{ "uniprot_canonical_ac": "O75147-3", "uniprot_ac": "O75147", "uniprot_id": "OBSL1_HUMAN", "mass": { "chemical_mass": 206947.0, "monoisotopic_mass": 206947.0 }, "refseq": { "ac": "NP_001166879", "name": "obscurin-like protein 1 isoform 3 precursor", "summary": "Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166879" }, "gene_names": [ { "name": "OBSL1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75147", "id": "O75147" }, { "name": "KIAA0657", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75147", "id": "O75147" }, { "name": "OBSL1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166879", "id": "NP_001166879" } ], "protein_names": [ { "name": "Obscurin-like protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75147" }, { "name": "obscurin-like protein 1 isoform 3 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166879", "id": "NP_001166879" }, { "name": "obscurin-like protein 1; obscurin like 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166879", "id": "NP_001166879" } ], "function": [ { "annotation": "A rare cause of syndromic short stature: 3M syndrome in three families.", "evidence": [ { "database": "RefSeq", "id": "NP_001166879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166879" }, { "database": "PubMed", "id": "33258289", "url": "https://glygen.org/publication/PubMed/33258289" } ] }, { "annotation": "Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons.", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147#function" }, { "database": "PubMed", "id": "24793695", "url": "https://glygen.org/publication/PubMed/24793695" }, { "database": "PubMed", "id": "21572988", "url": "https://glygen.org/publication/PubMed/21572988" }, { "database": "PubMed", "id": "24793696", "url": "https://glygen.org/publication/PubMed/24793696" } ] }, { "annotation": "Crystal structure of the obscurin(-like-1):myomesin complex reveals a trans-complementation mechanism whereby an incomplete immunoglobulin-like domain assimilates an isoform-specific myomesin interdomain sequence.", "evidence": [ { "database": "RefSeq", "id": "NP_001166879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166879" }, { "database": "PubMed", "id": "27989621", "url": "https://glygen.org/publication/PubMed/27989621" } ] }, { "annotation": "Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001166879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166879" } ] }, { "annotation": "Loss of OBSL1 leads to downregulation of CUL7 and results in primordial growth disorder 3-M syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001166879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166879" }, { "database": "PubMed", "id": "19481195", "url": "https://glygen.org/publication/PubMed/19481195" } ] }, { "annotation": "N-terminal Ig-domains of Obsl1 and Obscurin (Obsc) bind to titin-M10 and myomesin. Titin mutations, linked to limb-girdle muscular dystrophy 2J (LGMD2J) or Salih myopathy, weaken or abrogate titin-Obsc and titin-Obsl1 binding.", "evidence": [ { "database": "RefSeq", "id": "NP_001166879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166879" }, { "database": "PubMed", "id": "18477606", "url": "https://glygen.org/publication/PubMed/18477606" } ] }, { "annotation": "Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.", "evidence": [ { "database": "RefSeq", "id": "NP_001166879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166879" }, { "database": "PubMed", "id": "34597859", "url": "https://glygen.org/publication/PubMed/34597859" } ] }, { "annotation": "Report the cloning and characterization of OBSL1; OBSL1 is located on human chromosome 2q35 within 100 kb of SPEG, another gene related to obscurin", "evidence": [ { "database": "RefSeq", "id": "NP_001166879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166879" }, { "database": "PubMed", "id": "17289344", "url": "https://glygen.org/publication/PubMed/17289344" } ] }, { "annotation": "The mutational spectrum of CUL7, OBSL1, and investigation of genotype-phenotype correlation in 3M syndrome has been reported.", "evidence": [ { "database": "RefSeq", "id": "NP_001166879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166879" }, { "database": "PubMed", "id": "30980518", "url": "https://glygen.org/publication/PubMed/30980518" } ] }, { "annotation": "Three M syndrome 2 in two Indian patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001166879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166879" }, { "database": "PubMed", "id": "33135300", "url": "https://glygen.org/publication/PubMed/33135300" } ] } ], "disease": [ { "disease_id": "DOID:0060241", "recommended_name": { "id": "DOID:0060241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060241", "name": "3-M syndrome", "description": "A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities." }, "synonyms": [ { "id": "DOID:0060241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060241", "name": "Le Merrer syndrome", "description": "" }, { "id": "DOID:0060241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060241", "name": "Miller-McKusick-Malvaux