Table 3.
Branch point sequences
Gene | Intron | References | Ref BP | Ref Seq | HSF BP | HSF value |
---|---|---|---|---|---|---|
COL5A1 | 32 | (93) | −27 | ENST00000355306 | −27 | 87.81 |
DYSF | 31 | (94) | −33 | ENST00000258104 | −33 | 93.13 |
FBN2 | 30 | (95) | −24 | ENST00000262464 | −24 | 77.06 |
GH1 | 3 | (96) | −21 | ENST00000323322 | −26 | 73.36 |
ITGB4 | 31 | (97) | −17 | ENST00000200181 | −17 | 93.79 |
LCAT | 4 | (98) | −20 | ENST00000264005 | −20 | 95.07 |
LDLR | 9 | (99) | −25 | ENST00000252444 | −25 | 86.59 |
NPC1 | 6 | (100) | −28 | ENST00000269228 | −28 | 77.41 |
PMM2 | 2 | (101) | −25 | ENST00000268261 | −25 | 80.56 |
PMM2 | 7 | (101) | −23 | ENST00000268261 | −23 | 72.27 |
RB1 | 23 | (57) | −26 | ENST00000267163 | −26 | 75.89 |
TH | 11 | (102) | −22 | ENST00000324155 | −22 | 84.96 |
TSC2 | 38 | (103) | −18 | ENST00000219476 | −18 | 67.71 |
XPC | 3 | (76) | −24 | ENST00000285021 | −24 | 82.78 |
For each gene the reference sequence from the Ensembl genome database (Ref Seq), the intron number (Intron) and the position of the BP identified by in vitro experiments (Ref BP) as well as the BP position predicted by HSF (HSF BP) and the corresponding BP value (HSF value) are shown.