Table 1 Summary of core promoter mutations identified in bladder cancer
From: Core promoter mutation contributes to abnormal gene expression in bladder cancer
Items | Core promoter variants | |
|---|---|---|
Somatic | Germline | |
A. General features | ||
 Total | 216 | 88 |
 Average number of mutation/case | 3 | 1 |
 Distinct | 69 | 28 |
 Co-promoter with variants | 61 | 20 |
 Gene affected | 62 | 21 |
 Absent in COSMIC database | 63 | 28 |
 Novel | 37 | 15 |
 Non-repetitive | 61 | 19 |
 Repetitive | 8 | 9 |
B. Type | ||
 Total | 69 | 28 |
 Substitution | 45 | 18 |
 Insertion | 10 | 3 |
 Deletion | 14 | 7 |
C. Mutation located in core promoter motifs | ||
 Totala | 86 | 21 |
 MTE_box2 | 23 | 3 |
 DPE | 10 | 4 |
 Inr | 9 | 2 |
 Ets | 9 | – |
 DTIE | 6 | 1 |
 TCT | 4 | 1 |
 BREu | 3 | – |
 TATA box | 2 | 1 |