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Table 3 Summary of PMS2 exons predicted to harbor strong and weak canonical splice sites

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

Software

Weak donor

Strong donor

Mean

(CI 90%)

Weak acceptor

Strong acceptor

Mean

(CI 90%)

ESEfinder 3.0

4, 5, 7, 8, 12, 14

1, 2, 9, 10, 11, 13

5.09

(2.83–7.36)

3, 5, 8, 11

4, 7, 9, 10, 13, 14

6.24

(4.18–8.30)

FSplice

4, 6, 8, 12

2, 9, 10, 13, 14

11.38

(9.38–13.38)

2, 3, 8, 14

7, 10, 12, 13

7.77

(6.20–9.33)

MaxEntScan

4, 6, 8

2, 9, 10, 13, 14

8.67

(7.60–9.74)

2, 3, 8, 14

6, 7, 10, 13

8.17

(7.06–9.27)

NetGene2

4, 7, 8

3, 9, 10, 12, 13, 14

0.68

(0.50–0.86)

3, 5, 8, 11, 14

4, 6, 9, 12, 13, 15

0.51

(0.35–0.67)

NNSplice

4, 6

1, 2, 3, 9, 10, 13, 14

0.88

(0.79–0.96)

2, 8, 15

7, 9, 10, 13, 14

0.66

(0.50–0.83)

SpliceAI

4, 6, 8

1, 3, 5, 9, 10, 12, 13, 14

0.94

(0.91–0.98)

4, 6, 8

2, 3, 5, 9, 10, 11, 12, 13, 14

0.91

(0.84–0.97)

Spliceator

4, 7, 12

1, 2, 3, 5, 6, 8, 9, 10, 11, 13, 14

0.78

(0.58–0.98)

5, 8, 11

2, 3, 4, 6, 7, 9, 10, 12, 13, 14

0.77

(0.57–0.97)

SpliceRover

1, 4

3, 5, 8, 10, 11, 13, 14

0.82

(0.69–0.95)

8

-

0.96

(0.93-1)

  1. Weak splice sites were defined as those with scores below the lower bound of the 90% confidence interval (90% CI), while strong splice sites had scores above the upper bound