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Table 2 Number of predicted splicing events induced by the same number of disease associated and control SNPs randomly selected from the loci of 238 genes linked to ASD.

From: A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements

Type of event

997 SNPs

539 SNPs

 

Alzheimer's associated

Control

Ratio

Breast cancer associated

Control

Ratio

Predicted exon corresponding to an annotated exon disappears

0

2

0

0

0

-

Predicted exon corresponding to an annotated exon changes a score

43

12

3.58

11

2

5.5

Predicted exon sharing a SS with an annotated exon changes a score

242

78

3.10

59

29

2.03

Predicted exon sharing a SS with an annotated exon disappears

23

4

5.75

6

1

6.00

New predicted cryptic exon is created sharing a SS with with an annotated exon

26

9

2.89

5

1

5.00

Predicted exon disappears

50

49

1.02

30

17

1.76

New predicted cryptic exon is created

50

46

1.08

24

25

0.96

  1. Comparison is made in context of known annotated reference exons. Not all the originally available SNPs associated with a disorder mapped to loci of protein coding genes, therefore number of SNPs reported here is lower than originally obtained [see Subsection Constructing the test set].