ESEfinder: a web resource to identify exonic splicing enhancers

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ID: 291941
2003
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Abstract
Point mutations frequently cause genetic diseases by disrupting the correct pattern of pre-mRNA splicing. The effect of a point mutation within a coding sequence is traditionally attributed to the deduced change in the corresponding amino acid. However, some point mutations can have much more severe effects on the structure of the encoded protein, for example when they inactivate an exonic splicing enhancer (ESE), thereby resulting in exon skipping. ESEs also appear to be especially important in exons that normally undergo alternative splicing. Different classes of ESE consensus motifs have been described, but they are not always easily identified. ESEfinder (http://exon.cshl.edu/ESE/) is a web-based resource that facilitates rapid analysis of exon sequences to identify putative ESEs responsive to the human SR proteins SF2/ASF, SC35, SRp40 and SRp55, and to predict whether exonic mutations disrupt such elements.
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openalex_W2129682060 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Luca Cartegni, Jinhua Wang, Zhengwei Zhu, Michael Q. Zhang, Adrian R. Krainer
Journal Nucleic Acids Research
Year 2003
DOI
10.1093/nar/gkg616
URL
https://academic.oup.com/nar/article-pdf/31/13/3568/9487615/gkg616.pdf
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