chr17-78176141-G-A (TK1)
| Sample count |
10 |
| SJ key |
chr17:78175619-78176142 |
| Motif type |
Donor |
| Predicted splicing type |
Cryptic exon inclusion |
| Inframe |
Frameshift |
| PTC generation |
PTC |
| NMD sensitivity |
TRUE |
| Protein change |
F102Vfs*18 |
| Protein change (no splicing) |
NA |
| Exon number |
4/7 |
| gnomAD AF |
0.00157746 |
| Gencode ID |
ENST00000301634.12 |
| MANE |
MANE_Select |
| Primary SS pos |
78176142 |
| Matching SS pos |
78175619 |
| Hijacked SS pos |
78182588 |
| Secondary SS pos |
78176217 |
| Distance from hijacked SS |
6446 |
| SJ location |
Coding |
| MaxEntScore Ref |
0.11 |
| MaxEntScore Alt |
7.87 |
| MaxEntScore Diff |
7.76 |
| ClinVar ID |
NA |
| ClinVar Sig |
NA |
| Alu start pos |
NA |
| Alu end pos |
NA |
| Alu strand |
NA |
| Alu repName |
NA |
| Alu direction |
NA |
| Juncmut primary SS in Alu |
NA |
| Juncmut secondary SS in Alu |
NA |
| Mutation pos in Alu |
NA |
Sources
| Project ID |
Run ID |
Realign no SJ neg |
Realign no SJ pos |
Realign target SJ neg |
Reaglin target SJ pos |
Realign normal SJ neg |
Realign normal SJ pos |
| SRP047358 |
SRR1582513 |
13 |
4 |
7 |
0 |
0 |
0 |
| SRP047399 |
SRR1583592 |
13 |
4 |
7 |
0 |
0 |
0 |
| SRP157974 |
SRR8518204 |
6 |
4 |
3 |
0 |
0 |
0 |
| SRP157974 |
SRR8518208 |
0 |
1 |
3 |
0 |
0 |
0 |
| SRP186649 |
SRR8612635 |
9 |
3 |
3 |
0 |
0 |
0 |
| SRP258618 |
SRR11612877 |
5 |
2 |
5 |
0 |
0 |
0 |
| SRP278557 |
SRR12506225 |
4 |
2 |
4 |
0 |
0 |
0 |
| SRP286177 |
SRR12764602 |
0 |
16 |
4 |
0 |
0 |
0 |
| SRP301205 |
SRR13400959 |
0 |
8 |
3 |
0 |
0 |
0 |
| SRP396591 |
SRR21523134 |
1 |
5 |
7 |
0 |
0 |
0 |