Exon
|
Predicted ESE
|
ESE location in exon
|
Sequence change
|
Classa
|
Number of times reported
|
Shared or conservedb
|
Affect on ESEc
|
---|
2
|
SRp55
|
53
|
T172C
|
M-UV
|
3
|
Conserved
|
Decrease
|
3
|
SRp55
|
41
|
A243G
|
M-UV
|
3
|
Conserved
|
Increase
|
5
|
SRp40
|
72
|
A330G
|
M
|
16
|
Conserved
|
Increase
|
6
|
SF2/ASF
|
76
|
G411C
|
M-UV
|
1
|
Shared
|
Increase
|
8
|
SC35
|
47
|
A609C
|
M-UV
|
1
|
Shared
|
Increase
|
12
|
SRp40
|
82
|
C4302T
|
NS
|
26
|
Conserved
|
Lose
|
13
|
SF2/ASF
|
1
|
C4305T
|
NS
|
2
|
Shared
|
Lose
|
16
|
SC35
|
113
|
4917del15
|
IFD
|
1
|
Shared
|
Lose
|
17
|
SF2/ASF
|
68
|
C5173T
|
M-UV
|
1
|
Shared
|
Losed
|
18
|
SF2/ASF
|
4
|
G5199T
|
NS
|
10
|
Shared
|
Losed
|
18
|
SC35
|
22
|
G5215T
|
M
|
1
|
Shared
|
Lose
|
| | |
G5215A
|
M
|
2
| |
Decrease
|
20
|
SRp40
|
14
|
T5326C
|
M-UV
|
6
|
Shared
|
Decrease
|
| | |
A5328T
|
NS
|
1
| |
Decreased
|
| | |
G5331A
|
M-UV
|
4
| |
Decreased
|
| | |
G5332A
|
M-UV
|
2
| |
Losed
|
| | |
5332del3
|
IFD
|
2
| |
Losed
|
20
|
SF2/ASF
|
15
|
A5328T
|
NS
|
1
|
Shared
|
Decreased
|
| | |
G5331A
|
M-UV
|
4
| |
Decreased
|
| | |
G5332A
|
M-UV
|
2
| |
Decreased
|
| | |
5332del3
|
IFD
|
2
| |
Losed
|
20
|
SRp40
|
29
|
T5341G
|
M-UV
|
3
|
Shared
|
Lose
|
- aClassification in Breast Cancer Information Core database: IFD, in-frame deletion; M, missense; M-UV, missense unclassified sequence variant; NS, nonsense. bExonic splicing enhancers (ESEs) shared or conserved between human, primates, mouse, cow, dog and opossum. cLose, loss of predicted ESE motif; increase, retain ESE motif with higher score; decrease, retain ESE motif with lower score. dAlter additional other ESE motifs.