PubMed:9465301 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/9465301","sourcedb":"PubMed","sourceid":"9465301","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/9465301","text":"Genomic organization of the UBE3A/E6-AP gene and related pseudogenes.\nThe UBE3A gene encodes the E6-AP ubiquitin-protein ligase and has recently been shown to be mutated in Angelman syndrome patients who lack 15q11-q13 deletions or chromosome 15 paternal uniparental disomy. Previous UBE3A cDNA analysis has shown a coding region of approximately 2.6 kb and a 3'-untranslated region (UTR) of \u003c 50 bp, whereas Northern analysis has indicated mRNA sizes of 5-8 kb. We have analyzed additional cDNA clones and provide evidence for an additional 0.5 kb of 5'-UTR and \u003e 2 kb of 3'-UTR. We have established the genomic organization of UBE3A and the sequence of intron-exon borders. We have also mapped two highly homologous processed pseudogenes, UBE3AP1 and UBE3AP2, to chromosomes 2 and 21, respectively, and determined their genomic organization. These results will form the basis for studies of mutation and imprinting of UBE3A.","tracks":[{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"Modifier:D017204"},{"id":"T2","span":{"begin":255,"end":273},"obj":"SpecificDisease:D024182"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T2","pred":"source","obj":"NCBIDiseaseCorpus"}]},{"project":"NCBI-Disease-Test","denotations":[{"id":"T941","span":{"begin":173,"end":190},"obj":"Modifier"},{"id":"T942","span":{"begin":255,"end":273},"obj":"SpecificDisease"}],"attributes":[{"id":"A941","pred":"database_id","subj":"T941","obj":"D017204"},{"id":"A942","pred":"database_id","subj":"T942","obj":"D024182"},{"subj":"T941","pred":"source","obj":"NCBI-Disease-Test"},{"subj":"T942","pred":"source","obj":"NCBI-Disease-Test"}]},{"project":"NCBI-Disease-Test-Assistant-Knowledge","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Test-Assistant-Knowledge"}]},{"project":"NCBI-Disease-Test-4o-NoGuidelineInPrompt","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Test-4o-NoGuidelineInPrompt"}]},{"project":"NCBI-Disease-Test-4o-GuidelineInPrompt","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Test-4o-GuidelineInPrompt"}]},{"project":"NCBI-Disease-Corpus-UpdatedGuideline","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-UpdatedGuideline"}]},{"project":"NCBI-Disease-Corpus-humanintheloop","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-humanintheloop"}]},{"project":"NCBI-Disease-Corpus-rezarta1","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"Modifier"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-rezarta1"}]},{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T941","span":{"begin":173,"end":190},"obj":"Modifier"},{"id":"T942","span":{"begin":255,"end":273},"obj":"SpecificDisease"}],"attributes":[{"id":"A941","pred":"database_id","subj":"T941","obj":"D017204"},{"id":"A942","pred":"database_id","subj":"T942","obj":"D024182"},{"subj":"T941","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T942","pred":"source","obj":"NCBI-Disease-Corpus-All"}]},{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"}]},{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"Modifier"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"}]},{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"}]},{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"}]},{"project":"NCBI-Disease-Corpus-o3-2","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-o3-2"}]},{"project":"NCBI-Disease-Corpus-high-o3-1","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"Modifier"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-high-o3-1"}]},{"project":"NCBI-Disease-Corpus-high-o3-2","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-high-o3-2"}]},{"project":"12345","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"12345"}]},{"project":"123456","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"123456"}]},{"project":"NCBI-Disease-Corpus-GPT5-withguidelines","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"Modifier"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-withguidelines"}]},{"project":"NCBI-Disease-Corpus-GPT5-noguidelines","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-GPT5-noguidelines"}]},{"project":"NCBI-Disease-Corpus-GPT5-guidelineprompt","denotations":[{"id":"T1","span":{"begin":173,"end":190},"obj":"Modifier"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-C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