syndrome", "description": "" }, { "id": "DOID:0060241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060241", "name": "Yakut short stature syndrome", "description": "" }, { "id": "DOID:0060241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060241", "name": "dolichospondylic dysplasia", "description": "" }, { "id": "DOID:0060241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060241", "name": "gloomy face syndrome", "description": "" }, { "id": "DOID:0060241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060241", "name": "three M syndrome", "description": "" }, { "id": "MONDO:0013039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013039", "name": "3M syndrome 2", "description": "Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene." }, { "id": "MONDO:0013039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013039", "name": "3-M syndrome 2", "description": "" }, { "id": "MONDO:0013039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013039", "name": "3-M syndrome caused by mutation in OBSL1", "description": "" }, { "id": "MONDO:0013039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013039", "name": "3M syndrome 2", "description": "" }, { "id": "MONDO:0013039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013039", "name": "OBSL1 3-M syndrome", "description": "" }, { "id": "MONDO:0013039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013039", "name": "three M syndrome 2", "description": "" }, { "id": "MONDO:0013039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013039", "name": "three M syndrome type 2", "description": "" }, { "id": "MONDO:0013039", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013039", "name": "3M2", "description": "" }, { "id": "MONDO:0013627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013627", "name": "3M syndrome 3", "description": "Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene." }, { "id": "MONDO:0013627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013627", "name": "3-M syndrome 3", "description": "" }, { "id": "MONDO:0013627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013627", "name": "3-M syndrome caused by mutation in CCDC8", "description": "" }, { "id": "MONDO:0013627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013627", "name": "3M syndrome 3", "description": "" }, { "id": "MONDO:0013627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013627", "name": "CCDC8 3-M syndrome", "description": "" }, { "id": "MONDO:0013627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013627", "name": "three M syndrome 3", "description": "" }, { "id": "MONDO:0013627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013627", "name": "three M syndrome type 3", "description": "" }, { "id": "MONDO:0013627", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013627", "name": "3M3", "description": "" }, { "id": "MONDO:0010117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010117", "name": "3M syndrome 1", "description": "Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene." }, { "id": "MONDO:0010117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010117", "name": "3-M syndrome 1", "description": "" }, { "id": "MONDO:0010117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010117", "name": "3-M syndrome caused by mutation in CUL7", "description": "" }, { "id": "MONDO:0010117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010117", "name": "3-M syndrome caused by mutation in Cul7", "description": "" }, { "id": "MONDO:0010117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010117", "name": "CUL7 3-M syndrome", "description": "" }, { "id": "MONDO:0010117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010117", "name": "Cul7 3-M syndrome", "description": "" }, { "id": "MONDO:0010117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010117", "name": "three M syndrome 1", "description": "" }, { "id": "MONDO:0010117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010117", "name": "three M syndrome type 1", "description": "" }, { "id": "MONDO:0010117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010117", "name": "3M syndrome", "description": "" }, { "id": "MONDO:0010117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010117", "name": "3M1", "description": "" }, { "id": "MONDO:0010117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010117", "name": "Dolichospondylic dysplasia", "description": "" }, { "id": "MONDO:0010117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010117", "name": "Le Merrer syndrome", "description": "" }, { "id": "MONDO:0010117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010117", "name": "Yakut short stature syndrome", "description": "" }, { "id": "MONDO:0010117", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010117", "name": "gloomy face syndrome", "description": "" }, { "id": "MIM:612921", "resource": "MIM", "url": "https://www.omim.org/entry/612921", "name": "3M syndrome 2", "description": "3M syndrome 