{ "uniprot_canonical_ac": "P04156-1", "uniprot_ac": "P04156", "uniprot_id": "PRIO_HUMAN", "mass": { "chemical_mass": 27661.0, "monoisotopic_mass": 27661.0 }, "refseq": { "ac": "NP_001258490", "name": "alternative prion protein isoform AltPrp", "summary": "The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490" }, "gene_names": [ { "name": "PRNP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04156", "id": "P04156" }, { "name": "ALTPRP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04156", "id": "P04156" }, { "name": "AltPrP; ASCR; CD230; CJD; GSS; KURU; p27-30; PRIP; PrP; PrP27-30; PrP33-35C; PrPc", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490", "id": "NP_001258490" }, { "name": "PRIP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04156", "id": "P04156" }, { "name": "PRNP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490", "id": "NP_001258490" }, { "name": "PRP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04156", "id": "P04156" } ], "protein_names": [ { "name": "Major prion protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04156" }, { "name": "ASCR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04156" }, { "name": "PrP27-30", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04156" }, { "name": "PrP33-35C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04156" }, { "name": "PrP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04156" }, { "name": "alternative prion protein isoform AltPrp", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490", "id": "NP_001258490" }, { "name": "prion-related protein; alternative prion protein; major prion protein; CD230 antigen", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490", "id": "NP_001258490" } ], "function": [ { "annotation": "Elevated E200K Somatic Mutation of the Prion Protein Gene (PRNP) in the Brain Tissues of Patients with Sporadic Creutzfeldt-Jakob Disease (CJD). Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001258490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490" }, { "database": "PubMed", "id": "37834279", "url": "https://glygen.org/publication/PubMed/37834279" } ] }, { "annotation": "Excess PrP[C] inhibits muscle cell differentiation via miRNA-enhanced liquid-liquid phase separation implicated in myopathy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001258490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490" }, { "database": "PubMed", "id": "38065962", "url": "https://glygen.org/publication/PubMed/38065962" } ] }, { "annotation": "Instability of the octarepeat region of the human prion protein gene", "evidence": [ { "database": "RefSeq", "id": "NP_001258490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490" }, { "database": "PubMed", "id": "22028931", "url": "https://glygen.org/publication/PubMed/22028931" } ] }, { "annotation": "Its primary physiological function is unclear. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May promote myelin homeostasis through acting as an agonist for ADGRG6 receptor. May play a role in iron uptake and iron homeostasis. Soluble oligomers are toxic to cultured neuroblastoma cells and induce apoptosis (in vitro) (By similarity). Association with GPC1 (via its heparan sulfate chains) targets PRNP to lipid rafts. Also provides Cu(2+) or Zn(2+) for the ascorbate-mediated GPC1 deaminase degradation of its heparan sulfate side chains (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156#function" }, { "database": "PubMed", "id": "19936054", "url": "https://glygen.org/publication/PubMed/19936054" }, { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprot/P04925#function" }, { "database": "PubMed", "id": "20564047", "url": "https://glygen.org/publication/PubMed/20564047" }, { "database": "PubMed", "id": "12732622", "url": "https://glygen.org/publication/PubMed/12732622" } ] }, { "annotation": "Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP).", "evidence": [ { "database": "RefSeq", "id": "NP_001258490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490" }, { "database": "PubMed", "id": "37689591", "url": "https://glygen.org/publication/PubMed/37689591" } ] }, { "annotation": "Results demonstrate an unexpected function for PRNP, which, in addition to plasma membrane-anchored PrP, also encodes a second polypeptide termed AltPrP.", "evidence": [ { "database": "RefSeq", "id": "NP_001258490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490" }, { "database": "PubMed", "id": "21478263", "url": "https://glygen.org/publication/PubMed/21478263" } ] }, { "annotation": "The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that tends to aggregate into rod-like structures. The encoded protein contains a highly unstable region of five tandem octapeptide repeats. This gene is found on chromosome 20, approximately 20 kbp upstream of a gene which encodes a biochemically and structurally similar protein to the one encoded by this gene. Mutations in the repeat region as well as elsewhere in this gene have been associated with Creutzfeldt-Jakob disease, fatal familial insomnia, Gerstmann-Straussler disease, Huntington disease-like 1, and kuru. An overlapping open reading frame has been found for this gene that encodes a smaller, structurally unrelated protein, AltPrp. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001258490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490" } ] } ], "disease": [ { "disease_id": "DOID:0050433", "recommended_name": { "id": "DOID:0050433", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050433", "name": "fatal familial insomnia", "description": "A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain." }, "synonyms": [ { "id": "MONDO:0010808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010808", "name": "fatal familial insomnia", "description": "Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances." }, { "id": "MONDO:0010808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010808", "name": "fatal familial insomnia", "description": "" }, { "id": "MONDO:0010808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010808", "name": "FFI", "description": "" }, { "id": "MONDO:0010808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010808", "name": "Insomnia familial fatal", "description": "" }, { "id": "MONDO:0010808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010808", "name": "Insomnia, fatal familial", "description": "" }, { "id": "MONDO:0010808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010808", "name": "familial fatal insomnia", "description": "" }, { "id": "MONDO:0010808", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010808", "name": "fatal familial INSOMNIA", "description": "" }, { "id": "MIM:600072", "resource": "MIM", "url": "https://www.omim.org/entry/600072", "name": "Fatal familial insomnia", "description": "Fatal familial insomnia" } ], "evidence": [ { "id": "600072", "database": "MIM", "url": "https://www.omim.org/entry/600072" } ] }, { "disease_id": "DOID:0090103", "recommended_name": { "id": "DOID:0090103", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090103", "name": "Huntington's disease-like 1", "description": "A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13." }, "synonyms": [ { "id": "DOID:0090103", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090103", "name": "HDL1", "description": "" }, { "id": "DOID:0090103", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090103", "name": "HLN1", "description": "" }, { "id": "DOID:0090103", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090103", "name": "Huntington disease-like 1", "description": "" }, { "id": "DOID:0090103", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090103", "name": "Huntington-like neurodegenerative disorder 1", "description": "" }, { "id": "DOID:0090103", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090103", "name": "autosomal dominant Huntington-like neurodegenerative disorder", "description": "" }, { "id": "DOID:0090103", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090103", "name": "early-onset prion disease with prominent psychiatric features", "description": "" }, { "id": "MONDO:0011299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011299", "name": "Huntington disease-like 1", "description": "Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene." }, { "id": "MONDO:0011299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011299", "name": "HDL1", "description": "" }, { "id": "MONDO:0011299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011299", "name": "HLN1", "description": "" }, { "id": "MONDO:0011299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011299", "name": "Huntington disease-like 1", "description": "" }, { "id": "MONDO:0011299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011299", "name": "Huntington disease-like type 1", "description": "" }, { "id": "MONDO:0011299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011299", "name": "Huntington-like neurodegenerative disorder 1", "description": "" }, { "id": "MONDO:0011299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011299", "name": "PRNP neurodegenerative disease with chorea", "description": "" }, { "id": "MONDO:0011299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011299", "name": "autosomal dominant Huntington-like neurodegenerative disorder", "description": "" }, { "id": "MONDO:0011299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011299", "name": "early-onset prion disease with prominent psychiatric features", "description": "" }, { "id": "MONDO:0011299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011299", "name": "neurodegenerative disease with chorea caused by mutation in PRNP", "description": "" }, { "id": "MONDO:0011299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011299", "name": "Huntington's disease-like 1", "description": "" }, { "id": "MONDO:0011299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011299", "name": "Huntington-like neurodegenerative disorder, autosomal dominant", "description": "" }, { "id": "MONDO:0011299", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011299", "name": "prion disease, early-onset, with prominent psychiatric features", "description": "" }, { "id": "MIM:603218", "resource": "MIM", "url": "https://www.omim.org/entry/603218", "name": "Huntington disease-like 1", "description": "Huntington disease-like 1" } ], "evidence": [ { "id": "603218", "database": "MIM", "url": "https://www.omim.org/entry/603218" } ] }, { "disease_id": "DOID:11949", "recommended_name": { "id": "DOID:11949", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11949", "name": "Creutzfeldt-Jakob disease", "description": "" }, "synonyms": [ { "id": "DOID:11949", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11949", "name": "CJD", "description": "" }, { "id": "DOID:11949", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11949", "name": "Creutzfeldt Jacob syndrome", "description": "" }, { "id": "DOID:11949", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11949", "name": "Creutzfeldt Jakob disease", "description": "" }, { "id": "DOID:11949", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11949", "name": "Creutzfeldt-Jacob disease", "description": "" }, { "id": "DOID:11949", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11949", "name": "Jakob-Creutzfeldt disease", "description": "" }, { "id": "DOID:11949", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11949", "name": "Subacute spongiform encephalopathy", "description": "" }, { "id": "DOID:11949", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11949", "name": "Transmissible virus