ArticleNucleic acids research2004
RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons.
Article in Nucleic acids research, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 157 papers.
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Who cites it
157 citing papers in PubMed.
- Genome-wide association study reveals class I MHC-restricted T cell-associated molecule gene (CRTAM) variants interact with vitamin D levels to affect asthma exacerbations.The Journal of allergy and clinical immunology · 2012Trial
- Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.European journal of human genetics : EJHG · 2026Article
- Widespread naturally variable human exons aid genetic interpretation.Nature communications · 2025Article
- Genome-wide functional annotation and interpretation of splicing variants: toward RNA-targeted therapies.Journal of human genetics · 2025Review
- SRSF6 and SRSF1 coordinately enhance the inclusion of humanNAR molecular medicine · 2025Article
- From computational models of the splicing code to regulatory mechanisms and therapeutic implications.Nature reviews. Genetics · 2025Review
- Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.Methods in molecular biology (Clifton, N.J.) · 2025Article
- In Vivo Evaluation of Multiple Exon Skipping with Peptide-PMOs in Cardiac and Skeletal Muscles in Dystrophic Dogs.Methods in molecular biology (Clifton, N.J.) · 2025Article
- RNA Splicing Aberrations in Hereditary Cancer: Insights from Turkish Patients.Current issues in molecular biology · 2024Article
- Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes.International journal of molecular sciences · 2024Article
- Identification of experimentally-supported poly(A) sites in single-cell RNA-seq data with SCINPAS.NAR genomics and bioinformatics · 2023Article
- Next Generation Exon 51 Skipping Antisense Oligonucleotides for Duchenne Muscular Dystrophy.Nucleic acid therapeutics · 2023Article
- Identification and in silico characterization of CSRP3 synonymous variants in dilated cardiomyopathy.Molecular biology reports · 2023Article
- Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.American journal of human genetics · 2023Article
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- In rice splice variants that restore the reading frame after frameshifting indel introduction are common, often induced by the indels and sometimes lead to organism-level rescue.PLoS genetics · 2022Article
97 more citing papers are in PubMed but not listed here.
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7 authors.
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Abstract
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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