2" }, { "id": "MIM:614205", "resource": "MIM", "url": "https://www.omim.org/entry/614205", "name": "3M syndrome 3", "description": "3M syndrome 3" }, { "id": "MIM:273750", "resource": "MIM", "url": "https://www.omim.org/entry/273750", "name": "3M syndrome 1", "description": "3M syndrome 1" } ], "evidence": [ { "id": "612921", "database": "MIM", "url": "https://www.omim.org/entry/612921" } ] } ], "snv": [ { "evidence": [ { "id": "O75147", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75147" } ], "glycoeffect": [], "start_pos": 1056, "end_pos": 1056, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "G", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs763401035.", "chr_id": "2", "chr_pos": "219559285", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "G1056", "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: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": "" 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"description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs953189075", "database": "dbSNP", "url": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75147", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75147" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75147", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75147" } ], "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", 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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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O75147", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75147" } ], "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": "O75147", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75147" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O75147", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75147" } ], "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": [ 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}, { "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": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "common_name": "Human" } ], "gene": [ { "name": "OBSL1", "url": "https://www.uniprot.org/uniprot/O75147", "locus": { "chromosome": "2", "start_pos": 219550728, "end_pos": 219571859, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000124006", "url": "https://www.ensembl.org/id/ENSG00000124006" } ] } } ], "crossref": [ { "id": "ENSG00000124006", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000124006", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75147", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75147", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00063", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00063", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00096", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00096", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd04979", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04979", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd20967", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20967", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "OBSL1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=OBSL1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "23363", "url": "https://www.ncbi.nlm.nih.gov/gene/23363", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "29092", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29092", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75147", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75147*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003598", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003598", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003599", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003599", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003961", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003961", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR007110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013098", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013098", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036116", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036116", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036179", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:23363", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23363", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "610991", "url": "http://www.omim.org/entry/610991", "database": "MIM", "categories": [ "Other" ] }, { "id": "612921", "url": "http://www.omim.org/entry/612921", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75147", "url": "https://www.nextprot.org/entry/NX_O75147", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75147", "url": "https://oglcnac.org/atlas/detail/O75147", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O75147", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75147", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "KAEVRWY", "url": "https://omabrowser.org/oma/group/KAEVRWY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4633043at2759", "url": "http://www.orthodb.org/?query=4633043at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR35971", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR35971", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR35971:SF6", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR35971:SF6", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2CPC", "url": "https://www.rcsb.org/structure/2CPC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2E6P", "url": "https://www.rcsb.org/structure/2E6P", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2E6Q", "url": "https://www.rcsb.org/structure/2E6Q", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2LU7", "url": "https://www.rcsb.org/structure/2LU7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2LVC", "url": "https://www.rcsb.org/structure/2LVC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2WP3", "url": "https://www.rcsb.org/structure/2WP3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2WWK", "url": "https://www.rcsb.org/structure/2WWK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2WWM", "url": "https://www.rcsb.org/structure/2WWM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3KNB", "url": "https://www.rcsb.org/structure/3KNB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5FM5", "url": "https://www.rcsb.org/structure/5FM5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF07679", "url": "http://pfam.xfam.org/family/PF07679", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13927", "url": "http://pfam.xfam.org/family/PF13927", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75147", "url": "https://pharos.nih.gov/targets/O75147", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75147", "url": "http://purl.obolibrary.org/obo/PR_O75147", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001166879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166879", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75147-1", "url": "https://www.uniprot.org/uniprot/O75147-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75147-2", "url": "https://www.uniprot.org/uniprot/O75147-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75147-3", "url": "https://www.uniprot.org/uniprot/O75147-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75147-4", "url": "https://www.uniprot.org/uniprot/O75147-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKASSGDQGSPPCFLRFPRPVRVVSGAEAELKCVVLGEPPPVVVWEKGGQQLAASERLSFPADGAEHGLLLTAALPTDAGVYVCRARNAAGEAYAAAAVTVLEPPASDPELQPAERPLPSPGSGEGAPVFLTGPRSQWVLRGAEVVLTCRAGGLPEPTLYWEKDGMALDEVWDSSHFALQPGRAEDGPGASLALRILAARLPDSGVYVCHARNAHGHAQAGALLQVHQPPESPPADPDEAPAPVVEPLKCAPKTFWVNEGKHAKFRCYVMGKPEPEIEWHWEGRPLLPDRRRLMYRDRDGGFVLKVLYCQAKDRGLYVCAARNSAGQTLSAVQLHVKEPRLRFTRPLQDVEGREHGIAVLECKVPNSRIPTAWFREDQRLLPCRKYEQIEEGTVRRLIIHRLKADDDGIYLCEMRGRVRTVANVTVKGPILKRLPRKLDVLEGENAVLLVETLEAGVEGRWSRDGEELPVICQSSSGHMHALVLPGVTREDAGEVTFSLGNSRTTTLLRVKCVKHSPPGPPILAEMFKGHKNTVLLTWKPPEPAPETPFIYRLERQEVGSEDWIQCFSIEKAGAVEVPGDCVPSEGDYRFRICTVSGHGRSPHVVFHGSAHLVPTARLVAGLEDVQVYDGEDAVFSLDLSTIIQGTWFLNGEELKSNEPEGQVEPGALRYRIEQKGLQHRLILHAVKHQDSGALVGFSCPGVQDSAALTIQESPVHILSPQDRVSLTFTTSERVVLTCELSRVDFPATWYKDGQKVEESELLVVKMDGRKHRLILPEAKVQDSGEFECRTEGVSAFFGVTVQDPPVHIVDPREHVFVHAITSECVMLACEVDREDAPVRWYKDGQEVEESDFVVLENEGPHRRLVLPATQPSDGGEFQCVAGDECAYFTVTITDVSSWIVYPSGKVYVAAVRLERVVLTCELCRPWAEVRWTKDGEEVVESPALLLQKEDTVRRLVLPAVQLEDSGEYLCEIDDESASFTVTVTEPPVRIIYPRDEVTLIAVTLECVVLMCELSREDAPVRWYKDGLEVEESEALVLERDGPRCRLVLPAAQPEDGGEFVCDAGDDSAFFTVTVTAPPERIVHPAARSLDLHFGAPGRVELRCEVAPAGSQVRWYKDGLEVEASDALQLGAEGPTRTLTLPHAQPEDAGEYVCETRHEAITFNVILAEPPVQFLALETTPSPLCVAPGEPVVLSCELSRAGAPVVWSHNGRPVQEGEGLELHAEGPRRVLCIQAAGPAHAGLYTCQSGAAPGAPSLSFTVQVAEPPVRVVAPEAAQTRVRSTPGGDLELVVHLSGPGGPVRWYKDGERLASQGRVQLEQAGARQVLRVQGARSGDAGEYLCDAPQDSRIFLVSVEEPLLVKLVSELTPLTVHEGDDATFRCEVSPPDADVTWLRNGAVVTPGPQVEMAQNGSSRILTLRGCQLGDAGTVTLRAGSTATSARLHVRETELLFLRRLQDVRAEEGQDVCLEVETGRVGAAGAVRWVRGGQPLPHDSRLSMAQDGHIHRLFIHGVILADQGTYGCESHHDRTLARLSVRPRQLRVLRPLEDVTISEGGSATFQLELSQEGVTGEWARGGVQLYPGPKCHIHSDGHRHRLVLNGLGLADSGCVSFTADSLRCAARLIVREVPVTIVRGPHDLEVTEGDTATFECELSQALADVTWEKDGNALTPSPRLRLQALGTRRLLQLRRCGPSDAGTYSCAVGTARAGPVRLTVRERTVAVLSELRSVSAREGDGATFECTVSEVETTGRWELGGRPLRPGARVRIRQEGKKHILVLSELRAEDAGEVRFQAGPAQSLALLEVEALPLQMCRHPPREKTVLVGRRAVLEVTVSRSGGHVCWLREGAELCPGDKYEMRSHGPTHSLVIHDVRPEDQGTYCCQAGQDSTHTRLLVEGN", "length": 1896, "header": "sp|O75147-3|OBSL1_HUMAN Isoform 3 of Obscurin-like protein 1 OS=Homo sapiens OX=9606 GN=OBSL1 PE=1 SV=4 CANONICAL=O75147-3" }, "isoforms": [ { "isoform_ac": "O75147-1", "url": "", "sequence": { "sequence": "MKASSGDQGSPPCFLRFPRPVRVVSGAEAELKCVVLGEPPPVVVWEKGGQQLAASERLSFPADGAEHGLLLTAALPTDAGVYVCRARNAAGEAYAAAAVTVLEPPASDPELQPAERPLPSPGSGEGAPVFLTGPRSQWVLRGAEVVLTCRAGGLPEPTLYWEKDGMALDEVWDSSHFALQPGRAEDGPGASLALRILAARLPDSGVYVCHARNAHGHAQAGALLQVHQPPESPPADPDEAPAPVVEPLKCAPKTFWVNEGKHAKFRCYVMGKPEPEIEWHWEGRPLLPDRRRLMYRDRDGGFVLKVLYCQAKDRGLYVCAARNSAGQTLSAVQLHVKEPRLRFTRPLQDVEGREHGIAVLECKVPNSRIPTAWFREDQRLLPCRKYEQIEEGTVRRLIIHRLKADDDGIYLCEMRGRVRTVANVTVKGPILKRLPRKLDVLEGENAVLLVETLEAGVEGRWSRDGEELPVICQSSSGHMHALVLPGVTREDAGEVTFSLGNSRTTTLLRVKCVKHSPPGPPILAEMFKGHKNTVLLTWKPPEPAPETPFIYRLERQEVGSEDWIQCFSIEKAGAVEVPGDCVPSEGDYRFRICTVSGHGRSPHVVFHGSAHLVPTARLVAGLEDVQVYDGEDAVFSLDLSTIIQGTWFLNGEELKSNEPEGQVEPGALRYRIEQKGLQHRLILHAVKHQDSGALVGFSCPGVQDSAALTIQESPVHILSPQDRVSLTFTTSERVVLTCELSRVDFPATWYKDGQKVEESELLVVKMDGRKHRLILPEAKVQDSGEFECRTEGVSAFFGVTVQDPPVHIVDPREHVFVHAITSECVMLACEVDREDAPVRWYKDGQEVEESDFVVLENEGPHRRLVLPATQPSDGGEFQCVAGDECAYFTVTITDVSSWIVYPSGKVYVAAVRLERVVLTCELCRPWAEVRWTKDGEEVVESPALLLQKEDTVRRLVLPAVQLEDSGEYLCEIDDESASFTVTVTEPPVRIIYPRDEVTLIAVTLECVVLMCELSREDAPVRWYKDGLEVEESEALVLERDGPRCRLVLPAAQPEDGGEFVCDAGDDSAFFTVTVTEPPVQFLALETTPSPLCVAPGEPVVLSCELSRAGAPVVWSHNGRPVQEGEGLELHAEGPRRVLCIQAAGPAHAGLYTCQSGAAPGAPSLSFTVQVAEPPVRVVAPEAAQTRVRSTPGGDLELVVHLSGPGGPVRWYKDGERLASQGRVQLEQAGARQVLRVQGARSGDAGEYLCDAPQDSRIFLVSVEEPLLVKLVSELTPLTVHEGDDATFRCEVSPPDADVTWLRNGAVVTPGPQRQSCCSYGGCRMCGQRKARTCVSKWRQAEWVQRGPCAGCEVGSPCPTTLACPWPRMGTSTASSSMVSYWPTRAPTAARATTIAPWPGSA", "length": 1401, "header": "sp|O75147-1|OBSL1_HUMAN Isoform 1 of Obscurin-like protein 1 OS=Homo sapiens OX=9606 GN=OBSL1 PE=1 SV=4 CANONICAL=O75147-3" }, "locus": {} }, { "isoform_ac": "O75147-2", "url": "", "sequence": { "sequence": "MKASSGDQGSPPCFLRFPRPVRVVSGAEAELKCVVLGEPPPVVVWEKGGQQLAASERLSFPADGAEHGLLLTAALPTDAGVYVCRARNAAGEAYAAAAVTVLEPPASDPELQPAERPLPSPGSGEGAPVFLTGPRSQWVLRGAEVVLTCRAGGLPEPTLYWEKDGMALDEVWDSSHFALQPGRAEDGPGASLALRILAARLPDSGVYVCHARNAHGHAQAGALLQVHQPPESPPADPDEAPAPVVEPLKCAPKTFWVNEGKHAKFRCYVMGKPEPEIEWHWEGRPLLPDRRRLMYRDRDGGFVLKVLYCQAKDRGLYVCAARNSAGQTLSAVQLHVKEPRLRFTRPLQDVEGREHGIAVLECKVPNSRIPTAWFREDQRLLPCRKYEQIEEGTVRRLIIHRLKADDDGIYLCEMRGRVRTVANVTVKGPILKRLPRKLDVLEGENAVLLVETLEAGVEGRWSRDGEELPVICQSSSGHMHALVLPGVTREDAGEVTFSLGNSRTTTLLRVKCVKHSPPGPPILAEMFKGHKNTVLLTWKPPEPAPETPFIYRLERQEVGSEDWIQCFSIEKAGAVEVPGDCVPSEGDYRFRICTVSGHGRSPHVVFHGSAHLVPTARLVAGLEDVQVYDGEDAVFSLDLSTIIQGTWFLNGEELKSNEPEGQVEPGALRYRIEQKGLQHRLILHAVKHQDSGALVGFSCPGVQDSAALTIQESPVHILSPQDRVSLTFTTSERVVLTCELSRVDFPATWYKDGQKVEESELLVVKMDGRKHRLILPEAKVQDSGEFECRTEGVSAFFGVTVQDPPVHIVDPREHVFVHAITSECVMLACEVDREDAPVRWYKDGQEVEESDFVVLENEGPHRRLVLPATQPSDGGEFQCVAGDECAYFTVTITDVSSWIVYPSGKVYVAAVRLERVVLTCELCRPWAEVRWTKDGEEVVESPALLLQKEDTVRRLVLPAVQLEDSGEYLCEIDDESASFTVTVTESYQSQDSSNNNPELCVLLKKPKTRRLWSRFPPWRRTAGTE", "length": 1025, "header": "sp|O75147-2|OBSL1_HUMAN Isoform 2 of Obscurin-like protein 1 OS=Homo sapiens OX=9606 GN=OBSL1 PE=1 SV=4 CANONICAL=O75147-3" }, "locus": { "chromosome": "2", "start_pos": 219571232, "end_pos": 219561887, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000373873.8", "url": "https://www.ensembl.org/id/ENST00000373873.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000362980.4", "url": "https://www.ensembl.org/id/ENSP00000362980.4" } ] } }, { "isoform_ac": "O75147-3", "url": "", "sequence": { "sequence": "MKASSGDQGSPPCFLRFPRPVRVVSGAEAELKCVVLGEPPPVVVWEKGGQQLAASERLSFPADGAEHGLLLTAALPTDAGVYVCRARNAAGEAYAAAAVTVLEPPASDPELQPAERPLPSPGSGEGAPVFLTGPRSQWVLRGAEVVLTCRAGGLPEPTLYWEKDGMALDEVWDSSHFALQPGRAEDGPGASLALRILAARLPDSGVYVCHARNAHGHAQAGALLQVHQPPESPPADPDEAPAPVVEPLKCAPKTFWVNEGKHAKFRCYVMGKPEPEIEWHWEGRPLLPDRRRLMYRDRDGGFVLKVLYCQAKDRGLYVCAARNSAGQTLSAVQLHVKEPRLRFTRPLQDVEGREHGIAVLECKVPNSRIPTAWFREDQRLLPCRKYEQIEEGTVRRLIIHRLKADDDGIYLCEMRGRVRTVANVTVKGPILKRLPRKLDVLEGENAVLLVETLEAGVEGRWSRDGEELPVICQSSSGHMHALVLPGVTREDAGEVTFSLGNSRTTTLLRVKCVKHSPPGPPILAEMFKGHKNTVLLTWKPPEPAPETPFIYRLERQEVGSEDWIQCFSIEKAGAVEVPGDCVPSEGDYRFRICTVSGHGRSPHVVFHGSAHLVPTARLVAGLEDVQVYDGEDAVFSLDLSTIIQGTWFLNGEELKSNEPEGQVEPGALRYRIEQKGLQHRLILHAVKHQDSGALVGFSCPGVQDSAALTIQESPVHILSPQDRVSLTFTTSERVVLTCELSRVDFPATWYKDGQKVEESELLVVKMDGRKHRLILPEAKVQDSGEFECRTEGVSAFFGVTVQDPPVHIVDPREHVFVHAITSECVMLACEVDREDAPVRWYKDGQEVEESDFVVLENEGPHRRLVLPATQPSDGGEFQCVAGDECAYFTVTITDVSSWIVYPSGKVYVAAVRLERVVLTCELCRPWAEVRWTKDGEEVVESPALLLQKEDTVRRLVLPAVQLEDSGEYLCEIDDESASFTVTVTEPPVRIIYPRDEVTLIAVTLECVVLMCELSREDAPVRWYKDGLEVEESEALVLERDGPRCRLVLPAAQPEDGGEFVCDAGDDSAFFTVTVTAPPERIVHPAARSLDLHFGAPGRVELRCEVAPAGSQVRWYKDGLEVEASDALQLGAEGPTRTLTLPHAQPEDAGEYVCETRHEAITFNVILAEPPVQFLALETTPSPLCVAPGEPVVLSCELSRAGAPVVWSHNGRPVQEGEGLELHAEGPRRVLCIQAAGPAHAGLYTCQSGAAPGAPSLSFTVQVAEPPVRVVAPEAAQTRVRSTPGGDLELVVHLSGPGGPVRWYKDGERLASQGRVQLEQAGARQVLRVQGARSGDAGEYLCDAPQDSRIFLVSVEEPLLVKLVSELTPLTVHEGDDATFRCEVSPPDADVTWLRNGAVVTPGPQVEMAQNGSSRILTLRGCQLGDAGTVTLRAGSTATSARLHVRETELLFLRRLQDVRAEEGQDVCLEVETGRVGAAGAVRWVRGGQPLPHDSRLSMAQDGHIHRLFIHGVILADQGTYGCESHHDRTLARLSVRPRQLRVLRPLEDVTISEGGSATFQLELSQEGVTGEWARGGVQLYPGPKCHIHSDGHRHRLVLNGLGLADSGCVSFTADSLRCAARLIVREVPVTIVRGPHDLEVTEGDTATFECELSQALADVTWEKDGNALTPSPRLRLQALGTRRLLQLRRCGPSDAGTYSCAVGTARAGPVRLTVRERTVAVLSELRSVSAREGDGATFECTVSEVETTGRWELGGRPLRPGARVRIRQEGKKHILVLSELRAEDAGEVRFQAGPAQSLALLEVEALPLQMCRHPPREKTVLVGRRAVLEVTVSRSGGHVCWLREGAELCPGDKYEMRSHGPTHSLVIHDVRPEDQGTYCCQAGQDSTHTRLLVEGN", "length": 1896, "header": "sp|O75147-3|OBSL1_HUMAN Isoform 3 of Obscurin-like protein 1 OS=Homo sapiens OX=9606 GN=OBSL1 PE=1 SV=4 CANONICAL=O75147-3" }, "locus": { "chromosome": "2", "start_pos": 219571232, "end_pos": 219550838, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000404537.6", "url": "https://www.ensembl.org/id/ENST00000404537.