title: ESEfinder: A web resource to identify exonic splicing enhancers.
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.
authors.affiliation: Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.
authors.forename: Luca
authors.initials: L
authors.lastname: Cartegni
authors.forename: Jinhua
authors.initials: J
authors.lastname: Wang
authors.forename: Zhengwei
authors.initials: Z
authors.lastname: Zhu
authors.forename: Michael Q
authors.initials: MQ
authors.lastname: Zhang
authors.forename: Adrian R
authors.initials: AR
authors.lastname: Krainer
mesh_terms: D001483:Base Sequence; D016384:Consensus Sequence; D004742:Enhancer Elements, Genetic; D005091:Exons; D006801:Humans; D020407:Internet; D017354:Point Mutation; D012322:RNA Precursors / Q000737:chemistry / Q000378:metabolism; D012326:RNA Splicing; D012333:RNA, Messenger / Q000737:chemistry; D016601:RNA-Binding Proteins / Q000378:metabolism; D017423:Sequence Analysis, RNA / Q000379:methods*; D012984:Software; D014584:User-Computer Interface
chemical_list: D012322:RNA Precursors; D012333:RNA, Messenger; D016601:RNA-Binding Proteins