dementia", "description": "" }, { "id": "MONDO:0007403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007403", "name": "inherited Creutzfeldt-Jakob disease", "description": "Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia." }, { "id": "MONDO:0007403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007403", "name": "Creutzfeldt-Jakob disease, variant, resistance to", "description": "" }, { "id": "MONDO:0007403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007403", "name": "hereditary Creutzfeldt Jacob disease", "description": "" }, { "id": "MONDO:0007403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007403", "name": "inherited CJD", "description": "" }, { "id": "MONDO:0007403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007403", "name": "CJD", "description": "" }, { "id": "MONDO:0007403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007403", "name": "Creutzfeldt-Jakob disease", "description": "" }, { "id": "MONDO:0007403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007403", "name": "Creutzfeldt-Jakob disease, Heidenhain variant", "description": "" }, { "id": "MONDO:0007403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007403", "name": "Creutzfeldt-Jakob disease, familial", "description": "" }, { "id": "MONDO:0007403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007403", "name": "Creutzfeldt-Jakob disease, sporadic", "description": "" }, { "id": "MONDO:0007403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007403", "name": "Creutzfeldt-Jakob disease, variant", "description": "" }, { "id": "MIM:123400", "resource": "MIM", "url": "https://www.omim.org/entry/123400", "name": "Creutzfeldt-Jakob disease", "description": "Creutzfeldt-Jakob disease" } ], "evidence": [ { "id": "123400", "database": "MIM", "url": "https://www.omim.org/entry/123400" } ] }, { "disease_id": "DOID:4249", "recommended_name": { "id": "DOID:4249", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4249", "name": "Gerstmann-Straussler-Scheinker syndrome", "description": "A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain." }, "synonyms": [ { "id": "DOID:4249", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4249", "name": "Gerstmann-Straussler-Scheinker disease", "description": "" }, { "id": "DOID:4249", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4249", "name": "PRION DEMENTIA", "description": "" }, { "id": "MONDO:0007656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007656", "name": "Gerstmann-Straussler-Scheinker syndrome", "description": "A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia." }, { "id": "MONDO:0007656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007656", "name": "Gerstmann-Straussler-Scheinker disease", "description": "" }, { "id": "MONDO:0007656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007656", "name": "prion dementia", "description": "" }, { "id": "MONDO:0007656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007656", "name": "subacute spongiform encephalopathy, Gerstmann-Straussler type", "description": "" }, { "id": "MONDO:0007656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007656", "name": "GSD", "description": "" }, { "id": "MONDO:0007656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007656", "name": "Gerstmann Straussler Scheinker syndrome", "description": "" }, { "id": "MONDO:0007656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007656", "name": "Gerstmann-Straussler disease", "description": "" }, { "id": "MONDO:0007656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007656", "name": "amyloidosis cerebral with spongiform encephalopathy", "description": "" }, { "id": "MONDO:0007656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007656", "name": "amyloidosis, cerebral, with spongiform encephalopathy", "description": "" }, { "id": "MONDO:0007656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007656", "name": "cerebellar ataxia, progressive dementia, and amyloid deposits in CNS", "description": "" }, { "id": "MONDO:0007656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007656", "name": "cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system", "description": "" }, { "id": "MONDO:0007656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007656", "name": "cerebral amyloid angiopathy, Prnp-related", "description": "" }, { "id": "MONDO:0007656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007656", "name": "encephalopathy subacute spongiform Gerstmann-Straussler type", "description": "" }, { "id": "MONDO:0007656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007656", "name": "encephalopathy, Subacute spongiform, Gerstmann-Straussler type", "description": "" }, { "id": "MIM:137440", "resource": "MIM", "url": "https://www.omim.org/entry/137440", "name": "Gerstmann-Straussler disease", "description": "Gerstmann-Straussler disease" } ], "evidence": [ { "id": "137440", "database": "MIM", "url": "https://www.omim.org/entry/137440" } ] }, { "disease_id": "MONDO:0009500", "recommended_name": { "id": "MONDO:0009500", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009500", "name": "kuru, susceptibility to", "description": "" }, "synonyms": [ { "id": "MONDO:0009500", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009500", "name": "kuru, susceptibility to", "description": "" }, { "id": "MONDO:0009500", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009500", "name": "susceptibility to kuru", "description": "" }, { "id": "MIM:245300", "resource": "MIM", "url": "https://www.omim.org/entry/245300", "name": "Kuru", "description": "Kuru" } ], "evidence": [ { "id": "245300", "database": "MIM", "url": "https://www.omim.org/entry/245300" } ] }, { "disease_id": "MONDO:0011703", "recommended_name": { "id": "MONDO:0011703", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011703", "name": "spongiform encephalopathy with neuropsychiatric features", "description": "" }, "synonyms": [ { "id": "MONDO:0011703", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011703", "name": "spongiform encephalopathy with neuropsychiatric features", "description": "" }, { "id": "MIM:606688", "resource": "MIM", "url": "https://www.omim.org/entry/606688", "name": "Spongiform encephalopathy with neuropsychiatric features", "description": "Spongiform encephalopathy with neuropsychiatric features" } ], "evidence": [ { "id": "606688", "database": "MIM", "url": "https://www.omim.org/entry/606688" } ] } ], "snv": [ { "evidence": [ { "id": "rs775144659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775144659" }, { "id": "rs775144659", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775144659" }, { "id": "rs775144659", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775144659" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 199, "end_pos": 199, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TET->NET); n-glyco-sequon-loss (NFT->NFN).", "chr_id": "20", "chr_pos": "4699816", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T199", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1292160648", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1292160648" }, { "id": "rs1292160648", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1292160648" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 173, "end_pos": 173, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQN->NQS).", "chr_id": "20", "chr_pos": "4699738", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N173", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs547950774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs547950774" }, { "id": "rs547950774", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs547950774" }, { "id": "rs547950774", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs547950774" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 181, "end_pos": 181, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->SIT).", "chr_id": "20", "chr_pos": "4699762", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "N181", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs74315411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs74315411" }, { "id": "rs74315411", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs74315411" }, { "id": "9266722", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9266722" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 183, "end_pos": 183, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->NIA).", "chr_id": "20", "chr_pos": "4699767", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T183", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171867", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171867" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171867", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171867" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "97.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171867", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171867" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "99.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171867", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171867" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171867", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171867" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171867", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171867" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "98.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171867", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171867" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171867", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171867" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171867", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171867" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "98.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171867", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171867" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "94.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171867", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171867" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171867", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171867" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "96.