ESEfinder: a web resource to identify exonic splicing enhancers

Luca Cartegni

Jinhua Wang

Zhengwei Zhu

Michael Zhang

Adrian Krainer

Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA

^{To whom correspondence should be addressed. Tel: +1 516 3678417; Fax: +1 516 3678453; Email:}ude.lhsc@reniark

Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA

Received 2003 Feb 14; Revised 2003 Apr 7; Accepted 2003 Apr 7.

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.

Abstract

ACKNOWLEDGEMENTS

We thank the many users that sent us useful comments and suggestions which have been incorporated in the current release. We thank Xavier Roca for comments on the manuscript and Gengxin Chen for assistance. This work was supported by NIH grants GM42699 to A.R.K. and CA88351 and HG01696 to M.Q.Z.

ACKNOWLEDGEMENTS

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