ESEfinder: A web resource to identify exonic splicing enhancers

Luca Cartegni, Jinhua Wang, Zhengwei Zhu, Michael Q. Zhang, Adrian R. Krainer

Research output: Contribution to journalArticlepeer-review

1310 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)3568-3571
Number of pages4
JournalNucleic acids research
Volume31
Issue number13
DOIs
StatePublished - Jul 1 2003

Bibliographical note

Funding Information:
supported by NIH grants GM42699 to A.R.K. and CA88351 and HG01696 to M.Q.Z.

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