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171867", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171867" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P04156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04156" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P04156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04156" } ], "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": "P04156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04156" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P04156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04156" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P04156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04156" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P04156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04156" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P04156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04156" } ], "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": "P04156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04156" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P04156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04156" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P04156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04156" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P04156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04156" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "P04156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04156" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "common_name": "Human" } ], "gene": [ { "name": "PRNP", "url": "https://www.uniprot.org/uniprot/P04156", "locus": { "chromosome": "20", "start_pos": 4701590, "end_pos": 4686350, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000171867", "url": "https://www.ensembl.org/id/ENSG00000171867" } ] } } ], "crossref": [ { "id": "ENSG00000171867", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171867", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "CHEMBL4869", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4869", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "PRNP", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRNP", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "5621", "url": "https://www.ncbi.nlm.nih.gov/gene/5621", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2056", "url": "https://glyconnect.expasy.org/browser/proteins/2056", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "9449", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9449", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P04156", "url": "https://www.ebi.ac.uk/intact/interactors/id:P04156*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000817", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000817", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR022416", "url": "https://www.ebi.ac.uk/interpro/entry/IPR022416", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR025860", "url": "https://www.ebi.ac.uk/interpro/entry/IPR025860", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036924", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036924", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "123400", "url": "http://www.omim.org/entry/123400", "database": "MIM", "categories": [ "Other" ] }, { "id": "137440", "url": "http://www.omim.org/entry/137440", "database": "MIM", "categories": [ "Other" ] }, { "id": "176640", "url": "http://www.omim.org/entry/176640", "database": "MIM", "categories": [ "Other" ] }, { "id": "245300", "url": "http://www.omim.org/entry/245300", "database": "MIM", "categories": [ "Other" ] }, { "id": "600072", "url": "http://www.omim.org/entry/600072", "database": "MIM", "categories": [ "Other" ] }, { "id": "603218", "url": "http://www.omim.org/entry/603218", "database": "MIM", "categories": [ "Other" ] }, { "id": "606688", "url": "http://www.omim.org/entry/606688", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_F7VJQ1", "url": "https://www.nextprot.org/entry/NX_F7VJQ1", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "NX_P04156", "url": "https://www.nextprot.org/entry/NX_P04156", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P04156", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04156", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "QMCTTQY", "url": "https://omabrowser.org/oma/group/QMCTTQY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5265139at2759", "url": "http://www.orthodb.org/?query=5265139at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15506", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15506", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15506:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15506:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1E1G", "url": "https://www.rcsb.org/structure/1E1G", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1E1J", "url": "https://www.rcsb.org/structure/1E1J", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1E1P", "url": "https://www.rcsb.org/structure/1E1P", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1E1S", "url": "https://www.rcsb.org/structure/1E1S", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1E1U", "url": "https://www.rcsb.org/structure/1E1U", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1E1W", "url": "https://www.rcsb.org/structure/1E1W", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1FKC", "url": "https://www.rcsb.org/structure/1FKC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1FO7", "url": "https://www.rcsb.org/structure/1FO7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1H0L", "url": "https://www.rcsb.org/structure/1H0L", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1HJM", "url": "https://www.rcsb.org/structure/1HJM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1HJN", "url": "https://www.rcsb.org/structure/1HJN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1I4M", "url": "https://www.rcsb.org/structure/1I4M", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1OEH", "url": "https://www.rcsb.org/structure/1OEH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1OEI", "url": "https://www.rcsb.org/structure/1OEI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1QLX", "url": "https://www.rcsb.org/structure/1QLX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1QLZ", "url": "https://www.rcsb.org/structure/1QLZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1QM0", "url": "https://www.rcsb.org/structure/1QM0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1QM1", "url": "https://www.rcsb.org/structure/1QM1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1QM2", "url": "https://www.rcsb.org/structure/1QM2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1QM3", "url": "https://www.rcsb.org/structure/1QM3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2IV4", "url": "https://www.rcsb.org/structure/2IV4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2IV5", "url": "https://www.rcsb.org/structure/2IV5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2IV6", "url": "https://www.rcsb.org/structure/2IV6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2K1D", "url": "https://www.rcsb.org/structure/2K1D", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2KUN", "url": "https://www.rcsb.org/structure/2KUN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2LBG", "url": "https://www.rcsb.org/structure/2LBG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2LEJ", "url": "https://www.rcsb.org/structure/2LEJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2LFT", "url": "https://www.rcsb.org/structure/2LFT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2LSB", "url": "https://www.rcsb.org/structure/2LSB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2LV1", "url": "https://www.rcsb.org/structure/2LV1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2M8T", "url": "https://www.rcsb.org/structure/2M8T", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2OL9", "url": "https://www.rcsb.org/structure/2OL9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2W9E", "url": "https://www.rcsb.org/structure/2W9E", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HAF", "url": "https://www.rcsb.org/structure/3HAF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HAK", "url": "https://www.rcsb.org/structure/3HAK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HEQ", "url": "https://www.rcsb.org/structure/3HEQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HER", "url": "https://www.rcsb.org/structure/3HER", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HES", "url": "https://www.rcsb.org/structure/3HES", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HJ5", "url": "https://www.rcsb.org/structure/3HJ5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3HJX", "url": "https://www.rcsb.org/structure/3HJX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3MD4", "url": "https://www.rcsb.org/structure/3MD4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3MD5", "url": "https://www.rcsb.org/structure/3MD5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3NHC", "url": "https://www.rcsb.org/structure/3NHC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3NHD", "url": "https://www.rcsb.org/structure/3NHD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3NVF", "url": "https://www.rcsb.org/structure/3NVF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4DGI", "url": "https://www.rcsb.org/structure/4DGI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4E1H", "url": "https://www.rcsb.org/structure/4E1H", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4E1I", "url": "https://www.rcsb.org/structure/4E1I", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4KML", "url": "https://www.rcsb.org/structure/4KML", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4N9O", "url": "https://www.rcsb.org/structure/4N9O", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5L6R", "url": "https://www.rcsb.org/structure/5L6R", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5YJ4", "url": "https://www.rcsb.org/structure/5YJ4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5YJ5", "url": "https://www.rcsb.org/structure/5YJ5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6DU9", "url": "https://www.rcsb.org/structure/6DU9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6LNI", "url": "https://www.rcsb.org/structure/6LNI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6PQ5", "url": "https://www.rcsb.org/structure/6PQ5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6PQA", "url": "https://www.rcsb.org/structure/6PQA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6SUZ", "url": "https://www.rcsb.org/structure/6SUZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6SV2", "url": "https://www.rcsb.org/structure/6SV2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6UUR", "url": "https://www.rcsb.org/structure/6UUR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7DWV", "url": "https://www.rcsb.org/structure/7DWV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7FHQ", "url": "https://www.rcsb.org/structure/7FHQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7RL4", "url": "https://www.rcsb.org/structure/7RL4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7RVC", "url": "https://www.rcsb.org/structure/7RVC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7RVE", "url": "https://www.rcsb.org/structure/7RVE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7RVJ", "url": "https://www.rcsb.org/structure/7RVJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7RVK", "url": "https://www.rcsb.org/structure/7RVK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7RVL", "url": "https://www.rcsb.org/structure/7RVL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7UMQ", "url": "https://www.rcsb.org/structure/7UMQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7UN5", "url": "https://www.rcsb.org/structure/7UN5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00377", "url": "http://pfam.xfam.org/family/PF00377", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF11587", "url": "http://pfam.xfam.org/family/PF11587", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "F7VJQ1", "url": "https://pharos.nih.gov/targets/F7VJQ1", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "P04156", "url": "https://pharos.nih.gov/targets/P04156", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000053314", "url": "https://proconsortium.org/app/entry/PR:000053314", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053315", "url": "https://proconsortium.org/app/entry/PR:000053315", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053316", "url": "https://proconsortium.org/app/entry/PR:000053316", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001258490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P04156", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A2A2V1", "url": "https://www.uniprot.org/uniprot/A2A2V1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2A2V1-1", "url": "https://www.uniprot.org/uniprot/A2A2V1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F7VJQ1", "url": "https://www.uniprot.org/uniprot/F7VJQ1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F7VJQ1-1", "url": "https://www.uniprot.org/uniprot/F7VJQ1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04156-1", "url": "https://www.uniprot.org/uniprot/P04156-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6RKS3", "url": "https://www.uniprot.org/uniprot/X6RKS3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X6RKS3-1", "url": "https://www.uniprot.org/uniprot/X6RKS3-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQVYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPVILLISFLIFLIVG", "length": 253, "header": "sp|P04156-1|PRIO_HUMAN Isoform 1 of Major prion protein OS=Homo sapiens OX=9606 GN=PRNP PE=1 SV=1 CANONICAL=P04156-1" }, "isoforms": [ { "isoform_ac": "A2A2V1-1", "url": "", "sequence": { "sequence": "MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQVYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPVILLISFLIF", "length": 249, "header": "tr|A2A2V1-1|A2A2V1_HUMAN Computationally mapped isoform of Major prion protein OS=Homo sapiens OX=9606 GN=PRNP PE=1 SV=1 CANONICAL=P04156-1" }, "locus": { "chromosome": "20", "start_pos": 4699979, "end_pos": 4699221, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000424424", "url": "https://www.ensembl.org/id/ENST00000424424" }, { "database": "Ensembl Peptide", "id": "ENSP00000411599", "url": "https://www.ensembl.org/id/ENSP00000411599" } ] } }, { "isoform_ac": "F7VJQ1-1", "url": "", "sequence": { "sequence": "MEHWGQPIPGAGQPWRQPLPTSGRWWLGAASWWWLGAASWWWLGAAPWWWLGTASWWWLGSRRWHPQSVEQAE", "length": 73, "header": "sp|F7VJQ1-1|APRIO_HUMAN Computationally mapped isoform of Alternative prion protein OS=Homo sapiens OX=9606 GN=PRNP PE=1 SV=1 CANONICAL=P04156-1" }, "locus": {} }, { "isoform_ac": "P04156-1", "url": "", "sequence": { "sequence": "MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQVYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQYERESQAYYQRGSSMVLFSSPPVILLISFLIFLIVG", "length": 253, "header": "sp|P04156-1|PRIO_HUMAN Isoform 1 of Major prion protein OS=Homo sapiens OX=9606 GN=PRNP PE=1 SV=1 CANONICAL=P04156-1" }, "locus": { "chromosome": "20", "start_pos": 4699979, "end_pos": 4699221, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000379440.9", "url": "https://www.ensembl.org/id/ENST00000379440.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000368752.4", "url": "https://www.ensembl.org/id/ENSP00000368752.4" } ] } }, { "isoform_ac": "X6RKS3-1", "url": "", "sequence": { "sequence": "MANLGCWMLVLFVATWSDLGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWGQGGGTHSQWNKPSKPKTNMKHMAGAAAAGAVVGGLGGYMLGSAMSRPIIHFGSDYEDRYYRENMHRYPNQVYYRPMDEYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCITQ", "length": 217, "header": "tr|X6RKS3-1|X6RKS3_HUMAN Computationally mapped isoform of Major prion protein OS=Homo sapiens OX=9606 GN=PRNP PE=1 SV=1 CANONICAL=P04156-1" }, "locus": { "chromosome": "20", "start_pos": 4699979, "end_pos": 4699221, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457586", "url": "https://www.ensembl.org/id/ENST00000457586" }, { "database": "Ensembl Peptide", "id": "ENSP00000415284", "url": "https://www.ensembl.org/id/ENSP00000415284" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 181, "start_aa": "Asn", "end_pos": 181, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn181", "evidence": [ { "id": "P04156", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04156#ptm_processing" }, { "id": "12214108", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/12214108" }, { "id": "30935958", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/30935958" }, { "id": "30935958", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30935958" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "QHTVTTTTKGENFTETDVK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 186, "start_aa": "Gln", "end_pos": 204, "end_aa": "Lys", "evidence": [ { "id": "P04156", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "TT", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 192, "start_aa": "Thr", "end_pos": 193, "end_aa": "Thr", "evidence": [ { "id": "P04156", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G10256JP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 197, "start_aa": "Asn", "end_pos": 197, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn197", "evidence": [ { "id": "2056", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2056" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G25987BV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 197, "start_aa": "Asn", "end_pos": 197, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn197", "evidence": [ { "id": "P04156", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G46687AB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 197, "start_aa": "Asn", "end_pos": 197, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn197", "evidence": [ { "id": "2056", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2056" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G49874UX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 197, "start_aa": "Asn", "end_pos": 197, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn197", "evidence": [ { "id": "2056", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2056" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G59937CP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 197, "start_aa": "Asn", "end_pos": 197, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn197", "evidence": [ { "id": "P04156", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G88725PI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 197, "start_aa": "Asn", "end_pos": 197, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn197", "evidence": [ { "id": "P04156", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 197, "start_aa": "Asn", "end_pos": 197, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn197", "evidence": [ { "id": "P04156", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04156#ptm_processing" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "30935958", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/30935958" }, { "id": "30935958", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30935958" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "GQPHGGGWGQGGGTHSQW", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 82, "start_aa": "Gly", "end_pos": 99, "end_aa": "Trp", "evidence": [ { "id": "P04156", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 95, "start_aa": "Thr", "end_pos": 95, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr95", "evidence": [ { "id": "P04156", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P04156", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04156" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "P04156", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Expression of wild-type and V210I mutant prion protein in human neuroblastoma cells.", "journal": "Neuroscience letters", "date": "1999", "authors": "Vetrugno V, Malchow M, Liu Q, Marziali G, Battistini A, Pocchiari M", "evidence": [ { "database": "Entrez", "id": "5621", "url": "https://www.ncbi.nlm.nih.gov/gene/5621" } ], "reference": [ { "type": "PubMed", "id": "10454141", "url": "https://glygen.org/publication/PubMed/10454141" } ] }, { "title": "Novel PRNP sequence variant associated with familial encephalopathy.", "journal": "American journal of medical genetics", "date": "1999", "authors": "Cervenakova L, Buetefisch C, Lee HS, Taller I, Stone G, Gibbs CJ Jr, Brown P, Hallett M, Goldfarb LG", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "10581485", "url": "https://glygen.org/publication/PubMed/10581485" } ] }, { "title": "NMR solution structure of the human prion protein.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2000", "authors": "Zahn R, Liu A, L\u00fchrs T, Riek R, von Schroetter C, L\u00f3pez Garc\u00eda F, Billeter M, Calzolai L, Wider G, W\u00fcthrich K", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "10618385", "url": "https://glygen.org/publication/PubMed/10618385" } ] }, { "title": "High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.", "journal": "American journal of human genetics", "date": "2000", "authors": "Finckh U, Muller-Thomsen T, Mann U, Eggers C, Marksteiner J, Meins W, Binetti G, Alberici A, Hock C, Nitsch RM, Gal A", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "10631141", "url": "https://glygen.org/publication/PubMed/10631141" } ] }, { "title": "Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.", "journal": "Human mutation", "date": "2000", "authors": "Peoc'h K, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Laupretre N, Laplanche JL", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "10790216", "url": "https://glygen.org/publication/PubMed/10790216" } ] }, { "title": "NMR structures of three single-residue variants of the human prion protein.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2000", "authors": "Calzolai L, Lysek D A, Guntert P, von Schroetter C, Riek R, Zahn R, W\u00fcthrich K", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "10900000", "url": "https://glygen.org/publication/PubMed/10900000" } ] }, { "title": "Solution structure of the E200K variant of human prion protein. Implications for the mechanism of pathogenesis in familial prion diseases.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Zhang Y, Swietnicki W, Zagorski M G, Surewicz W K, S\u00f6nnichsen F D", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "10954699", "url": "https://glygen.org/publication/PubMed/10954699" } ] }, { "title": "The chaperone protein BiP binds to a mutant prion protein and mediates its degradation by the proteasome.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Jin T, Gu Y, Zanusso G, Sy M, Kumar A, Cohen M, Gambetti P, Singh N", "evidence": [ { "database": "Entrez", "id": "5621", "url": "https://www.ncbi.nlm.nih.gov/gene/5621" } ], "reference": [ { "type": "PubMed", "id": "10970892", "url": "https://glygen.org/publication/PubMed/10970892" } ] }, { "title": "Molecular genetics of human prion diseases in Germany.", "journal": "Hum. Genet.", "date": "1999", "authors": "Windl O, Giese A, Schulz-Schaeffer W, Zerr I, Skworc K, Arendt S, Oberdieck C, Bodemer M, Poser S, Kretzschmar H A", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "10987652", "url": "https://glygen.org/publication/PubMed/10987652" } ] }, { "title": "Crystal structure of the human prion protein reveals a mechanism for oligomerization.", "journal": "Nat. Struct. Biol.", "date": "2001", "authors": "Knaus K J, Morillas M, Swietnicki W, Malone M, Surewicz W K, Yee V C", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "11524679", "url": "https://glygen.org/publication/PubMed/11524679" } ] }, { "title": "A new PRNP mutation (G131V) associated with Gerstmann-Straussler-Scheinker disease.", "journal": "Archives of neurology", "date": "2001", "authors": "Panegyres PK, Toufexis K, Kakulas BA, Cernevakova L, Brown P, Ghetti B, Piccardo P, Dlouhy SR", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "11709001", "url": "https://glygen.org/publication/PubMed/11709001" } ] }, { "title": "Molecular features of the copper binding sites in the octarepeat domain of the prion protein.", "journal": "Biochemistry", "date": "2002", "authors": "Burns CS, Aronoff-Spencer E, Dunham CM, Lario P, Avdievich NI, Antholine WE, Olmstead MM, Vrielink A, Gerfen GJ, Peisach J, Scott WG, Millhauser GL", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "11900542", "url": "https://glygen.org/publication/PubMed/11900542" } ] }, { "title": "The Thr183Ala Mutation, Not the Loss of the First Glycosylation Site, Alters the Physical Properties of the Prion Protein.", "journal": "Journal of Alzheimer's disease : JAD", "date": "2000", "authors": "Capellari S, Zaidi SI, Long AC, Kwon EE, Petersen RB", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156#ptm_processing" }, { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "12214108", "url": "https://glygen.org/publication/PubMed/12214108" } ] }, { "title": "Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics.", "journal": "Science (New York, N.Y.)", "date": "2003", "authors": "Mead S, Stumpf MP, Whitfield J, Beck JA, Poulter M, Campbell T, Uphill JB, Goldstein D, Alpers M, Fisher EM, Collinge J", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "12690204", "url": "https://glygen.org/publication/PubMed/12690204" } ] }, { "title": "Prion, amyloid beta-derived Cu(II) ions, or free Zn(II) ions support S-nitroso-dependent autocleavage of glypican-1 heparan sulfate.