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Table S3 Major enriched (p < 0.001) categories for genes harbouring multiple mutations in stop codons

From: A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease

Category

Term

Count

%

pvalue

Genes

SP_PIR_KEYWORDS

DNA-binding

8

42.11

9.77E-04

SOX10, PHOX2B, MECP2,

PAX6, HR, SHOX, ATM, FOXE3

SP_PIR_KEYWORDS

Peters' anomaly

2

10.53

0.0047

PAX6, FOXE3

SP_PIR_KEYWORDS

Transcription regulation

7

36.84

0.0082

SOX10, PHOX2B, MECP2,

PAX6, HR, SHOX, FOXE3

GOTERM_MF_FAT

GO:0043565 ~ sequence-specific DNA binding

5

26.32

0.0086

SOX10, PHOX2B, PAX6, SHOX,

FOXE3

GOTERM_MF_FAT

GO:0003700 ~ transcription factor activity

6

31.58

0.0089

SOX10, PHOX2B, PAX6, HR,

SHOX, FOXE3

SP_PIR_KEYWORDS

Transcription

7

36.84

0.0092

SOX10, PHOX2B, MECP2,

PAX6, HR, SHOX, FOXE3