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Table 1 Exonic splicing regulatory elements datasets used in this study

From: Genomic features defining exonic variants that modulate splicing

ESR dataset

Format

Method

Reference

ESEFinder

4 ESE PWMs

Set of four experimentally derived ESE binding site matrices for four SR proteins (SF2, SC35, SRp40, SRp55) identified by an in vitro SELEX approach with specific SR protein complementation

[14]

Fas- (hex3)ESS

176 ESS hexamers

Set of experimentally derived ESSs identified in vivo through cloning of random decamers into fluorescence activated minigene reporter by selecting those sequences that cause exon skipping. Unique candidates were clustered and represented by non-degenerate hexamers

[15]

RESCUE-ESE

238 ESE hexamers

Set of putative ESEs derived from overrepresented hexamer motifs in exons versus introns and exons with weak splice sites versus exons with strong splice sites

[17]

PESX

2,096 ESE/974 ESS octomers

Set of putative ESEs (PESE) and ESSs (PESS) overrepresented and underrepresented in internal non-coding exons versus unspliced pseudoexons and 5' UTRs of intronless genes

[18]

NI-ESR

979 ESE/496 ESS hexamers

Uses the neighborhood inference (NI) algorithm to identify new candidate ESEs and ESSs using a set of previously identified ESEs/ESSs. The NI algorithm searches the sequence neighborhood of a particular hexamer and scores it by whether the surrounding sequences contain mostly known ESEs, ESSs or neither. Predicted candidates were verified by cross-validation and a subset was experimentally validated

[19]

Ast-ESR

285 hexamers

Motifs based on computational analysis of overrepresented and conserved dicodons in orthologous human-mouse exons. Putative ESRs are not labeled as ESEs or ESSs as a number were found to act as both enhancers and silencers in minigene assays depending on sequence context.

[16]

Composite-ESR

400 ESE/217 ESS hexamers

Combined set of ESE/ESS based on RESCUE-ESE, PESE, PESS and Fas-ESS datasets

[60]

  1. PWM, position weight matrix.