Skip to main content

Table 2 Wild-type ESRseq and ΔESRseq scores comparison between predicted splicing variants (DS > 0.2) and variants with no predicted splicing impact (DS < 0.2) in exons enriched in acceptor loss (AL) and donor loss (DL) variants

From: In silico splicing analysis of the PMS2 gene: exploring alternative molecular mechanisms in PMS2-associated Lynch syndrome

Exon

ESRseq score wild type

ΔESRseq score

 

p-value

p-value

Exon 4

0.7868

0.0598

Exon 6

0.5272

0.0013*

Exon 8

0.1429

0.5495

Exon 11

0.005

0.2413

Exon 14

0.0076

0.8120

  1. Statistically significant results (p < 0.05, Mann-Whitney U test) are highlighted in bold. *Student’s t-test
  2. Exons 11 and 14 are enriched in missense variants with predicted splicing impact that are located in enhancer splicing elements. Exon 6 is enriched in missense variants with predicted splicing impact that modify the strength of enhancer splicing elements (increase or decrease the wild type ESRseq score)
Back to article page

BMC Genomic Data

ISSN: 2730-6844

Contact us