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Mani K, Cheng F, Havsmark B, Jonsson M, Belting M, Fransson LA", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "12732622", "url": "https://glygen.org/publication/PubMed/12732622" } ] }, { "title": "Polysialyltransferases: major players in polysialic acid synthesis on the neural cell adhesion molecule.", "journal": "Biochimie", "date": "2003", "authors": "Angata K, Fukuda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "12765789", "url": "https://glygen.org/publication/PubMed/12765789" } ] }, { "title": "Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.", "journal": "Neurology", "date": "1992", "authors": "Medori R, Montagna P, Tritschler HJ, LeBlanc A, Cortelli P, Tinuper P, Lugaresi E, Gambetti P", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "1347910", "url": "https://glygen.org/publication/PubMed/1347910" } ] }, { "title": "Deletion in the prion protein gene in a demented patient.", "journal": "Hum. Mol. Genet.", "date": "1992", "authors": "Diedrich J F, Knopman D S, List J F, Olson K, Frey W H, Emory C R, Sung J H, Haase A T", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "1363802", "url": "https://glygen.org/publication/PubMed/1363802" } ] }, { "title": "Mutant prion proteins in Gerstmann-Straussler-Scheinker disease with neurofibrillary tangles.", "journal": "Nature genetics", "date": "1992", "authors": "Hsiao K, Dlouhy SR, Farlow MR, Cass C, Da Costa M, Conneally PM, Hodes ME, Ghetti B, Prusiner SB", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "1363810", "url": "https://glygen.org/publication/PubMed/1363810" } ] }, { "title": "Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.", "journal": "Science (New York, N.Y.)", "date": "1992", "authors": "Goldfarb LG, Petersen RB, Tabaton M, Brown P, LeBlanc AC, Montagna P, Cortelli P, Julien J, Vital C, Pendelbury WW, et al.", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "1439789", "url": "https://glygen.org/publication/PubMed/1439789" } ] }, { "title": "The octapeptide repeats in mammalian prion protein constitute a pH-dependent folding and aggregation site.", "journal": "J. Mol. Biol.", "date": "2003", "authors": "Zahn Ralph", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "14623188", "url": "https://glygen.org/publication/PubMed/14623188" } ] }, { "title": "Small glutamine-rich tetratricopeptide repeat-containing protein is composed of three structural units with distinct functions.", "journal": "Archives of biochemistry and biophysics", "date": "2005", "authors": "Liou ST, Wang C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "15708368", "url": "https://glygen.org/publication/PubMed/15708368" } ] }, { "title": "The octarepeat domain of the prion protein binds Cu(II) with three distinct coordination modes at pH 7.4.", "journal": "J. Am. Chem. Soc.", "date": "2005", "authors": "Chattopadhyay Madhuri, Walter Eric D, Newell Dustin J, Jackson Pilgrim J, Aronoff-Spencer Eliah, Peisach Jack, Gerfen Gary J, Bennett Brian, Antholine William E, Millhauser Glenn L", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "16144413", "url": "https://glygen.org/publication/PubMed/16144413" } ] }, { "title": "Genetic ablation of polysialic acid causes severe neurodevelopmental defects rescued by deletion of the neural cell adhesion molecule.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Weinhold B, Seidenfaden R, Rockle I, Muhlenhoff M, Schertzinger F, Conzelmann S, Marth JD, Gerardy-Schahn R, Hildebrandt H", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "16267048", "url": "https://glygen.org/publication/PubMed/16267048" } ] }, { "title": "New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.", "journal": "Lancet (London, England)", "date": "1991", "authors": "Goldfarb LG, Haltia M, Brown P, Nieto A, Kovanen J, McCombie WR, Trapp S, Gajdusek DC", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "1671440", "url": "https://glygen.org/publication/PubMed/1671440" } ] }, { "title": "Amyloid protein of Gerstmann-Straussler-Scheinker disease (Indiana kindred) is an 11 kd fragment of prion protein with an N-terminal glycine at codon 58.", "journal": "EMBO J.", "date": "1991", "authors": "Tagliavini F, Prelli F, Ghiso J, Bugiani O, Serban D, Prusiner S B, Farlow M R, Ghetti B, Frangione B", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "1672107", "url": "https://glygen.org/publication/PubMed/1672107" } ] }, { "title": "Human SGT interacts with Bag-6/Bat-3/Scythe and cells with reduced levels of either protein display persistence of few misaligned chromosomes and mitotic arrest.", "journal": "Experimental cell research", "date": "2006", "authors": "Winnefeld M, Grewenig A, Schnolzer M, Spring H, Knoch TA, Gan EC, Rommelaere J, Cziepluch C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "16777091", "url": "https://glygen.org/publication/PubMed/16777091" } ] }, { "title": "Genomic structure of the human prion protein gene.", "journal": "Am. J. Hum. Genet.", "date": "1991", "authors": "Puckett C, Concannon P, Casey C, Hood L", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "1678248", "url": "https://glygen.org/publication/PubMed/1678248" } ] }, { "title": "Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1991", "authors": "Goldfarb L G, Brown P, McCombie W R, Goldgaber D, Swergold G D, Wills P R, Cervenakova L, Baron H, Gibbs C J, Gajdusek D C", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "1683708", "url": "https://glygen.org/publication/PubMed/1683708" } ] }, { "title": "Identification of a targeting factor for posttranslational membrane protein insertion into the ER.", "journal": "Cell", "date": "2007", "authors": "Stefanovic S, Hegde RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "17382883", "url": "https://glygen.org/publication/PubMed/17382883" } ] }, { "title": "Atomic structures of amyloid cross-beta spines reveal varied steric zippers.", "journal": "Nature", "date": "2007", "authors": "Sawaya Michael R, Sambashivan Shilpa, Nelson Rebecca, Ivanova Magdalena I, Sievers Stuart A, Apostol Marcin I, Thompson Michael J, Balbirnie Melinda, Wiltzius Jed J W, McFarlane Heather T, Madsen Anders \u00d8, Riekel Christian, Eisenberg David", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "17468747", "url": "https://glygen.org/publication/PubMed/17468747" } ] }, { "title": "The prion protein is a combined zinc and copper binding protein: Zn2+ alters the distribution of Cu2+ coordination modes.", "journal": "J. Am. Chem. Soc.", "date": "2007", "authors": "Walter Eric D, Stevens Daniel J, Visconte Micah P, Millhauser Glenn L", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "18034490", "url": "https://glygen.org/publication/PubMed/18034490" } ] }, { "title": "Polysialic acid in the plasticity of the developing and adult vertebrate nervous system.", "journal": "Nature reviews. Neuroscience", "date": "2008", "authors": "Rutishauser U", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "18059411", "url": "https://glygen.org/publication/PubMed/18059411" } ] }, { "title": "Distinct targeting pathways for the membrane insertion of tail-anchored (TA) proteins.", "journal": "Journal of cell science", "date": "2008", "authors": "Favaloro V, Spasic M, Schwappach B, Dobberstein B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "18477612", "url": "https://glygen.org/publication/PubMed/18477612" } ] }, { "title": "missing tag=TI", "journal": "missing tag=JT", "date": "missing", "authors": "author information missing", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "18607724", "url": "https://glygen.org/publication/PubMed/18607724" } ] }, { "title": "Biosynthesis of prion protein nucleocytoplasmic isoforms by alternative initiation of translation.", "journal": "J. Biol. Chem.", "date": "2009", "authors": "Juanes Mar\u00eda E, Elvira Gema, Garc\u00eda-Grande Aranzazu, Calero Miguel, Gasset Mar\u00eda", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "19059915", "url": "https://glygen.org/publication/PubMed/19059915" } ] }, { "title": "Crystal structure of human prion protein bound to a therapeutic antibody.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2009", "authors": "Antonyuk S V, Trevitt C R, Strange R W, Jackson G S, Sangar D, Batchelor M, Cooper S, Fraser C, Jones S, Georgiou T, Khalili-Shirazi A, Clarke A R, Hasnain S S, Collinge J", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "19204296", "url": "https://glygen.org/publication/PubMed/19204296" } ] }, { "title": "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins.", "journal": "Nature biotechnology", "date": "2009", "authors": "Wollscheid B, Bausch-Fluck D, Henderson C, O'Brien R, Bibel M, Schiess R, Aebersold R, Watts JD", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156#ptm_processing" }, { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "19349973", "url": "https://glygen.org/publication/PubMed/19349973" } ] }, { "title": "Early onset prion disease from octarepeat expansion correlates with copper or zinc binding properties.", "journal": "PLoS Pathog.", "date": "2009", "authors": "Stevens Daniel J, Walter Eric D, Rodr\u00edguez Abel, Draper David, Davies Paul, Brown David R, Millhauser Glenn L", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "19381258", "url": "https://glygen.org/publication/PubMed/19381258" } ] }, { "title": "Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia.", "journal": "Lancet (London, England)", "date": "1990", "authors": "Goldfarb LG, Mitrova E, Brown P, Toh BK, Gajdusek DC", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "1975028", "url": "https://glygen.org/publication/PubMed/1975028" } ] }, { "title": "A novel protective prion protein variant that colocalizes with kuru exposure.", "journal": "The New England journal of medicine", "date": "2009", "authors": "Mead S, Whitfield J, Poulter M, Shah P, Uphill J, Campbell T, Al-Dujaily H, Hummerich H, Beck J, Mein CA, Verzilli C, Whittaker J, Alpers MP, Collinge J", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "19923577", "url": "https://glygen.org/publication/PubMed/19923577" } ] }, { "title": "Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.", "journal": "The EMBO journal", "date": "2010", "authors": "Lee S, Antony L, Hartmann R, Knaus KJ, Surewicz K, Surewicz WK, Yee VC", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "19927125", "url": "https://glygen.org/publication/PubMed/19927125" } ] }, { "title": "Glypican-1 mediates both prion protein lipid raft association and disease isoform formation.", "journal": "PLoS pathogens", "date": "2009-11", "authors": "Taylor David