e. cyclic AMP. Humans have 9 genes encoding membrane-associated AC and one encoding a soluble AC. Two of the classes of heterotrimeric G-proteins are named according to their effect on AC; G(s) stimulates all membrane-bound ACs (the s in G(s) denotes AC stimulatory); the G(i) class inhibits some AC isoforms, particularly 5 and 6. Beta-gamma subunits of heterotrimeric G-proteins can also regulate AC. Ca2+/Calmodulin activates some AC isoforms (1, 8 and 3) but is inhibitory to others (5 and 6).", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60503-1", "O43306-1", "Q08462-1", "P51828-1", "O60266-1", "O95622-1", "P40145-1", "Q08828-1", "Q8NFM4-1" ], "evidence": [ { "id": "R-HSA-392129", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-392129" } ] }, { "id": "R-HSA-392206", "name": "G alpha (i) inhibits adenylate cyclase", "equation": "", "summary": "G-proteins in the Gi class inhibit adenylate cyclase activity, decreasing the production of cAMP from ATP, which has many consequences but classically results in decreased activity of Protein Kinase A (PKA). cAMP also activates the cyclic nucleotide-gated ion channels, a process that is particularly important in olfactory cells.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60503-1", "O43306-1", "Q08462-1", "P51828-1", "O60266-1", "O95622-1", "P40145-1", "Q08828-1", "Q8NFM4-1" ], "evidence": [ { "id": "R-HSA-392206", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-392206" } ] }, { "id": "R-HSA-400097", "name": "G-beta:G-gamma inhibits Adenylate cyclase", "equation": "", "summary": "Adenylyl cyclases V and VI are the particular adenylyl cyclases present in beta cells of the human pancreas. The G-protein beta-gamma complex interacts with adenylyl cyclases via protein-protein interactions with the C1 and C2 cytoplasmic loops of adenylyl cyclase. The interaction may produce either stimulation or inhibition of the adenylyl cyclase depending on the particular adenylyl cyclase. In the case of adenylyl cyclases V and VI the interaction inhibits cyclase activity.", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43306-1", "O95622-1" ], "evidence": [ { "id": "R-HSA-400097", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400097" } ] }, { "id": "R-HSA-5610727", "name": "GPR161 promotes cAMP production in a G alpha(s)-dependent manner", "equation": "", "summary": "cAMP is generated by the action of adenylate cyclases (reviewed in Sassone-Corsi, 2012). GPR161 is an orphan GPCR that has recently been identified as a negative regulator of Hh signaling that acts by increasing cellular cAMP levels in the absence of ligand. Overexpression of GPR161 increases cellular cAMP levels in a manner that depends on the G alpha s subunit, and depletion of GPR161 results in aberrant Hh signaling and a decrease in the ratio of processed GLI3R (Mukhopadhyay et al, 2013). These data suggest that GPR161 negatively regulates GLI processing in the absence of Hh signal by modulating PKA activity through cAMP levels (Mukhopadhyay et al, 2013; reviewed in Mukhopadhyay and Rohatgi, 2014).", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O60503-1", "Q96PN6-1", "O43306-1", "Q08462-1", "P51828-1", "O60266-1", "O95622-1", "P40145-1", "Q08828-1", "Q8NFM4-1" ], "evidence": [ { "id": "R-HSA-5610727", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5610727" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-30389", "participant_name": "cAMP [cytosol]", "crossref": [ { "id": "C00575", "database": "COMPOUND", "url": "" }, { "id": "58165", "database": "ChEBI", "url": "" }, { "id": "000003873977", "database": "ZINC", "url": "" }, { "id": "C00575", "database": "COMPOUND", "url": "" }, { "id": "000003873977", "database": "ZINC", "url": "" }, { "id": "58165", "database": "ChEBI", "url": "" }, { "id": "C00575", "database": "COMPOUND", "url": "" }, { "id": "58165", "database": "ChEBI", "url": "" }, { "id": "000003873977", "database": "ZINC", "url": "" }, { "id": "C00575", "database": "COMPOUND", "url": "" }, { "id": "58165", "database": "ChEBI", "url": "" }, { "id": "000003873977", "database": "ZINC", "url": "" }, { "id": "C00575", "database": "COMPOUND", "url": "" }, { "id": "58165", "database": "ChEBI", "url": "" }, { "id": "000003873977", "database": "ZINC", "url": "" }, { "id": "C00575", "database": "COMPOUND", "url": "" }, { "id": "58165", "database": "ChEBI", "url": "" }, { "id": "000003873977", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A8JNU1", "gene_name": "CG12436", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "A8JNU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8JNU1" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "A8JNU1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8JNU1" } ] } ] }, { "uniprot_ac": "D4A3N4", "gene_name": "Adcy1", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "D4A3N4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A3N4" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "D4A3N4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D4A3N4" } ] } ] }, { "uniprot_ac": "F1LQT1", "gene_name": "Adcy7", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "F1LQT1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1LQT1" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "F1LQT1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1LQT1" } ] } ] }, { "uniprot_ac": "M0R5U4", "gene_name": "Adcy9", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "M0R5U4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/M0R5U4" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "M0R5U4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/M0R5U4" } ] } ] }, { "uniprot_ac": "M9PEP2", "gene_name": "Ac13E", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "M9PEP2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/M9PEP2" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "M9PEP2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/M9PEP2" } ] } ] }, { "uniprot_ac": "O43306", "gene_name": "ADCY6", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "O43306", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43306" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "O43306", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43306" } ] } ] }, { "uniprot_ac": "O60266", "gene_name": "ADCY3", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "O60266", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60266" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "O60266", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60266" } ] } ] }, { "uniprot_ac": "O60503", "gene_name": "ADCY9", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "O60503", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60503" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "O60503", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60503" } ] } ] }, { "uniprot_ac": "O88444", "gene_name": "Adcy1", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "O88444", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88444" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "O88444", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O88444" } ] } ] }, { "uniprot_ac": "O95622", "gene_name": "ADCY5", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "O95622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95622" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "O95622", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95622" } ] } ] }, { "uniprot_ac": "P08678", "gene_name": "CYR1", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "P08678", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08678" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "P08678", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08678" } ] } ] }, { "uniprot_ac": "P21932", "gene_name": "Adcy3", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "P21932", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21932" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "P21932", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21932" } ] } ] }, { "uniprot_ac": "P26769", "gene_name": "Adcy2", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "P26769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P26769" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "P26769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P26769" } ] } ] }, { "uniprot_ac": "P26770", "gene_name": "Adcy4", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "P26770", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P26770" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "P26770", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P26770" } ] } ] }, { "uniprot_ac": "P32870", "gene_name": "rut", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "P32870", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32870" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "P32870", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32870" } ] } ] }, { "uniprot_ac": "P40145", "gene_name": "ADCY8", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "P40145", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40145" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "P40145", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40145" } ] } ] }, { "uniprot_ac": "P40146", "gene_name": "Adcy8", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "P40146", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40146" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "P40146", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P40146" } ] } ] }, { "uniprot_ac": "P51828", "gene_name": "ADCY7", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "P51828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51828" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "P51828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51828" } ] } ] }, { "uniprot_ac": "P51829", "gene_name": "Adcy7", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "P51829", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51829" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "P51829", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51829" } ] } ] }, { "uniprot_ac": "P51830", "gene_name": "Adcy9", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "P51830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51830" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "P51830", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51830" } ] } ] }, { "uniprot_ac": "P83855", "gene_name": "", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "P83855", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P83855" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "P83855", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P83855" } ] } ] }, { "uniprot_ac": "P84309", "gene_name": "Adcy5", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "P84309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P84309" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "P84309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P84309" } ] } ] }, { "uniprot_ac": "P97490", "gene_name": "Adcy8", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "P97490", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97490" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "P97490", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97490" } ] } ] }, { "uniprot_ac": "Q01341", "gene_name": "Adcy6", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q01341", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01341" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q01341", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01341" } ] } ] }, { "uniprot_ac": "Q03100", "gene_name": "acaA", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q03100", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03100" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q03100", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03100" } ] } ] }, { "uniprot_ac": "Q03101", "gene_name": "acgA", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q03101", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03101" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q03101", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03101" } ] } ] }, { "uniprot_ac": "Q03343", "gene_name": "Adcy6", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q03343", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03343" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q03343", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q03343" } ] } ] }, { "uniprot_ac": "Q04400", "gene_name": "Adcy5", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q04400", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04400" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q04400", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04400" } ] } ] }, { "uniprot_ac": "Q08462", "gene_name": "ADCY2", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q08462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08462" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q08462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08462" } ] } ] }, { "uniprot_ac": "Q08828", "gene_name": "ADCY1", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q08828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08828" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q08828", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q08828" } ] } ] }, { "uniprot_ac": "Q55F68", "gene_name": "acrA", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q55F68", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55F68" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q55F68", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q55F68" } ] } ] }, { "uniprot_ac": "Q80TL1", "gene_name": "Adcy2", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q80TL1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80TL1" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q80TL1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q80TL1" } ] } ] }, { "uniprot_ac": "Q8C0T9", "gene_name": "Adcy10", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q8C0T9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8C0T9" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q8C0T9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8C0T9" } ] } ] }, { "uniprot_ac": "Q8IRF5", "gene_name": "CG8970", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q8IRF5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IRF5" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q8IRF5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IRF5" } ] } ] }, { "uniprot_ac": "Q8NFM4", "gene_name": "ADCY4", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q8NFM4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NFM4" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q8NFM4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NFM4" } ] } ] }, { "uniprot_ac": "Q8VHH7", "gene_name": "Adcy3", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q8VHH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VHH7" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q8VHH7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VHH7" } ] } ] }, { "uniprot_ac": "Q91WF3", "gene_name": "Adcy4", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q91WF3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91WF3" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q91WF3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q91WF3" } ] } ] }, { "uniprot_ac": "Q96PN6", "gene_name": "ADCY10", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q96PN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96PN6" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q96PN6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96PN6" } ] } ] }, { "uniprot_ac": "Q9V9R3", "gene_name": "Ac3", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q9V9R3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V9R3" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q9V9R3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V9R3" } ] } ] }, { "uniprot_ac": "Q9VK50", "gene_name": "ACXE", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q9VK50", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VK50" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q9VK50", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VK50" } ] } ] }, { "uniprot_ac": "Q9VK51", "gene_name": "ACXA", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q9VK51", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VK51" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q9VK51", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VK51" } ] } ] }, { "uniprot_ac": "Q9VK52", "gene_name": "ACXB", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q9VK52", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VK52" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q9VK52", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VK52" } ] } ] }, { "uniprot_ac": "Q9VK53", "gene_name": "ACXC", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q9VK53", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VK53" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q9VK53", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VK53" } ] } ] }, { "uniprot_ac": "Q9VP76", "gene_name": "Ac78C", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q9VP76", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VP76" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q9VP76", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VP76" } ] } ] }, { "uniprot_ac": "Q9VW60", "gene_name": "Ac76E", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q9VW60", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VW60" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q9VW60", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VW60" } ] } ] }, { "uniprot_ac": "Q9W037", "gene_name": "CG8970", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q9W037", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W037" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q9W037", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W037" } ] } ] }, { "uniprot_ac": "Q9W038", "gene_name": "ACXD", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q9W038", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W038" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q9W038", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W038" } ] } ] }, { "uniprot_ac": "Q9Z286", "gene_name": "Adcy10", "activity": [ { "ec_number": "4.6.1.1", "activity": "ATP = 3',5'-cyclic AMP + diphosphate.", "evidence": [ { "id": "Q9Z286", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z286" } ] }, { "ec_number": "4.6.1.1", "activity": "", "evidence": [ { "id": "Q9Z286", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Z286" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 870, 887 ], "o_linked_sites": [], "snv_sites": [ 6, 42, 291, 323, 499, 722, 829, 859, 872, 887, 889, 1056, 1126, 1137, 1182, 1206, 1210 ], "glycation_sites": [], "phosphorylation_sites": [ 96, 155, 368, 666, 754, 1011 ], "sequon_annotation_sites": [ { "start_pos": 1079, "end_pos": 1081 }, { "start_pos": 1136, "end_pos": 1138 }, { "start_pos": 238, "end_pos": 240 }, { "start_pos": 467, "end_pos": 469 }, { "start_pos": 833, "end_pos": 835 }, { "start_pos": 870, "end_pos": 872 }, { "start_pos": 887, "end_pos": 889 }, { "start_pos": 972, "end_pos": 974 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "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": 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_reported_with_glycan", "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_predicted", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 } ], "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": 19 }, { "field": "total_sites", "count": 17 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 10 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 9 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 320 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }