{ "uniprot_canonical_ac": "O75916-1", "uniprot_ac": "O75916", "uniprot_id": "RGS9_HUMAN", "mass": { "chemical_mass": 76966.0, "monoisotopic_mass": 76966.0 }, "refseq": { "ac": "NP_001075424", "name": "regulator of G-protein signaling 9 isoform 2", "summary": "This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075424" }, "gene_names": [ { "name": "RGS9", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75916", "id": "O75916" }, { "name": "PERRS; PERRS1; RGS9L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075424", "id": "NP_001075424" }, { "name": "RGS9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075424", "id": "NP_001075424" } ], "protein_names": [ { "name": "Regulator of G-protein signaling 9", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75916" }, { "name": "RGS9", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75916" }, { "name": "regulator of G-protein signaling 9 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075424", "id": "NP_001075424" }, { "name": "regulator of G-protein signalling 9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075424", "id": "NP_001075424" } ], "function": [ { "annotation": "Five unrelated patients with recessive mutations in the genes encoding either RGS9 or R9AP who report difficulty adapting to sudden changes in luminance levels mediated by cones", "evidence": [ { "database": "RefSeq", "id": "NP_001075424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075424" }, { "database": "PubMed", "id": "14702087", "url": "https://glygen.org/publication/PubMed/14702087" } ] }, { "annotation": "Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to GNAT1. Involved in phototransduction; key element in the recovery phase of visual transduction (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O75916", "url": "https://www.uniprot.org/uniprot/O75916#function" } ] }, { "annotation": "The GAP activity of RGS9-2 showed a strong receptor preference for D2R over MOR. Finally, RGS7 displayed an four times greater GAP activity relative to RGS9-2.", "evidence": [ { "database": "RefSeq", "id": "NP_001075424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075424" }, { "database": "PubMed", "id": "23857581", "url": "https://glygen.org/publication/PubMed/23857581" } ] }, { "annotation": "These findings indicate a role for RGS9 gene polymorphisms in heroin dependence and may be informative for future genetic or biological studies on heroin dependence.", "evidence": [ { "database": "RefSeq", "id": "NP_001075424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075424" }, { "database": "PubMed", "id": "25591550", "url": "https://glygen.org/publication/PubMed/25591550" } ] }, { "annotation": "This case series highlights the clinical presentations and features of 5 affected children (3 Arab families) who harbored the same homozygous RGS9 frameshift mutation, which seems to represent a founder effect for the Arabian Peninsula.", "evidence": [ { "database": "RefSeq", "id": "NP_001075424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075424" }, { "database": "PubMed", "id": "29107794", "url": "https://glygen.org/publication/PubMed/29107794" } ] }, { "annotation": "This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001075424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075424" } ] }, { "annotation": "To identify single-nucleotide polymorphisms that contribute to the genetic susceptibility to schizophrenia, we examined the potential association between schizophrenia and 9 single nucleotide polymorphisms in the G-protein signaling 9 gene Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001075424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075424" }, { "database": "PubMed", "id": "26345773", "url": "https://glygen.org/publication/PubMed/26345773" } ] } ], "disease": [ { "disease_id": "DOID:0050335", "recommended_name": { "id": "DOID:0050335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050335", "name": "bradyopsia", "description": "A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions." }, "synonyms": [ { "id": "DOID:0050335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050335", "name": "prolonged electroretinal response suppression", "description": "" }, { "id": "MONDO:0012033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012033", "name": "bradyopsia", "description": "Bradyopsia is characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia." }, { "id": "MONDO:0012033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012033", "name": "PERRS", "description": "" }, { "id": "MONDO:0012033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012033", "name": "bradyopsia", "description": "" }, { "id": "MONDO:0012033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012033", "name": "prolonged electroretinal response suppression", "description": "" }, { "id": "MIM:608415", "resource": "MIM", "url": "https://www.omim.org/entry/608415", "name": "Prolonged electroretinal response suppression 1", "description": "Prolonged electroretinal response suppression 1" } ], "evidence": [ { "id": "608415", "database": "MIM", "url": "https://www.omim.org/entry/608415" } ] }, { "disease_id": "DOID:0070363", "recommended_name": { "id": "DOID:0070363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070363", "name": "bradyopsia 1", "description": "A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24." }, "synonyms": [ { "id": "DOID:0070363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070363", "name": "prolonged electroretinal response suppression 1", "description": "" }, { "id": "MONDO:0012033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012033", "name": "bradyopsia", "description": "Bradyopsia is characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia." }, { "id": "MONDO:0012033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012033", "name": "PERRS", "description": "" }, { "id": "MONDO:0012033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012033", "name": "bradyopsia", "description": "" }, { "id": "MONDO:0012033", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012033", "name": "prolonged electroretinal response suppression", "description": "" }, { "id": "MIM:608415", "resource": "MIM", "url": "https://www.omim.org/entry/608415", "name": "Prolonged electroretinal response suppression 1", "description": "Prolonged electroretinal response suppression 1" } ], "evidence": [ { "id": "608415", "database": "MIM", "url": "https://www.omim.org/entry/608415" } ] } ], "snv": [ { "evidence": [ { "id": "O75916", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75916" } ], "glycoeffect": [], "start_pos": 385, "end_pos": 385, "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": "17", "chr_pos": "65204251", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R385", "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: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": 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"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, 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"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": "O75916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75916" } ], "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 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"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", 