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000385636.1", "url": "https://www.ensembl.org/id/ENSP00000385636.1" } ] } }, { "isoform_ac": "O75147-4", "url": "", "sequence": { "sequence": "MKASSGDQGSPPCFLRFPRPVRVVSGAEAELKCVVLGEPPPVVVWEKGGQQLAASERLSFPADGAEHGLLLTAALPTDAGVYVCRARNAAGEAYAAAAVTVLEPPASDPELQPAERPLPSPGSGEGAPVFLTGPRSQWVLRGAEVVLTCRAGGLPEPTLYWEKDGMALDEVWDSSHFALQPGRAEDGPGASLALRILAARLPDSGVYVCHARNAHGHAQAGALLQVHQPPESPPADPDEAPAPVVEPLKCAPKTFWVNEGKHAKFRCYVMGKPEPEIEWHWEGRPLLPDRRRLMYRDRDGGFVLKVLYCQAKDRGLYVCAARNSAGQTLSAVQLHVKEPRLRFTRPLQDVEGREHGIAVLECKVPNSRIPTAWFREDQRLLPCRKYEQIEEGTVRRLIIHRLKADDDGIYLCEMRGRVRTVANVTVKGPILKRLPRKLDVLEGENAVLLVETLEAGVEGRWSRDGEELPVICQSSSGHMHALVLPGVTREDAGEVTFSLGNSRTTTLLRVKCVKHSPPGPPILAEMFKGHKNTVLLTWKPPEPAPETPFIYRLERQEVGSEDWIQCFSIEKAGAVEVPGDCVPSEGDYRFRICTVSGHGRSPHVVFHGSAHLVPTARLVAGLEDVQVYDGEDAVFSLDLSTIIQGTWFLNGEELKSNEPEGQVEPGALRYRIEQKGLQHRLILHAVKHQDSGALVGFSCPGVQDSAALTIQESPVHILSPQDRVSLTFTTSERVVLTCELSRVDFPATWYKDGQKVEESELLVVKMDGRKHRLILPEAKVQDSGEFECRTEGVSAFFGVTVQDPPVHIVDPREHVFVHAITSECVMLACEVDREDAPVRWYKDGQEVEESDFVVLENEGPHRRLVLPATQPSDGGEFQCVAGDECAYFTVTITDVSSWIVYPSGKVYVAAVRLERVVLTCELCRPWAEVRWTKDGEEVVESPALLLQKEDTVRRLVLPAVQLEDSGEYLCEIDDESASFTVTVTEPPVRIIYPRDEVTLIAVTLECVVLMCELSREDAPVRWYKDGLEVEESEALVLERDGPRCRLVLPAAQPEDGGEFVCDAGDDSAFFTVTVTAPPERIVHPAARSLDLHFGAPGRVELRCEVAPAGSQVRWYKDGLEVEASDALQLGAEGPTRTLTLPHAQPEDAGEYVCETRHEAITFNVILAEPPVQFLALETTPSPLCVAPGEPVVLSCELSRAGAPVVWSHNGRPVQEGEGLELHAEGPRRVLCIQAAGPAHAGLYTCQSGAAPGAPSLSFTVQVAEPPVRVVAPEAAQTRVRSTPGGDLELVVHLSGPGGPVRWYKDGERLASQGRVQLEQAGARQVLRVQGARSGDAGEYLCDAPQDSRIFLVSVEEPLLVKLVSELTPLTVHEGDDATFRCEVSPPDADVTWLRNGAVVTPGPQVEMAQNGSSRILTLRGCQLGDAGTVTLRAGSTATSARLHVRETELLFLRRLQDVRAEEGQDVCLEVETGRVGAAGAVRWVRGGQPLPHDSRLSMAQDGHIHRLFIHGVILADQGTYGCESHHDRTLARLSVRRECPVLS", "length": 1543, "header": "sp|O75147-4|OBSL1_HUMAN Isoform 4 of Obscurin-like protein 1 OS=Homo sapiens OX=9606 GN=OBSL1 PE=1 SV=4 CANONICAL=O75147-3" }, "locus": { "chromosome": "2", "start_pos": 219571232, "end_pos": 219556000, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000603926.5", "url": "https://www.ensembl.org/id/ENST00000603926.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000474519.1", "url": "https://www.ensembl.org/id/ENSP00000474519.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1430, "start_aa": "Thr", "end_pos": 1430, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1430", "evidence": [ { "id": "O75147", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75147" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1645, "start_aa": "Thr", "end_pos": 1645, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1645", "evidence": [ { "id": "O75147", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75147" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O75147", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75147" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 737, "start_aa": "Thr", "end_pos": 737, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr737", "evidence": [ { "id": "O75147", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75147" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O75147", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75147" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 896, "start_aa": "Ser", "end_pos": 896, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser896", "evidence": [ { "id": "O75147", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75147" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O75147", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75147" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 897, "start_aa": "Ser", "end_pos": 897, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser897", "evidence": [ { "id": "O75147", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75147" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "O75147", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75147" } ] } ], "phosphorylation": [ { "start_pos": 10, "end_pos": 10, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75147", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75147" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "phospho.ELM", "id": "O75147", "url": "http://phospho.elm.eu.org/byAccession/O75147.html" } ], "site_lbl": "Ser10" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification of the von Hippel-lindau tumor-suppressor protein as part of an active E3 ubiquitin ligase complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Iwai K, Yamanaka K, Kamura T, Minato N, Conaway RC, Conaway JW, Klausner RD, Pause A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "10535940", "url": "https://glygen.org/publication/PubMed/10535940" } ] }, { "title": "Covalent modification of all members of human cullin family proteins by NEDD8.", "journal": "Oncogene", "date": "1999", "authors": "Hori T, Osaka F, Chiba T, Miyamoto C, Okabayashi K, Shimbara N, Kato S, Tanaka K", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "10597293", "url": "https://glygen.org/publication/PubMed/10597293" } ] }, { "title": "A complex of mammalian ufd1 and npl4 links the AAA-ATPase, p97, to ubiquitin and nuclear transport pathways.", "journal": "The EMBO journal", "date": "2000", "authors": "Meyer HH, Shorter JG, Seemann J, Pappin D, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "10811609", "url": "https://glygen.org/publication/PubMed/10811609" } ] }, { "title": "Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein.", "journal": "Nature cell biology", "date": "2000", "authors": "Ohh M, Park CW, Ivan M, Hoffman MA, Kim TY, Huang LE, Pavletich N, Chau V, Kaelin WG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "10878807", "url": "https://glygen.org/publication/PubMed/10878807" } ] }, { "title": "Activation of HIF1alpha ubiquitination by a reconstituted von Hippel-Lindau (VHL) tumor suppressor complex.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Kamura T, Sato S, Iwai K, Czyzyk-Krzeska M, Conaway RC, Conaway JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "10973499", "url": "https://glygen.org/publication/PubMed/10973499" } ] }, { "title": "The ubiquitin-proteasome pathway regulates survivin degradation in a cell cycle-dependent manner.", "journal": "Journal of cell science", "date": "2000", "authors": "Zhao J, Tenev T, Martins LM, Downward J, Lemoine NR", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "11069780", "url": "https://glygen.org/publication/PubMed/11069780" } ] }, { "title": "NUB1, a NEDD8-interacting protein, is induced by interferon and down-regulates the NEDD8 expression.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kito K, Yeh ET, Kamitani T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "11259415", "url": "https://glygen.org/publication/PubMed/11259415" } ] }, { "title": "Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation.", "journal": "Science (New York, N.Y.)", "date": "2001", "authors": "Jaakkola P, Mole DR, Tian YM, Wilson MI, Gielbert J, Gaskell SJ, von Kriegsheim A, Hebestreit HF, Mukherji M, Schofield CJ, Maxwell PH, Pugh CW, Ratcliffe PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "11292861", "url": "https://glygen.org/publication/PubMed/11292861" } ] }, { "title": "HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing.", "journal": "Science (New York, N.Y.)", "date": "2001", "authors": "Ivan M, Kondo K, Yang H, Kim W, Valiando J, Ohh M, Salic A, Asara JM, Lane WS, Kaelin WG Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "11292862", "url": "https://glygen.org/publication/PubMed/11292862" } ] }, { "title": "Hypoxia-inducible factor-1 alpha (HIF-1 alpha) escapes O(2)-driven proteasomal degradation irrespective of its subcellular localization: nucleus or cytoplasm.", "journal": "EMBO reports", "date": "2001", "authors": "Berra E, Roux D, Richard DE, Pouyssegur J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "11454738", "url": "https://glygen.org/publication/PubMed/11454738" } ] }, { "title": "Targeting of NEDD8 and its conjugates for proteasomal degradation by NUB1.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kamitani T, Kito K, Fukuda-Kamitani T, Yeh ET", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "11585840", "url": "https://glygen.org/publication/PubMed/11585840" } ] }, { "title": "Mobilization of processed, membrane-tethered SPT23 transcription factor by CDC48(UFD1/NPL4), a ubiquitin-selective chaperone.", "journal": "Cell", "date": "2001", "authors": "Rape M, Hoppe T, Gorr I, Kalocay M, Richly H, Jentsch S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "11733065", "url": "https://glygen.org/publication/PubMed/11733065" } ] }, { "title": "Structure of the Cul1-Rbx1-Skp1-F boxSkp2 SCF ubiquitin ligase complex.", "journal": "Nature", "date": "2002", "authors": "Zheng N, Schulman BA, Song L, Miller JJ, Jeffrey PD, Wang P, Chu C, Koepp DM, Elledge SJ, Pagano M, Conaway RC, Conaway JW, Harper JW, Pavletich NP", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "11961546", "url": "https://glygen.org/publication/PubMed/11961546" } ] }, { "title": "Oxygen-dependent ubiquitination and degradation of hypoxia-inducible factor requires nuclear-cytoplasmic trafficking of the von Hippel-Lindau tumor suppressor protein.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Groulx I, Lee S", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "12101228", "url": "https://glygen.org/publication/PubMed/12101228" } ] }, { "title": "Analysis of the adenovirus E1B-55K-anchored proteome reveals its link to ubiquitination machinery.", "journal": "Journal of virology", "date": "2002", "authors": "Harada JN, Shevchenko A, Shevchenko A, Pallas DC, Berk AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "12186903", "url": "https://glygen.org/publication/PubMed/12186903" } ] }, { "title": "NEDD8 modification of CUL1 dissociates p120(CAND1), an inhibitor of CUL1-SKP1 binding and SCF ligases.", "journal": "Molecular cell", "date": "2002", "authors": "Liu J, Furukawa M, Matsumoto T, Xiong Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "12504025", "url": "https://glygen.org/publication/PubMed/12504025" } ] }, { "title": "CAND1 binds to unneddylated CUL1 and regulates the formation of SCF ubiquitin E3 ligase complex.", "journal": "Molecular cell", "date": "2002", "authors": "Zheng J, Yang X, Harrell JM, Ryzhikov S, Shim EH, Lykke-Andersen K, Wei N, Sun H, Kobayashi R, Zhang H", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "12504026", "url": "https://glygen.org/publication/PubMed/12504026" } ] }, { "title": "Parc: a cytoplasmic anchor for p53.", "journal": "Cell", "date": "2003", "authors": "Nikolaev AY, Li M, 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"MKASSGDQGSPPCFLRFPRPVRVVSGAEAELKCVVLGEPPPTVLWEKGGQQLVASERLSFPEDGAEHGLLLSGALPTDAGVYVCRARNAAGEAYAAAAVTVLEPPAPEPEPQSSECPPPPPGTGEGAPVFLTGPQSQWVLRGAEVVLTCQVGGLPEPKLYWEKDGMALDEVWDSSHYTLEPDRGASDGGASLTLRILAARLPDSGVYVCHARNAHGHAQAGALLQVHQPHENPPQDPDEPPVRVIEPLKCAPKTFWVNEGKHAKFRCYVMGKPEPEIEWHLEGRPLLPDRRRLMYRDRDGGFVLKVLYCQAKDRGLYVCAARNSAGQTLSAVQLHVKEPRLRFTRPLQDVEGREHGIVVLECKVPNSRIPTAWFREDQRLLPCRKYEQIEEGTVRRLVIHRLKADDDGVYLCEMRGRVRTVANVTVKGPILKRLPRKLDVLEGENAVLLVETQEAGVQGCWSRDGEELPATCQSSCGHMHALVLPGVTREDAGEVTFSLGNSRTTTLLRVKCVKHSPPGPPVLVEMFKGQKNTVLLTWKPPEPPPETSFIYRLERQEVGSEDWIQCFSIEKAGAVEVPGDCVPTEGDYRFRICTVSEHGRSPHVVFNGSAHLVPTARLVSGLEDVQVYDGEDAVFSLDLSTIIQGSWFLNGELLKNDEAEGQVEPGALRYRIEQKGLQHRLILQTVKHQDNGALVGFICPGVQDSAALSIQESPVHILSPQDKVLLTFTTSERVVLTCELSRVDFPATWYKDGQKVEESESLVVKMDGRKHRLILPEAQVRDSGEFECRTEGISAFFSVTVQDPPVHIVDPQEHVFVHAITSESVMLTCEVDREDAAVHWYKDGQEVEESAVIVLEKEGPRHRLVLPAAQPSDGGEFQCVVGDERAYFTVTITDVSSWIVYPNGKVYVAAVRLERVVLTCELCRPWAEVRWTKDGEEVLESPALLLEKEDTIRRLVLPSVQLEDSGEYLCEIHDESASFTITVTEPPVRIIYPQDEVTLHAVSLECVVLTCELSRVDAPVRWYKDGLEVEETEALVLQSDGPRRRLVLPAAQPEDGGEFVCDAGDDSAFFTVTVTAPPERIVHPVARSLDLQFGAPGHVELRCEVAPAGSQVRWYKDGLEVEVSDALQLGAEGPARTLTLPHAQPEDAGEYVCETRDEAVTFNVSLAELPVQFLAPEAVPNPLCVVPGEPVMLSCELSRASAHVSWSHNGNPVKQGEGLELRAEGPRRILCIQAADLAHTGVYTCQSGTAPGAPSLSFNVQVAEPPPVKLVSELTPLTVHEGDDATFQCEVSPPDAEVTWLRNGAIVTPGPQLEMVHSGSSRTLIIRGCQLKDAGTVTARAGATDTSARLHVRETELLFLRRLQDVRAEEGQDVYLEVETGRVGAPGAVRWLRGGEPLPLDSRLTTAQDGHVHRLSIHGVLLTDQGTYGCESHHDRTLARLSVRPRQLRELRPLEDVTVHEGGSATFQLELSQEGVTGEWAQGGVRLHPGPKCHIHSEGRTHCLVLSGLGLADSGCISFTADTLRCAARLTVREVPVTIVQGPQDLEVTEGDTATFECELSQTLADVIWEKDGQALSLSPRLRLQSLGTRRLLLLRRCSSSDAGTYCCAVGTARSGPARLTVREREVSVLGELRSLSAREGDSATFECTVSESETTGRWELGGRALRPGGRVRIRQEGKKHILVLSELRTEDTGEVCFQAGPAQSLARLEVEALPLQMCRRPPREKTVLVDRRAVLEVTVSRPGGHVCWMREGVELCPGSKYEMRSHGTTHSLVIHDVRPEDQGTYSCQAGQDSADTQLLVEGDD", "length": 1805 }, "evidence": [ { "id": "45926394", "url": "http://www.informatics.jax.org/homology/45926394", "database": "MGI" }, { "id": "O75147", "url": "https://omabrowser.org/oma/group/O75147/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 9, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" }, { "name": "M band", "id": "GO:0031430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031430", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" }, { "name": "3M complex", "id": "GO:1990393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990393", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" }, { "name": "cardiac myofibril assembly", "id": "GO:0055003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055003", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" }, { "name": "positive regulation of dendrite morphogenesis", "id": "GO:0050775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050775", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" }, { "name": "regulation of mitotic nuclear division", "id": "GO:0007088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007088", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" }, { "name": "protein localization to Golgi apparatus", "id": "GO:0034067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034067", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "cytoskeletal anchor activity", "id": "GO:0008093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008093", "evidence": [ { "database": "UniProtKB", "id": "O75147", "url": "https://www.uniprot.org/uniprot/O75147" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1410, "end_pos": 1412, "annotation": "n_glycosylation_sequon" }, { "start_pos": 423, "end_pos": 425, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 737, 896, 897, 1430, 1645 ], "snv_sites": [ 90, 368, 592, 638, 785, 887, 897, 974, 1056, 1065, 1085, 1255, 1376, 1389, 1397, 1430, 1527, 1550, 1556, 1645, 1885 ], "glycation_sites": [], "phosphorylation_sites": [ 10 ], "sequon_annotation_sites": [ { "start_pos": 1410, "end_pos": 1412 }, { "start_pos": 423, "end_pos": 425 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 5 } ], "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": 5 }, { "field": "total_sites", "count": 5 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 5 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 21 }, { "field": "total_sites", "count": 21 } ], "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": 8 }, { "field": "total_sites", "count": 8 } ], "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": 13 }, { "field": "total_sites", "count": 13 } ], "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": 126 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }