Ahituv Nadav
Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, 94158, USA.
Institute for Human Genetics, University of California San Francisco, San Francisco, CA, 94158, USA.
Genome Med. 2016 Feb 8;8(1):14. doi: 10.1186/s13073-016-0277-0.
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.
外显子增强子（eExons）是具有编码功能的外显子，它们同时也作为其所驻留基因或附近基因的增强子发挥作用。影响这些eExons增强子活性的突变与人类疾病相关。因此，在外显子组和基因组测序项目中应考虑eExon突变，这不仅是因为这些突变能够修饰编码的蛋白质，还因为它们对增强子活性的影响。