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"" }, { "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": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75916" } ], "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 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75916" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75916" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75916", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75916" } ], "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": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75916", "url": "https://www.uniprot.org/uniprot/O75916" } ], "common_name": "Human" } ], "gene": [ { "name": "RGS9", "url": "https://www.uniprot.org/uniprot/O75916", "locus": { "chromosome": "17", "start_pos": 65227703, "end_pos": 65100812, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000108370", "url": "https://www.ensembl.org/id/ENSG00000108370" } ] } } ], "crossref": [ { "id": "ENSG00000108370", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108370", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75916", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75916", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00068", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00068", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd04450", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04450", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd08739", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd08739", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "RGS9", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=RGS9", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "8787", "url": "https://www.ncbi.nlm.nih.gov/gene/8787", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "10004", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10004", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75916", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75916*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000591", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000591", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015898", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015898", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016137", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016137", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036284", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036284", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036305", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036305", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036388", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036388", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036390", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036390", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR040759", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040759", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR044926", "url": "https://www.ebi.ac.uk/interpro/entry/IPR044926", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047016", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047016", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047017", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047017", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR047077", "url": "https://www.ebi.ac.uk/interpro/entry/IPR047077", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:8787", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8787", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604067", "url": "http://www.omim.org/entry/604067", "database": "MIM", "categories": [ "Other" ] }, { "id": "608415", "url": "http://www.omim.org/entry/608415", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75916", "url": "https://www.nextprot.org/entry/NX_O75916", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "PRMACLR", "url": "https://omabrowser.org/oma/group/PRMACLR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "22856at2759", "url": "http://www.orthodb.org/?query=22856at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45746", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45746", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45746:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45746:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00610", "url": "http://pfam.xfam.org/family/PF00610", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00615", "url": "http://pfam.xfam.org/family/PF00615", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00631", "url": "http://pfam.xfam.org/family/PF00631", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF18148", "url": "http://pfam.xfam.org/family/PF18148", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75916", "url": "https://pharos.nih.gov/targets/O75916", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75916", "url": "http://purl.obolibrary.org/obo/PR_O75916", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6814122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6814122", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001075424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075424", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A1B0GVU3", "url": "https://www.uniprot.org/uniprot/A0A1B0GVU3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GVU3-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GVU3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PD91", "url": "https://www.uniprot.org/uniprot/E9PD91", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PD91-1", "url": "https://www.uniprot.org/uniprot/E9PD91-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QL70", "url": "https://www.uniprot.org/uniprot/J3QL70", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QL70-1", "url": "https://www.uniprot.org/uniprot/J3QL70-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75916", "url": "https://www.uniprot.org/uniprot/O75916", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75916-1", "url": "https://www.uniprot.org/uniprot/O75916-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75916-2", "url": "https://www.uniprot.org/uniprot/O75916-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75916-3", "url": "https://www.uniprot.org/uniprot/O75916-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75916-4", "url": "https://www.uniprot.org/uniprot/O75916-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75916-5", "url": "https://www.uniprot.org/uniprot/O75916-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTIRHQGQQYRPRMAFLQKIEALVKDMQNPETGVRMQNQRVLVTSVPHAMTGSDVLQWIVQRLWISSLEAQNLGNFIVRYGYIYPLQDPKNLILKPDGSLYRFQTPYFWPTQQWPAEDTDYAIYLAKRNIKKKGILEEYEKENYNFLNQKMNYKWDFVIMQAKEQYRAGKERNKADRYALDCQEKAYWLVHRCPPGMDNVLDYGLDRVTNPNEVKVNQKQTVVAVKKEIMYYQQALMRSTVKSSVSLGGIVKYSEQFSSNDAIMSGCLPSNPWITDDTQFWDLNAKLVEIPTKMRVERWAFNFSELIRDPKGRQSFQYFLKKEFSGENLGFWEACEDLKYGDQSKVKEKAEEIYKLFLAPGARRWINIDGKTMDITVKGLKHPHRYVLDAAQTHIYMLMKKDSYARYLKSPIYKDMLAKAIEPQETTKKSSTLPFMRRHLRSSPSPVILRQLEEEAKAREAANTVDITQPGQHMAPSPHLTVYTGTCMPPSPSSPFSSSCRSPRKPFASPSRFIRRPSTTICPSPIRVALESSSGLEQKGECSGSMAPRGPSVTESSEASLDTSWPRSRPRAPPKARMALSFSRFLRRGCLASPVFARLSPKCPAVSHGRVQPLGDVGQQLPRLKSKRVANFFQIKMDVPTGSGTCLMDSEDAGTGESGDRATEKEVICPWESL", "length": 674, "header": "sp|O75916-1|RGS9_HUMAN Isoform 1 of Regulator of G-protein signaling 9 OS=Homo sapiens OX=9606 GN=RGS9 PE=1 SV=1 CANONICAL=O75916-1" }, "isoforms": [ { "isoform_ac": "A0A1B0GVU3-1", "url": "", "sequence": { "sequence": "MTIRYQGRQYRLRMAFLQKIEALVKDMQNPETGVRMQNQRVLVTSVPHAMTGSDVLQWIVQRLWISSLEAQNLGNFIVRYGYIYPLQDPKNLILKPDGSLYRFQTPYFWPTQQWPAEDTDYAIYLAKRNIKKKGILEEYEKENYNFLNQKMNYKWDFVIMQAKEQYRAGKERNKADRYALDCQEKAYWLVHRCPPGMDNVLDYGLDRVTNPNEVKVNQKQTVVAVKKEIMYYQQALMRSTVKSSVSLGGIVKYSEQFSSNDAIMSGCLPSNPWITDDTQFWDLNAKLVEIPTKMRVERWAFNFSELIRDPKGRQSFQYFLKKEFSGENLGFWEACEDLKYGDQSKVKEKAEEIYKLFLAPGARRWINIDGKTMDITVKGLKHPHRYVLDAAQTHIYMLMKKDSYARYLKSPIYKDMLAKAIEPQETTKKSSTLPFMRRHLRSSPSPVILRQLEEEAKAREAANTVDITQPGQHMAPSPHLTVYTGTCMPPSPSSPFSSSCRSPRKPFASPSRFIRRPSTTICPSPIRVALESSSGLEQKGECSGSMAPRGPSVTESSEASLDTSWPRSRPRAPPKARMALSFSRFLRRGCLASPVFARLSPKCPAVSHGRVQPLGDVGQQLPRLKSKRVANFFQIKMDVPTGSGTCLMDSEDAGTGESGDRATEKEVICPWESL", "length": 674, "header": "tr|A0A1B0GVU3-1|A0A1B0GVU3_HUMAN Computationally mapped isoform of Regulator of G-protein signaling 9 OS=Homo sapiens OX=9606 GN=RGS9 PE=1 SV=1 CANONICAL=O75916-1" }, "locus": { "chromosome": "17", "start_pos": 65227404, "end_pos": 65100986, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635833.1", "url": "https://www.ensembl.org/id/ENST00000635833.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490658.1", "url": "https://www.ensembl.org/id/ENSP00000490658.1" } ] } }, { "isoform_ac": "E9PD91-1", "url": "", "sequence": { "sequence": "MTIRHQGQQYRPRMAFLQKIEALVKDMQNPETGVRMQNQRVLVTSVPHAMTGSDVLQWIVQRLWISSLEAQNLGNFIVRYGYIYPLQDPKNLILKPDGSLYRFQTPYFWPTQQWPAEDTDYAIYLAKRNIKKKGILEEYEKENYNFLNQKMNYKWDFVIMQAKEQYRAGKERNKADRYALDCQEKAYWLVHRCPPGMDNVLDYGLDRVTNPNEVKKQTVVAVKKEIMYYQQALMRSTVKSSVSLGGIVKYSEQFSSNDAIMSGCLPSNPWITDDTQFWDLNAKLVEIPTKMRVERWAFNFSELIRDPKGRQSFQYFLKKEFSGENLGFWEACEDLKYGDQSKVKEKAEEIYKLFLAPGARRWINIDGKTMDITVKGLKHPHRYVLDAAQTHIYMLMKKDSYARYLKSPIYKDMLAKAIEPQETTKKSSTLPFMRRHLRSSPSPVILRQLEEEAKAREAANTVDITQPGQHMAPSPHLTVYTGTCMPPSPSSPFSSSCRSPRKPFASPSRFIRRPSTTICPSPIRVALESSSGLEQKGECSGSMAPRGPSVTESSEASLDTSWPRSRPRAPPKARMALSFSRFLRRGCLASPVFARLSPKCPAVSHGRVQPLGDVGQQLPRLKSKRVAK", "length": 628, "header": "tr|E9PD91-1|E9PD91_HUMAN Computationally mapped isoform of Regulator of G-protein signaling 9 OS=Homo sapiens OX=9606 GN=RGS9 PE=1 SV=3 CANONICAL=O75916-1" }, "locus": { "chromosome": "17", "start_pos": 65225487, "end_pos": 65137541, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443584.7", "url": "https://www.ensembl.org/id/ENST00000443584.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000405814.3", "url": "https://www.ensembl.org/id/ENSP00000405814.3" } ] } }, { "isoform_ac": "J3QL70-1", "url": "", "sequence": { "sequence": "MTIRHQGQQYRPRMAFLQKIEALVKDMQNPETGVRMQNQRVLVTSVPHAMTGSDVLQWIVQRLWISSLEAQNLGNFIVRYGYIYPLQDPKNLILKPDGSLYRFQTPYFWPTQQWPAEDTDYAIYLAKRNIKKKGILEEYEKENYNFLNQKMNYKWDFVIMQAKEQYRAGKERNKADRYALDCQEKAYWLVHRCPPGMDNVLDYGLDRVTNPNEVKVNQKQTVVAVKKEIMYYQQALMRSTVKSSVSLGGIVKYSEQFSSNDAIMSGCLPSNPWITDDTQFWDLNAKLVEIPTKMRVERWAFNFSELIRDPKGRQSFQYFLKKEFSGENLGFWEACEDLKYGDQSKVKEKAEEIYKLFLAPGARRWINIDGKTMDITVKGLKHPHRYVLDAAQTHIYMLMKKDSYARYLKSPIYKDMLAKAIEPQETTKKRQLHPPFYAASPALQPKPCHPETAGRGSQGPRSSQHCGHHPAGPAHGSQPPSDRVHRDLHAPVSF", "length": 494, "header": "tr|J3QL70-1|J3QL70_HUMAN Computationally mapped isoform of Regulator of G-protein signaling 9 OS=Homo sapiens OX=9606 GN=RGS9 PE=1 SV=1 CANONICAL=O75916-1" }, "locus": { "chromosome": "17", "start_pos": 65225072, "end_pos": 65137541, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000584234.5", "url": "https://www.ensembl.org/id/ENST00000584234.