title: Exonic enhancers: proceed with caution in exome and genome sequencing studies.
abstract: Exonic enhancers (eExons) are coding exons that also function as enhancers of the gene in which they reside or (a) nearby gene(s). Mutations that affect the enhancer activity of these eExons have been associated with human disease. Therefore, eExon mutations should be taken into account in exome and genome sequencing projects, not only because of the ability of these mutations to modify the encoded proteins but also because of their effects on enhancer activity.
authors: Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, 94158, USA. nadav.ahituv@ucsf.edu.|Institute for Human Genetics, University of California San Francisco, San Francisco, CA, 94158, USA. nadav.ahituv@ucsf.edu.
authors: Nadav
authors: N
authors: Ahituv
mesh_terms: D056445:Cytoplasmic Dyneins / Q000235:genetics; D004742:Enhancer Elements, Genetic; D059472:Exome; D015894:Genome, Human; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D009154:Mutation; D017422:Sequence Analysis, DNA / Q000379:methods*; D014157:Transcription Factors / Q000235:genetics
chemical_list: C100596:DLX5 protein, human; C491014:DLX6 protein, human; C000596072:DYNC1I1 protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors; D056445:Cytoplasmic Dyneins