The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons
Open accessAbstract
A typical gene contains two levels of information: a sequence that encodes a particular protein and a host of other signals that are necessary for the correct expression of the transcript. While much attention has been focused on the effects of sequence variation on the amino acid sequence, variations that disrupt gene processing signals can dramatically impact gene function. A variation that disrupts an exonic splicing enhancer (ESE), for example, could cause exon skipping which would result in the exclusion of an entire exon from the mRNA transcript. RESCUE-ESE, a computational approach used in conjunction with experimental validation, previously identified 238 candidate ESE hexamers in human genes. The RESCUE-ESE method has recently been implemented in three additional species: mouse, zebrafish and pufferfish. Here we describe an online ESE analysis tool (http://genes.mit.edu/burgelab/rescue-ese/) that annotates RESCUE-ESE hexamers in vertebrate exons and can be used to predict splicing phenotypes by identifying sequence changes that disrupt or alter predicted ESEs.
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Citations
Cites
Listening to silence and understanding nonsense: exonic mutations that affect splicing
Cartegni, L., Chew, S. L., & Krainer, A. R. (2002) · Nature Reviews Genetics · doi:10.1038/nrg775 · Cited by 2,209
Cited by
Splicing in disease: disruption of the splicing code and the decoding machinery
Wang, G.-S., & Cooper, T. A. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2164 · Cited by 1,050
Castle, J. C., Zhang, C., Shah, J. K., Kulkarni, A. V., Kalsotra, A., Cooper, T. A., & Johnson, J. M. (2008) · Nature Genetics · doi:10.1038/ng.264 · Cited by 324
Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2
Cartegni, L., Hastings, M. L., Calarco, J. A., de Stanchina, E., & Krainer, A. R. (2006) · The American Journal of Human Genetics · doi:10.1086/498853 · Cited by 306
Pre-mRNA splicing is facilitated by an optimal RNA polymerase II elongation rate
Fong, N., Kim, H., Zhou, Y., Ji, X., Qiu, J., Saldi, T., Diener, K., Jones, K., Fu, X.-D., & Bentley, D. L. (2014) · Genes & Development · doi:10.1101/gad.252106.114 · Cited by 287
MMSplice: modular modeling improves the predictions of genetic variant effects on splicing
Cheng, J., Nguyen, T. Y. D., Cygan, K. J., Çelik, M. H., Fairbrother, W. G., Avsec, Ž., & Gagneur, J. (2019) · Genome Biology · doi:10.1186/s13059-019-1653-z · Cited by 235
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Metadata
- Authors
- Fairbrother, W. G., Yeo, G. W., Yeh, R., Goldstein, P., Mawson, M., Sharp, P. A., & Burge, C. B.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 2004-07-01
- Volume
- 32
- Issue
- Web Server
- Pages
- W187-W190
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- OpenAlex
- W2090335524
- Cited by
- 289
- References
- 1
- FWCI
- 8.20
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Fairbrother, W. G., Yeo, G. W., Yeh, R., Goldstein, P., Mawson, M., Sharp, P. A., & Burge, C. B. (2004). RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons. Nucleic Acids Research. https://doi.org/10.1093/nar/gkh393
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