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Table 1 Summarized overview of the number of 5'UTR variants that remained after functional classification and filtering

From: Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

 

GE cohort

CMGG cohort

Total

%

uAUG gained

30

5

35

2.41

Change in existing uORF

17

1

18

1.24

Alteration of classical or retinal primary Kozak context

16

7

23

1.59

Splicing

29

10

39

2.69

Change in translational efficiency

1

0

1

0.07

Change in secondary structure minimum free energy

194

43

237

16.34

Overlapping a retinal transcription start site or an IRES

692

69

761

52.48

> 1 category

276

60

336

23.17

Total

1255

195

1450

 
  1. CMGG Center for Medical Genetics Ghent, GE Genomics England, IRES internal ribosomal entry site, uORF upstream open reading frame