R, Whitehouse Isobel J, Hooper Nigel M", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "19936054", "url": "https://glygen.org/publication/PubMed/19936054" } ] }, { "title": "Prion fibrillization is mediated by a native structural element that comprises helices H2 and H3.", "journal": "J. Biol. Chem.", "date": "2010", "authors": "Adrover Miquel, Pauwels Kris, Prigent Stephanie, de Chiara Cesira, Xu Zhou, Chapuis C\u00e9line, Pastore Annalisa, Rezaei Human", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "20375014", "url": "https://glygen.org/publication/PubMed/20375014" } ] }, { "title": "Asna1/TRC40-mediated membrane insertion of tail-anchored proteins.", "journal": "Journal of cell science", "date": "2010", "authors": "Favaloro V, Vilardi F, Schlecht R, Mayer MP, Dobberstein B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "20375064", "url": "https://glygen.org/publication/PubMed/20375064" } ] }, { "title": "Copper (II) promotes the formation of soluble neurotoxic PrP oligomers in acidic environment.", "journal": "Journal of cellular biochemistry", "date": "2010-10-15", "authors": "Wu Di, Zhang Wentao, Luo Qingying, Luo Kan, Huang Liqin, Wang Wenxi, Huang Tao, Chen Rui, Lin Yi, Pang Daiwen, Xiao Gengfu", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "20564047", "url": "https://glygen.org/publication/PubMed/20564047" } ] }, { "title": "Prion protein expression and the M129V polymorphism of the PRNP gene in patients with colorectal cancer.", "journal": "Molecular carcinogenesis", "date": "2010", "authors": "Antonacopoulou AG, Palli M, Marousi S, Dimitrakopoulos FI, Kyriakopoulou U, Tsamandas AC, Scopa CD, Papavassiliou AG, Kalofonos HP", "evidence": [ { "database": "Entrez", "id": "5621", "url": "https://www.ncbi.nlm.nih.gov/gene/5621" } ], "reference": [ { "type": "PubMed", "id": "20564346", "url": "https://glygen.org/publication/PubMed/20564346" } ] }, { "title": "A ribosome-associating factor chaperones tail-anchored membrane proteins.", "journal": "Nature", "date": "2010", "authors": "Mariappan M, Li X, Stefanovic S, Sharma A, Mateja A, Keenan RJ, Hegde RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "20676083", "url": "https://glygen.org/publication/PubMed/20676083" } ] }, { "title": "Characterizing the novel protein p33MONOX.", "journal": "Mol. Cell. Biochem.", "date": "2011", "authors": "Mishra M, Inoue N, Heese K", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "21153684", "url": "https://glygen.org/publication/PubMed/21153684" } ] }, { "title": "WRB is the receptor for TRC40/Asna1-mediated insertion of tail-anchored proteins into the ER membrane.", "journal": "Journal of cell science", "date": "2011", "authors": "Vilardi F, Lorenz H, Dobberstein B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "21444755", "url": "https://glygen.org/publication/PubMed/21444755" } ] }, { "title": "A biochemical analysis of the constraints of tail-anchored protein biogenesis.", "journal": "The Biochemical journal", "date": "2011", "authors": "Leznicki P, Warwicker J, High S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "21466504", "url": "https://glygen.org/publication/PubMed/21466504" } ] }, { "title": "An overlapping reading frame in the PRNP gene encodes a novel polypeptide distinct from the prion protein.", "journal": "FASEB J.", "date": "2011", "authors": "Vanderperre B, Staskevicius AB, Tremblay G, McCoy M, O'Neill MA, Cashman NR, Roucou X", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" }, { "database": "RefSeq", "id": "NP_001258490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490" } ], "reference": [ { "type": "PubMed", "id": "21478263", "url": "https://glygen.org/publication/PubMed/21478263" } ] }, { "title": "A ubiquitin ligase-associated chaperone holdase maintains polypeptides in soluble states for proteasome degradation.", "journal": "Molecular cell", "date": "2011", "authors": "Wang Q, Liu Y, Soetandyo N, Baek K, Hegde R, Ye Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "21636303", "url": "https://glygen.org/publication/PubMed/21636303" } ] }, { "title": "Protein targeting and degradation are coupled for elimination of mislocalized proteins.", "journal": "Nature", "date": "2011", "authors": "Hessa T, Sharma A, Mariappan M, Eshleman HD, Gutierrez E, Hegde RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "21743475", "url": "https://glygen.org/publication/PubMed/21743475" } ] }, { "title": "Instability of the octarepeat region of the human prion protein gene.", "journal": "PloS one", "date": "2011", "authors": "Li B, Qing L, Yan J, Kong Q", "evidence": [ { "database": "RefSeq", "id": "NP_001258490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490" } ], "reference": [ { "type": "PubMed", "id": "22028931", "url": "https://glygen.org/publication/PubMed/22028931" } ] }, { "title": "Molecular machinery for insertion of tail-anchored membrane proteins into the endoplasmic reticulum membrane in mammalian cells.", "journal": "Molecular cell", "date": "2012", "authors": "Yamamoto Y, Sakisaka T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "23041287", "url": "https://glygen.org/publication/PubMed/23041287" } ] }, { "title": "SGTA antagonizes BAG6-mediated protein triage.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2012", "authors": "Leznicki P, High S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "23129660", "url": "https://glygen.org/publication/PubMed/23129660" } ] }, { "title": "Structures of the Sgt2/SGTA dimerization domain with the Get5/UBL4A UBL domain reveal an interaction that forms a conserved dynamic interface.", "journal": "Cell reports", "date": "2012", "authors": "Chartron JW, VanderVelde DG, Clemons WM Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "23142665", "url": "https://glygen.org/publication/PubMed/23142665" } ] }, { "title": "SGTA recognizes a noncanonical ubiquitin-like domain in the Bag6-Ubl4A-Trc35 complex to promote endoplasmic reticulum-associated degradation.", "journal": "Cell reports", "date": "2012", "authors": "Xu Y, Cai M, Yang Y, Huang L, Ye Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "23246001", "url": "https://glygen.org/publication/PubMed/23246001" } ] }, { "title": "The association of BAG6 with SGTA and tail-anchored proteins.", "journal": "PloS one", "date": "2013", "authors": "Leznicki P, Roebuck QP, Wunderley L, Clancy A, Krysztofinska EM, Isaacson RL, Warwicker J, Schwappach B, High S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "23533635", "url": "https://glygen.org/publication/PubMed/23533635" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "P04156", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "WRB and CAML are necessary and sufficient to mediate tail-anchored protein targeting to the ER membrane.", "journal": "PloS one", "date": "2014", "authors": "Vilardi F, Stephan M, Clancy A, Janshoff A, Schwappach B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "24392163", "url": "https://glygen.org/publication/PubMed/24392163" } ] }, { "title": "SGTA regulates the cytosolic quality control of hydrophobic substrates.", "journal": "Journal of cell science", "date": "2014", "authors": "Wunderley L, Leznicki P, Payapilly A, High S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "25179605", "url": "https://glygen.org/publication/PubMed/25179605" } ] }, { "title": "Solution structure of the SGTA dimerisation domain and investigation of its interactions with the ubiquitin-like domains of BAG6 and UBL4A.", "journal": "PloS one", "date": "2014", "authors": "Darby JF, Krysztofinska EM, Simpson PJ, Simon AC, Leznicki P, Sriskandarajah N, Bishop DS, Hale LR, Alfano C, Conte MR, Martinez-Lumbreras S, Thapaliya A, High S, Isaacson RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "25415308", "url": "https://glygen.org/publication/PubMed/25415308" } ] }, { "title": "Bag6 complex contains a minimal tail-anchor-targeting module and a mock BAG domain.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2015", "authors": "Mock JY, Chartron JW, Zaslaver M, Xu Y, Ye Y, Clemons WM Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "25535373", "url": "https://glygen.org/publication/PubMed/25535373" } ] }, { "title": "Linkage of a prion protein missense variant to Gerstmann-Straussler syndrome.", "journal": "Nature", "date": "1989", "authors": "Hsiao K, Baker HF, Crow TJ, Poulter M, Owen F, Terwilliger JD, Westaway D, Ott J, Prusiner SB", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "2564168", "url": "https://glygen.org/publication/PubMed/2564168" } ] }, { "title": "Structure of a BAG6 (Bcl-2-associated athanogene 6)-Ubl4a (ubiquitin-like protein 4a) complex reveals a novel binding interface that functions in tail-anchored protein biogenesis.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Kuwabara N, Minami R, Yokota N, Matsumoto H, Senda T, Kawahara H, Kato R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "25713138", "url": "https://glygen.org/publication/PubMed/25713138" } ] }, { "title": "A naturally occurring variant of the human prion protein completely prevents prion disease.", "journal": "Nature", "date": "2015", "authors": "Asante EA, Smidak M, Grimshaw A, Houghton R, Tomlinson A, Jeelani A, Jakubcova T, Hamdan S, Richard-Londt A, Linehan JM, Brandner S, Alpers M, Whitfield J, Mead S, Wadsworth JD, Collinge J", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "26061765", "url": "https://glygen.org/publication/PubMed/26061765" } ] }, { "title": "Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane.", "journal": "Journal of cell science", "date": "2016", "authors": "Pfaff J, Rivera Monroy J, Jamieson C, Rajanala K, Vilardi F, Schwappach B, Kehlenbach RH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "26675233", "url": "https://glygen.org/publication/PubMed/26675233" } ] }, { "title": "Structural and functional insights into the E3 ligase, RNF126.", "journal": "Scientific reports", "date": "2016", "authors": "Krysztofinska EM, Martinez-Lumbreras S, Thapaliya A, Evans NJ, High S, Isaacson RL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "27193484", "url": "https://glygen.org/publication/PubMed/27193484" } ] }, { "title": "Tail-anchored Protein Insertion in Mammals: FUNCTION AND RECIPROCAL INTERACTIONS OF THE TWO SUBUNITS OF THE TRC40 RECEPTOR.", "journal": "The Journal of biological chemistry", "date": "2016", "authors": "Colombo SF, Cardani S, Maroli A, Vitiello A, Soffientini P, Crespi A, Bram RF, Benfante R, Borgese N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "27226539", "url": "https://glygen.org/publication/PubMed/27226539" } ] }, { "title": "Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing.", "journal": "The EMBO journal", "date": "2016", "authors": "Vogl C, Panou I, Yamanbaeva G, Wichmann C, Mangosing SJ, Vilardi F, Indzhykulian AA, Pangrsic T, Santarelli R, Rodriguez-Ballesteros M, Weber T, Jung S, Cardenas E, Wu X, Wojcik SM, Kwan KY, Del Castillo I, Schwappach B, Strenzke N, Corey DP, Lin SY, Moser T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "27458190", "url": "https://glygen.org/publication/PubMed/27458190" } ] }, { "title": "Pro----leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Straussler syndrome.", "journal": "Biochemical and biophysical research communications", "date": "1989", "authors": "Doh-ura K, Tateishi J, Sasaki H, Kitamoto T, Sakaki Y", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "2783132", "url": "https://glygen.org/publication/PubMed/2783132" } ] }, { "title": "Binding properties of the neural cell adhesion molecule to different components of the extracellular matrix.", "journal": "Journal of neurochemistry", "date": "1989", "authors": "Probstmeier