Abolished Natural SS
|
7-4 F
|
ATM
|
c.3747-1G > Aa
|
Novel
|
11.0
|
0.1
|
−10.9
|
Exon skipping and use of alternative splice forms
|
4-1 F
|
ATM
|
c.6347 + 1G > Tb
|
Novel
|
10.4
|
−8.3
|
−18.6
|
Exon skipping
|
Leaky Natural SS
|
4-2B
|
CHEK2
|
c.320-5 T > Aa
|
rs121908700
|
6.8
|
4.1
|
−2.7
|
Leaky splicing with intron inclusion
|
0.08
|
Activated Cryptic SS
|
7-3E
|
BRCA1
|
c.548-293G > A
|
rs117281398
|
−12.1
|
2.6
|
14.7
|
Cryptic site not expected to be used. Total information for natural exon is stronger than cryptic exon.
|
0.74
|
7-4A
|
BRCA2
|
c.7618-269_7618-260del10
|
Novel
|
3.9
|
9.4
|
5.5
|
Cryptic site not expected to be used. Total information for natural exon is stronger than cryptic exon.
|
Pseudoexon formation due to activated acceptor SS
|
7-3 F
|
BRCA2
|
c.8332-805G > A
|
Novel
|
−9.3
|
5.4
|
5.6e
|
6065/211/592f
|
7-3D
|
CDH1
|
c.164-2023A > G
|
rs184740925
|
−6.6
|
4.3
|
6.5e
|
61,236/224/1798f
|
0.3
|
5-3H
|
CDH1
|
c.2296-174 T > A
|
rs565488866
|
7.3
|
8.5
|
5.0e
|
1175/50/124f
|
0.02
|
Pseudoexon formation due to activated donor SS
|
3-6A
|
BRCA1
|
c.212 + 253G > A
|
rs189352191
|
4.1
|
6.7
|
5.2e
|
186/63/1250f
|
0.08
|
5-2G
|
BRCA2
|
c.7007 + 2691G > A
|
rs367890577
|
4.7
|
7.2
|
7.7e
|
2589/103/5272f
|
0.02
|
Affected TFBSs
|
7-4B
|
BRCA1
|
c.-8895G > A
|
Novel
|
10.9
|
−0.2
|
−11.1
|
GATA-3 (GATA3)
|
5-3E
|
CDH1
|
c.-54G > C
|
rs5030874
|
1.7
|
12.0
|
10.4
|
E2F-4 (E2F4)
|
7-4E
|
0.16
|
5-2B
|
PALB2
|
c.-291C > G
|
rs552824227
|
12.1
|
−1.3
|
−13.4
|
GABPα (GABPA)
|
0.1
|
7-2 F
|
TP53
|
c.-28-3132 T > C
|
rs17882863
|
−6.3
|
10.9
|
17.2
|
RUNX3 (RUNX3)
|
0.3
|
4-1A
|
TP53
|
c.-28-1102 T > C
|
rs113451673
|
5.1
|
12.3
|
7.2
|
E2F-4 (E2F4)
|
0.4
|
8.0
|
12.9
|
4.8
|
Sp1 (SP1)
|
Affected RBBSs
|
7-4G
|
ATM
|
c.-244 T > A
|
rs539948218
|
9.8
|
−19.9
|
−29.7
|
RBFOX
|
c.-744 T > A
|
0.04
|
c.-1929 T > A
|
c.-3515 T > A
|
5-3C
|
CDH1
|
c.*424 T > A
|
Novel
|
−20.3
|
9.6
|
29.9
|
SF3B4
|
8.2
|
1.8
|
−6.4
|
CELF4
|
7-2E
|
CHEK2
|
c.-588G > A
|
rs141568342
|
10.9
|
3.7
|
−7.2
|
BX511012.1
|
4-3C.5-4G
|
CHEK2
|
c.-345C > Tc
|
rs137853007
|
3.3
|
11.4
|
8.2
|
SF3B4
|
3-1A
|
TP53
|
c.-107 T > C
|
rs113530090
|
10.5
|
4.5
|
−6.0
|
ELAVL1
|
4-1H
|
c.-188 T > C
|
0.72
|
4-2H
|
TP53
|
c.*1175A > C
|
rs78378222
|
10.7
|
4.1
|
−6.6
|
KHDRBS1
|
7-2 F
|
c.*1376A > C
|
0.26
|
|
c.*1464A > C
|