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463410.1", "url": "https://www.ensembl.org/id/ENSP00000463410.1" } ] } }, { "isoform_ac": "O75916-1", "url": "", "sequence": { "sequence": "MTIRHQGQQYRPRMAFLQKIEALVKDMQNPETGVRMQNQRVLVTSVPHAMTGSDVLQWIVQRLWISSLEAQNLGNFIVRYGYIYPLQDPKNLILKPDGSLYRFQTPYFWPTQQWPAEDTDYAIYLAKRNIKKKGILEEYEKENYNFLNQKMNYKWDFVIMQAKEQYRAGKERNKADRYALDCQEKAYWLVHRCPPGMDNVLDYGLDRVTNPNEVKVNQKQTVVAVKKEIMYYQQALMRSTVKSSVSLGGIVKYSEQFSSNDAIMSGCLPSNPWITDDTQFWDLNAKLVEIPTKMRVERWAFNFSELIRDPKGRQSFQYFLKKEFSGENLGFWEACEDLKYGDQSKVKEKAEEIYKLFLAPGARRWINIDGKTMDITVKGLKHPHRYVLDAAQTHIYMLMKKDSYARYLKSPIYKDMLAKAIEPQETTKKSSTLPFMRRHLRSSPSPVILRQLEEEAKAREAANTVDITQPGQHMAPSPHLTVYTGTCMPPSPSSPFSSSCRSPRKPFASPSRFIRRPSTTICPSPIRVALESSSGLEQKGECSGSMAPRGPSVTESSEASLDTSWPRSRPRAPPKARMALSFSRFLRRGCLASPVFARLSPKCPAVSHGRVQPLGDVGQQLPRLKSKRVANFFQIKMDVPTGSGTCLMDSEDAGTGESGDRATEKEVICPWESL", "length": 674, "header": "sp|O75916-1|RGS9_HUMAN Isoform 1 of Regulator of G-protein signaling 9 OS=Homo sapiens OX=9606 GN=RGS9 PE=1 SV=1 CANONICAL=O75916-1" }, "locus": { "chromosome": "17", "start_pos": 65227404, "end_pos": 65137541, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262406.10", "url": "https://www.ensembl.org/id/ENST00000262406.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000262406.9", "url": "https://www.ensembl.org/id/ENSP00000262406.9" } ] } }, { "isoform_ac": "O75916-2", "url": "", "sequence": { "sequence": "MTIRHQGQQYRPRMAFLQKIEALVKDMQNPETGVRMQNQRVLVTSVPHAMTGSDVLQWIVQRLWISSLEAQNLGNFIVRYGYIYPLQDPKNLILKPDGSLYRFQTPYFWPTQQWPAEDTDYAIYLAKRNIKKKGILEEYEKENYNFLNQKMNYKWDFVIMQAKEQYRAGKERNKADRYALDCQEKAYWLVHRCPPGMDNVLDYGLDRVTNPNEVKVNQKQTVVAVKKEIMYYQQALMRSTVKSSVSLGGIVKYSEQFSSNDAIMSGCLPSNPWITDDTQFWDLNAKLVEIPTKMRVERWAFNFSELIRDPKGRQSFQYFLKKEFSGENLGFWEACEDLKYGDQSKVKEKAEEIYKLFLAPGARRWINIDGKTMDITVKGLKHPHRYVLDAAQTHIYMLMKKDSYARYLKSPIYKDMLAKAIEPQETTKKSSTLPFMRRHLRSSPSPVILRQLEEEAKAREAANTVDITQ", "length": 469, "header": "sp|O75916-2|RGS9_HUMAN Isoform 2 of Regulator of G-protein signaling 9 OS=Homo sapiens OX=9606 GN=RGS9 PE=1 SV=1 CANONICAL=O75916-1" }, "locus": {} }, { "isoform_ac": "O75916-3", "url": "", "sequence": { "sequence": "MTIRHQGQQYRPRMAFLQKIEALVKDMQNPETGVRMQNQRVLVTSVPHAMTGSDVLQWIVQRLWISSLEAQNLGNFIVRYGYIYPLQDPKNLILKPDGSLYRFQTPYFWPTQQWPAEDTDYAIYLAKRNIKKKGILEEYEKENYNFLNQKMNYKWDFVIMQAKEQYRAGKERNKADRYALDCQEKAYWLVHRCPPGMDNVLDYGLDRVTNPNEVKKQTVVAVKKEIMYYQQALMRSTVKSSVSLGGIVKYSEQFSSNDAIMSGCLPSNPWITDDTQFWDLNAKLVEIPTKMRVERWAFNFSELIRDPKGRQSFQYFLKKEFSGENLGFWEACEDLKYGDQSKVKEKAEEIYKLFLAPGARRWINIDGKTMDITVKGLKHPHRYVLDAAQTHIYMLMKKDSYARYLKSPIYKDMLAKAIEPQETTKKSSTLPFMRRHLRSSPSPVILRQLEEEAKAREAANTVDITQVMSKLDRRSQLKKELPPK", "length": 484, "header": "sp|O75916-3|RGS9_HUMAN Isoform 3 of Regulator of G-protein signaling 9 OS=Homo sapiens OX=9606 GN=RGS9 PE=1 SV=1 CANONICAL=O75916-1" }, "locus": {} }, { "isoform_ac": "O75916-4", "url": "", "sequence": { "sequence": "MYYQQALMRSTVKSSVSLGGIVKYSEQFSSNDAIMSGCLPSNPWITDDTQFWDLNAKLVEIPTKMRVERWAFNFSELIRDPKGRQSFQYFLKKEFSGENLGFWEACEDLKYGDQSKVKEKAEEIYKLFLAPGARRWINIDGKTMDITVKGLKHPHRYVLDAAQTHIYMLMKKDSYARYLKSPIYKDMLAKAIEPQETTKKSSTLPFMRRHLRSSPSPVILRQLEEEAKAREAANTVDITQPGQHMAPSPHLTVYTGTCMPPSPSSPFSSSCRSPRKPFASPSRFIRRPSTTICPSPIRVALESSSGLEQKGECSGSMAPRGPSVTESSEASLDTSWPRSRPRAPPKARMALSFSRFLRRGCLASPVFARLSPKCPAVSHGRVQPLGDVGQQLPRLKSKRVANFFQIKMDVPTGSGTCLMDSEDAGTGESGDRATEKEVICPWESL", "length": 445, "header": "sp|O75916-4|RGS9_HUMAN Isoform 4 of Regulator of G-protein signaling 9 OS=Homo sapiens OX=9606 GN=RGS9 PE=1 SV=1 CANONICAL=O75916-1" }, "locus": {} }, { "isoform_ac": "O75916-5", "url": "", "sequence": { "sequence": "MTIRHQGQQYRPRMAFLQKIEALVKDMQNPETGVRMQNQRVLVTSVPHAMTGSDVLQWIVQRLWISSLEAQNLGNFIVRYGYIYPLQDPKNLILKPDGSLYRFQTPYFWPTQQWPAEDTDYAIYLAKRNIKKKGILEEYEKENYNFLNQKMNYKWDFVIMQAKEQYRAGKERNKADRYALDCQEKAYWLVHRCPPGMDNVLDYGLDRVTNPNEVKKQTVVAVKKEIMYYQQALMRSTVKSSVSLGGIVKYSEQFSSNDAIMSGCLPSNPWITDDTQFWDLNAKLVEIPTKMRVERWAFNFSELIRDPKGRQSFQYFLKKEFSGENLGFWEACEDLKYGDQSKVKEKAEEIYKLFLAPGARRWINIDGKTMDITVKGLKHPHRYVLDAAQTHIYMLMKKDSYARYLKSPIYKDMLAKAIEPQETTKKSSTLPFMRRHLRSSPSPVILRQLEEEAKAREAANTVDITQPGQHMAPSPHLTVYTGTCMPPSPSSPFSSSCRSPRKPFASPSRFIRRPSTTICPSPIRVALESSSGLEQKGECSGSMAPRGPSVTESSEASLDTSWPRSRPRAPPKARMALSFSRFLRRGCLASPVFARLSPKCPAVSHGRVQPLGDVGQQLPRLKSKRVANFFQIKMDVPTGSGTCLMDSEDAGTGESGDRATEKEVICPWESL", "length": 671, "header": "sp|O75916-5|RGS9_HUMAN Isoform 5 of Regulator of G-protein signaling 9 OS=Homo sapiens OX=9606 GN=RGS9 PE=1 SV=1 CANONICAL=O75916-1" }, "locus": { "chromosome": "17", "start_pos": 65227404, "end_pos": 65137541, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000449996.7", "url": "https://www.ensembl.org/id/ENST00000449996.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000396329.3", "url": "https://www.ensembl.org/id/ENSP00000396329.3" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 413, "end_pos": 413, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75916", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75916" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" } ], "site_lbl": "Tyr413" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Structure, alternative splicing, and expression of the human RGS9 gene.", "journal": "Gene", "date": "1999", "authors": "Zhang K, Howes KA, He W, Bronson JD, Pettenati MJ, Chen C, Palczewski K, Wensel TG, Baehr W", "evidence": [ { "database": "UniProtKB", "id": "O75916", "url": "https://www.uniprot.org/uniprot/O75916" } ], "reference": [ { "type": "PubMed", "id": "10564809", "url": "https://glygen.org/publication/PubMed/10564809" } ] }, { "title": "Src tyrosine kinase is a novel direct effector of G proteins.", "journal": "Cell", "date": "2000", "authors": "Ma YC, Huang J, Ali S, Lowry W, Huang XY", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "11007482", "url": "https://glygen.org/publication/PubMed/11007482" } ] }, { "title": "Regulators of G-protein signalling as new central nervous system drug targets.", "journal": "Nature reviews. 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Neurosci.", "date": "2003", "authors": "Martemyanov Kirill A, Lishko Polina V, Calero Nidia, Keresztes Gabor, Sokolov Maxim, Strissel Katherine J, Leskov Ilya B, Hopp Johnathan A, Kolesnikov Alexander V, Chen Ching-Kang, Lem Janis, Heller Stefan, Burns Marie E, Arshavsky Vadim Y", "evidence": [ { "database": "UniProtKB", "id": "O75916", "url": "https://www.uniprot.org/uniprot/O75916" } ], "reference": [ { "type": "PubMed", "id": "14614075", "url": "https://glygen.org/publication/PubMed/14614075" } ] }, { "title": "Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.", "journal": "Nature", "date": "2004", "authors": "Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP", "evidence": [ { "database": "UniProtKB", "id": "O75916", "url": "https://www.uniprot.org/uniprot/O75916" }, { "database": "RefSeq", "id": "NP_001075424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075424" } ], "reference": [ { "type": "PubMed", "id": "14702087", "url": "https://glygen.org/publication/PubMed/14702087" } ] }, { "title": "Phosducin-like protein acts as a molecular chaperone for G protein betagamma dimer assembly.", "journal": "The EMBO journal", "date": "2005", "authors": "Lukov GL, Hu T, McLaughlin JN, Hamm HE, Willardson BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6814122", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6814122" } ], "reference": [ { "type": "PubMed", "id": "15889144", "url": "https://glygen.org/publication/PubMed/15889144" } ] }, { "title": "The GAPs, GEFs, and GDIs of heterotrimeric G-protein alpha subunits.", "journal": "International journal of biological sciences", "date": "2005", "authors": "Siderovski DP, Willard FS", "evidence": [ { "database": "Reactome", "id": "R-HSA-418594", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-418594" } ], "reference": [ { "type": "PubMed", "id": "15951850", "url": 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