R, Kuhn K, Schachner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "2809592", "url": "https://glygen.org/publication/PubMed/2809592" } ] }, { "title": "Mechanistic basis for a molecular triage reaction.", "journal": "Science (New York, N.Y.)", "date": "2017", "authors": "Shao S, Rodrigo-Brenni MC, Kivlen MH, Hegde RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "28104892", "url": "https://glygen.org/publication/PubMed/28104892" } ] }, { "title": "Biosynthesis of prion protein nucleocytoplasmic isoforms by alternative initiation of translation.", "journal": "J. Biol. Chem.", "date": "2017", "authors": "Juanes Mar\u00eda E, Elvira Gema, Garc\u00eda-Grande Aranzazu, Calero Miguel, Gasset Mar\u00eda", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "29222195", "url": "https://glygen.org/publication/PubMed/29222195" } ] }, { "title": "The ER membrane protein complex is a transmembrane domain insertase.", "journal": "Science (New York, N.Y.)", "date": "2018", "authors": "Guna A, Volkmar N, Christianson JC, Hegde RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9609523", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523" } ], "reference": [ { "type": "PubMed", "id": "29242231", "url": "https://glygen.org/publication/PubMed/29242231" } ] }, { "title": "Site-Specific Profiling of Serum Glycoproteins Using N-Linked Glycan and Glycosite Analysis Revealing Atypical N-Glycosylation Sites on Albumin and alpha-1B-Glycoprotein.", "journal": "Analytical chemistry", "date": "2018", "authors": "Sun S, Hu Y, Jia L, Eshghi ST, Liu Y, Shah P, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P04156", "url": "" }, { "database": "GlyConnect", "id": "2056", "url": "https://glyconnect.expasy.org/browser/proteins/2056" } ], "reference": [ { "type": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "title": "Human prion protein cDNA: molecular cloning, chromosomal mapping, and biological implications.", "journal": "Science", "date": "1986", "authors": "Liao Y C, Lebo R V, Clawson G A, Smuckler E A", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "3014653", "url": "https://glygen.org/publication/PubMed/3014653" } ] }, { "title": "Impact of N-glycosylation site variants during human PrP aggregation and fibril nucleation.", "journal": "Biochimica et biophysica acta. Proteins and proteomics", "date": "2019-10", "authors": "Mishra Rajesh, Elgland Mathias, Begum Afshan, Fyrner Timmy, Konradsson Peter, Nystr\u00f6m Sofie, Hammarstr\u00f6m Per", "evidence": [ { "database": "Automatic Literature Mining", "id": "30935958", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/30935958" } ], "reference": [ { "type": "PubMed", "id": "30935958", "url": "https://glygen.org/publication/PubMed/30935958" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04156", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04156" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Molecular cloning of a human prion protein cDNA.", "journal": "DNA", "date": "1986", "authors": "Kretzschmar H A, Stowring L E, Westaway D, Stubblebine W H, Prusiner S B, Dearmond S J", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "3755672", "url": "https://glygen.org/publication/PubMed/3755672" } ] }, { "title": "Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP).", "journal": "Journal of neurology", "date": "2024-01", "authors": "Van den Broecke Astrid, Decruyenaere Alexander, Schuermans Nika, Verdin Hannah, Ghijsels Jody, Sieben Anne, Dermaut Bart, Hemelsoet Dimitri", "evidence": [ { "database": "RefSeq", "id": "NP_001258490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490" } ], "reference": [ { "type": "PubMed", "id": "37689591", "url": "https://glygen.org/publication/PubMed/37689591" } ] }, { "title": "Elevated E200K Somatic Mutation of the Prion Protein Gene (PRNP) in the Brain Tissues of Patients with Sporadic Creutzfeldt-Jakob Disease (CJD).", "journal": "International journal of molecular sciences", "date": "2023-10-02", "authors": "Won Sae-Young, Kim Yong-Chan, Jeong Byung-Hoon", "evidence": [ { "database": "RefSeq", "id": "NP_001258490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490" } ], "reference": [ { "type": "PubMed", "id": "37834279", "url": "https://glygen.org/publication/PubMed/37834279" } ] }, { "title": "Excess PrPC inhibits muscle cell differentiation via miRNA-enhanced liquid-liquid phase separation implicated in myopathy.", "journal": "Nature communications", "date": "2023-12-08", "authors": "Tao Jing, Zeng Yanping, Dai Bin, Liu Yin, Pan Xiaohan, Wang Li-Qiang, Chen Jie, Zhou Yu, Lu Zuneng, Xie Liwei, Liang Yi", "evidence": [ { "database": "RefSeq", "id": "NP_001258490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258490" } ], "reference": [ { "type": "PubMed", "id": "38065962", "url": "https://glygen.org/publication/PubMed/38065962" } ] }, { "title": "SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer's disease family.", "journal": "Am. J. Med. Genet.", "date": "1995", "authors": "Perry R T, Go R C, Harrell L E, Acton R T", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "7485229", "url": "https://glygen.org/publication/PubMed/7485229" } ] }, { "title": "A variant of Gerstmann-Straussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study.", "journal": "Journal of the neurological sciences", "date": "1994", "authors": "Itoh Y, Yamada M, Hayakawa M, Shozawa T, Tanaka J, Matsushita M, Kitamoto T, Tateishi J, Otomo E", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "7699395", "url": "https://glygen.org/publication/PubMed/7699395" } ] }, { "title": "Gerstmann-Straussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.", "journal": "Neurology", "date": "1995", "authors": "Young K, Jones CK, Piccardo P, Lazzarini A, Golbe LI, Zimmerman TR Jr, Dickson DW, McLachlan DC, St George-Hyslop P, Lennox A, et al.", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "7783876", "url": "https://glygen.org/publication/PubMed/7783876" } ] }, { "title": "A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.", "journal": "Annals of neurology", "date": "1993", "authors": "Pocchiari M, Salvatore M, Cutruzzola F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alema G, Galgani S, Xi YG, et al.", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "7902693", "url": "https://glygen.org/publication/PubMed/7902693" } ] }, { "title": "A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Straussler-Scheinker disease.", "journal": "Neurology", "date": "1993", "authors": "Yamada M, Itoh Y, Fujigasaki H, Naruse S, Kaneko K, Kitamoto T, Tateishi J, Otomo E, Hayakawa M, Tanaka J, et al.", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "7902972", "url": "https://glygen.org/publication/PubMed/7902972" } ] }, { "title": "Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.", "journal": "Neurology", "date": "1994", "authors": "Inoue I, Kitamoto T, Doh-ura K, Shii H, Goto I, Tateishi J", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "7906019", "url": "https://glygen.org/publication/PubMed/7906019" } ] }, { "title": "Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease.", "journal": "Philosophical transactions of the Royal Society of London. Series B, Biological sciences", "date": "1994", "authors": "Gabizon R, Rosenman H, Meiner Z, Kahana I, Kahana E, Shugart Y, Ott J, Prusiner SB", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "7913755", "url": "https://glygen.org/publication/PubMed/7913755" } ] }, { "title": "Genetic and infectious prion diseases.", "journal": "Arch. Neurol.", "date": "1993", "authors": "Prusiner S B", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "8105771", "url": "https://glygen.org/publication/PubMed/8105771" } ] }, { "title": "Demonstration of (Ca(2+)-Mg2+)-ATPase activity of the neural cell adhesion molecule.", "journal": "FEBS letters", "date": "1993", "authors": "Dzhandzhugazyan K, Bock E", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "8262246", "url": "https://glygen.org/publication/PubMed/8262246" } ] }, { "title": "Mutations and polymorphisms in the prion protein gene.", "journal": "Hum. Mutat.", "date": "1993", "authors": "Palmer M S, Collinge J", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "8364585", "url": "https://glygen.org/publication/PubMed/8364585" } ] }, { "title": "Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome.", "journal": "Biochemical and biophysical research communications", "date": "1993", "authors": "Kitamoto T, Ohta M, Doh-ura K, Hitoshi S, Terao Y, Tateishi J", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "8461023", "url": "https://glygen.org/publication/PubMed/8461023" } ] }, { "title": "Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Straussler-Scheinker disease (PrP-P102L mutation).", "journal": "Neurology", "date": "1996", "authors": "Barbanti P, Fabbrini G, Salvatore M, Petraroli R, Cardone F, Maras B, Equestre M, Macchi G, Lenzi GL, Pocchiari M", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "8797472", "url": "https://glygen.org/publication/PubMed/8797472" } ] }, { "title": "Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.", "journal": "Neurology", "date": "1996", "authors": "Mastrianni JA, Iannicola C, Myers RM, DeArmond S, Prusiner SB", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "8909447", "url": "https://glygen.org/publication/PubMed/8909447" } ] }, { "title": "Familial spongiform encephalopathy associated with a novel prion protein gene mutation.", "journal": "Annals of neurology", "date": "1997", "authors": "Nitrini R, Rosemberg S, Passos-Bueno MR, da Silva LS, Iughetti P, Papadopoulos M, Carrilho PM, Caramelli P, Albrecht S, Zatz M, LeBlanc A", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" }, { "database": "dbSNP", "id": "rs74315411", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs74315411" } ], "reference": [ { "type": "PubMed", "id": "9266722", "url": "https://glygen.org/publication/PubMed/9266722" } ] }, { "title": "A prion-linked psychiatric disorder.", "journal": "Nature", "date": "1997", "authors": "Samaia HB, Mari JJ, Vallada HP, Moura RP, Simpson AJ, Brentani RR", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "9384372", "url": "https://glygen.org/publication/PubMed/9384372" } ] }, { "title": "Demonstration of an extracellular ATP-binding site in NCAM: functional implications of nucleotide binding.", "journal": "Biochemistry", "date": "1997", "authors": "Dzhandzhugazyan K, Bock E", "evidence": [ { "database": "Reactome", "id": "R-HSA-419037", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037" } ], "reference": [ { "type": "PubMed", "id": "9398268", "url": "https://glygen.org/publication/PubMed/9398268" } ] }, { "title": "Protective prion protein polymorphisms against sporadic Creutzfeldt-Jakob disease.", "journal": "Lancet (London, England)", "date": "1998", "authors": "Shibuya S, Higuchi J, Shin RW, Tateishi J, Kitamoto T", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "9482303", "url": "https://glygen.org/publication/PubMed/9482303" } ] }, { "title": "Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity.", "journal": "Journal of neuropathology and experimental neurology", "date": "1998", "authors": "Piccardo P, Dlouhy SR, Lievens PM, Young K, Bird TD, Nochlin D, Dickson DW, Vinters HV, Zimmerman TR, Mackenzie IR, Kish SJ, Ang LC, De Carli C, Pocchiari M, Brown P, Gibbs CJ Jr, Gajdusek DC, Bugiani O, Ironside J, Tagliavini F, Ghetti B", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "9786248", "url": "https://glygen.org/publication/PubMed/9786248" } ] }, { "title": "A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.", "journal": "Am. J. Hum. Genet.", "date": "1998", "authors": "Xiang F, Almqvist E W, Huq M, Lundin A, Hayden M R, Edstr\u00f6m L, Anvret M, Zhang Z", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "9792871", "url": "https://glygen.org/publication/PubMed/9792871" } ] }, { "title": "Complete genomic sequence and analysis of the prion protein gene region from three mammalian species.", "journal": "Genome Res.", "date": "1998", "authors": "Lee IY, Westaway D, Smit AF, Wang K, Seto J, Chen L, Acharya C, Ankener M, Baskin D, Cooper C, Yao H, Prusiner SB, Hood LE", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "reference": [ { "type": "PubMed", "id": "9799790", "url": "https://glygen.org/publication/PubMed/9799790" } ] } ], "pathway": [ { "id": "R-HSA-419037", "name": "NCAM1 interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-419037", "resource": "Reactome", "description": "NCAM1 interactions" }, { "id": "R-HSA-9609523", "name": "Insertion of tail-anchored proteins into the endoplasmic reticulum membrane", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9609523", "resource": "Reactome", "description": "Insertion of tail-anchored proteins into the endoplasmic reticulum membrane" } ], "orthologs": [ { "uniprot_canonical_ac": "P04925-1", "protein_name": "Major prion protein", "gene_name": "Prnp", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MANLGYWLLALFVTMWTDVGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQGGTWGQPHGGGWGQPHGGSWGQPHGGSWGQPHGGGWGQGGGTHNQWNKPSKPKTNLKHVAGAAAAGAVVGGLGGYMLGSAMSRPMIHFGNDWEDRYYRENMYRYPNQVYYRPVDQYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCVTQYQKESQAYYDGRRSSSTVLFSSPPVILLISFLIFLIVG", "length": 254 }, "evidence": [ { "id": "45919086", "url": "http://www.informatics.jax.org/homology/45919086", "database": "MGI" }, { "id": "P04156", "url": "https://omabrowser.org/oma/group/P04156/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P13852-1", "protein_name": "Major prion protein", "gene_name": "Prnp", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MANLGYWLLALFVTTCTDVGLCKKRPKPGGWNTGGSRYPGQGSPGGNRYPPQSGGTWGQPHGGGWGQPHGGGWGQPHGGGWGQPHGGGWSQGGGTHNQWNKPSKPKTNLKHVAGAAAAGAVVGGLGGYMLGSAMSRPMLHFGNDWEDRYYRENMYRYPNQVYYRPVDQYSNQNNFVHDCVNITIKQHTVTTTTKGENFTETDVKMMERVVEQMCVTQYQKESQAYYDGRRSSAVLFSSPPVILLISFLIFLIVG", "length": 254 }, "evidence": [ { "id": "45919086", "url": "http://www.informatics.jax.org/homology/45919086", "database": "MGI" }, { "id": "P04156", "url": "https://omabrowser.org/oma/group/P04156/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 40, "go_terms": [ { "name": "regulation of potassium ion transmembrane transport", "id": "GO:1901379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901379", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "regulation of intracellular calcium activated chloride channel activity", "id": "GO:1902938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902938", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "negative regulation of interleukin-17 production", "id": "GO:0032700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032700", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "negative regulation of interleukin-2 production", "id": "GO:0032703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032703", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "intracellular copper ion homeostasis", "id": "GO:0006878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006878", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "positive regulation of protein tyrosine kinase activity", "id": "GO:0061098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061098", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "negative regulation of long-term synaptic potentiation", "id": "GO:1900272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900272", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "neuron projection maintenance", "id": "GO:1990535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990535", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "negative regulation of type II interferon production", "id": "GO:0032689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032689", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "negative regulation of amyloid-beta formation", "id": "GO:1902430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902430", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "response to amyloid-beta", "id": "GO:1904645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904645", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050730", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "positive regulation of protein localization to plasma membrane", "id": "GO:1903078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903078", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "cell cycle", "id": "GO:0007049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007049", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "negative regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070885", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to membrane", "id": "GO:0090314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090314", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "calcium-mediated signaling using intracellular calcium source", "id": "GO:0035584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035584", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "cellular response to copper ion", "id": "GO:0071280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071280", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "negative regulation of dendritic spine maintenance", "id": "GO:1902951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902951", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "negative regulation of activated T cell proliferation", "id": "GO:0046007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046007", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "negative regulation of T cell receptor signaling pathway", "id": "GO:0050860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050860", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "regulation of calcium ion import across plasma membrane", "id": "GO:1905664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905664", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "negative regulation of DNA-binding transcription factor activity", "id": "GO:0043433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043433", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "negative regulation of protein processing", "id": "GO:0010955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010955", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "negative regulation of amyloid precursor protein catabolic process", "id": "GO:1902992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902992", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "regulation of glutamate receptor signaling pathway", "id": "GO:1900449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900449", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "dendritic spine maintenance", "id": "GO:0097062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097062", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 21, "go_terms": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "type 5 metabotropic glutamate receptor binding", "id": "GO:0031802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031802", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "lamin binding", "id": "GO:0005521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005521", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "cuprous ion binding", "id": "GO:1903136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903136", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "cupric ion binding", "id": "GO:1903135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903135", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "glycosaminoglycan binding", "id": "GO:0005539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005539", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "aspartic-type endopeptidase inhibitor activity", "id": "GO:0019828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019828", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "ATP-dependent protein binding", "id": "GO:0043008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043008", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "molecular function activator activity", "id": "GO:0140677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140677", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 19, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "extrinsic component of membrane", "id": "GO:0019898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019898", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "inclusion body", "id": "GO:0016234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016234", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" }, { "name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "major prion protein isoforms 1/2 N-glycosylated 1 (human)", "definition": "A major prion protein isoforms 1/2 (human) that has been N-glycosylated at the residue equivalent to Asn-197 of the amino acid sequence represented by UniProtKB:P04156-1, in which the glycan composition is represented by GlyTouCan:G25987BV. Example: UniProtKB:P04156-1, Asn-197, MOD:00160~GNO:G25987BV. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053314", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053314" } ] }, { "name": "major prion protein isoforms 1/2 N-glycosylated 2 (human)", "definition": "A major prion protein isoforms 1/2 (human) that has been N-glycosylated at the residue equivalent to Asn-197 of the amino acid sequence represented by UniProtKB:P04156-1, in which the glycan composition is represented by GlyTouCan:G59937CP. Example: UniProtKB:P04156-1, Asn-197, MOD:00160~GNO:G59937CP. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053315", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053315" } ] }, { "name": "major prion protein isoforms 1/2 N-glycosylated 3 (human)", "definition": "A major prion protein isoforms 1/2 (human) that has been N-glycosylated at the residue equivalent to Asn-197 of the amino acid sequence represented by UniProtKB:P04156-1, in which the glycan composition is represented by GlyTouCan:G88725PI. Example: UniProtKB:P04156-1, Asn-197, MOD:00160~GNO:G88725PI. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053316", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053316" } ] } ], "site_annotation": [ { "start_pos": 181, "end_pos": 183, "annotation": "n_glycosylation_sequon" }, { "start_pos": 197, "end_pos": 199, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "The glycosylation pattern (the amount of mono-, di- and non-glycosylated forms or glycoforms) seems to differ in normal and CJD prion.", "evidence": [ { "database": "UniProtKB", "id": "P04156", "url": "https://www.uniprot.org/uniprot/P04156" }, { "database": "PubMed", "id": "12214108", "url": "https://glygen.org/publication/PubMed/12214108" } ] } ], "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": [ 181, 197 ], "o_linked_sites": [ 82, 95, 186, 192 ], "snv_sites": [ 173, 181, 183, 199 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 181, "end_pos": 183 }, { "start_pos": 197, "end_pos": 199 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 6 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 11 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 6 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 107 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }