Cartegni, L., Wang, J. H., Zhu, Z. W., Zhang, M. Q., Krainer, A. R. (July 2003) ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Research, 31 (13). pp. 3568-3571. ISSN 0305-1048
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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.
| Item Type: | Paper |
|---|---|
| Uncontrolled Keywords: | MUTATIONS NONSENSE GENE IDENTIFICATION PROTEINS |
| Subjects: | bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification bioinformatics > genomics and proteomics > genetics & nucleic acid processing bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > exons > exon splicing bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > exons bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > pre-mRNA |
| CSHL Authors: | |
| Communities: | CSHL labs > Krainer lab CSHL labs > Zhang lab |
| Depositing User: | Matt Covey |
| Date: | July 2003 |
| Date Deposited: | 26 Jun 2013 19:20 |
| Last Modified: | 26 Jun 2013 19:20 |
| PMCID: | PMC169022 |
| Related URLs: | |
| URI: | https://repository.cshl.edu/id/eprint/27946 |
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