Table 1.
Top 40 genes with recurrent ASE in an AML cohort of 209 patients
| Gene | No. of patients* | Evaluated cases† | Samples, %‡ | COSMIC§ | Myeloid differentiation§ |
|---|---|---|---|---|---|
| GATA2 | 66 | 178 | 37 | Yes | Yes |
| THBS1 | 36 | 124 | 29 | No | Yes |
| MYH11 | 20 | 199 | 10 | Yes | No |
| CA2 | 13 | 126 | 10 | No | Yes |
| MECOM | 13 | 186 | 7 | Yes | No |
| SH3PXD2A | 13 | 195 | 7 | No | Yes |
| CDKN2A | 11 | 102 | 11 | Yes | No |
| JAG1 | 11 | 201 | 5 | No | Yes |
| L3MBTL3 | 11 | 156 | 7 | No | Yes |
| TRIM58 | 11 | 183 | 6 | No | Yes |
| CIB1 | 10 | 160 | 6 | No | Yes |
| FLT3 | 10 | 175 | 6 | Yes | No |
| HIP1 | 9 | 198 | 5 | Yes | No |
| PDE4DIP | 9 | 198 | 5 | Yes | No |
| HSP90AB1 | 8 | 147 | 5 | Yes | No |
| L3MBTL1 | 8 | 155 | 5 | No | Yes |
| MGMT | 8 | 150 | 5 | Yes | No |
| RUNX1 | 7 | 188 | 4 | Yes | Yes |
| USP6 | 7 | 149 | 5 | Yes | No |
| CD101 | 6 | 174 | 3 | No | Yes |
| FAT1 | 6 | 202 | 3 | Yes | No |
| IRF8 | 6 | 165 | 4 | No | Yes |
| MEIS1 | 6 | 156 | 4 | No | Yes |
| NPM1 | 6 | 134 | 4 | Yes | No |
| ABL1 | 5 | 153 | 3 | Yes | No |
| CIITA | 5 | 196 | 3 | Yes | No |
| DNMT3A | 5 | 188 | 3 | Yes | No |
| FAM20C | 5 | 184 | 3 | No | Yes |
| LTF | 5 | 188 | 3 | No | Yes |
| MYB | 5 | 161 | 3 | Yes | No |
| PML | 5 | 181 | 3 | Yes | Yes |
| PRDM2 | 5 | 151 | 3 | Yes | No |
| RMI2 | 5 | 148 | 3 | Yes | No |
| RPN1 | 5 | 159 | 3 | Yes | No |
| ZFHX3 | 5 | 201 | 2 | Yes | No |
| AKT1 | 4 | 178 | 2 | Yes | No |
| BAX | 4 | 110 | 4 | Yes | No |
| BRCA1 | 4 | 170 | 2 | Yes | No |
| KMT2C | 4 | 162 | 2 | Yes | Yes |
| KNSTRN | 4 | 158 | 3 | Yes | No |
*
No. of patients presenting with ASE for that gene.
†
No. of patients with SNVs that could be evaluated in that gene.
‡
Determined by dividing no. of patients by no. of evaluated cases.
§
Indicates whether the gene is found in COSMIC database or is involved in myeloid differentiation (Gene Ontology database: 0030099). Note that reportedly imprinted genes (according to GeneImprint) were filtered out.