Relationship of E2-ESR1 to AML driver genes
| Point mutations | ||||||
|---|---|---|---|---|---|---|
| Genes | Chromo | Substitution | Indel <200 bp | Total | E2-ESR1 regulation | References |
| FLT3 | 13 | 222 | 339 | 561 | E2-ESR1 upregulates FLT3 | (57) |
| NPM1 | 5 | 0 | 432 | 432 | E2-ESR1 upregulates NPM1 | (58) |
| DNMT3Aa | 2 | 346 | 29 | 375 | — | |
| NRAS | 1 | 289 | 0 | 289 | E2-ESR1 upregulates NRAS | (4) |
| TET2 | 4 | 121 | 81 | 202 | — | |
| IDH2 | 15 | 150 | 0 | 150 | — | |
| RUNX1 | 21 | 78 | 70 | 148 | RUNX1 is ESR1 corepressor | (38) |
| CEBPA | 19 | 27 | 103 | 130 | — | |
| PTPN11 (SHP2) | 12 | 129 | 0 | 129 | E2-ESR1 upregulates SHP2 | (59) |
| TP53 | 17 | 103 | 6 | 109 | Cross-talk | (18) |
| IDH1 | 2 | 104 | 0 | 104 | — | |
| SRSF2 | 17 | 69 | 22 | 91 | — | |
| WT1 | 11 | 56 | 24 | 80 | WT1 binds to ESR1 | (60) |
| KRAS | 12 | 79 | 0 | 79 | E2-ESR1 downregulates KRAS | (53) |
| MLL (KMT2A) | 11 | 1 | 76 | 77 | — | |
| ASXL1 | 20 | 36 | 34 | 70 | ESR1-ASXL1 binding | (49) |
| KIT | 4 | 69 | 0 | 69 | — | |
| STAG2 | 23 | 43 | 24 | 67 | — | |
| RAD21 | 8 | 31 | 23 | 54 | — | |
| EZH2 | 7 | 41 | 6 | 47 | E2-ESR1 upregulates EZH2 | (61) |
| PHF6 | 23 | 36 | 10 | 46 | — | |
| CBL | 11 | 42 | 0 | 42 | — | |
| NF1 | 17 | 19 | 21 | 40 | — | |
| SF3B1 | 2 | 39 | 0 | 39 | — | |
| U2AF1 | 21 | 37 | 0 | 37 | — | |
| GATA2 | 3 | 37 | 0 | 37 | — | |
| BCOR | 23 | 17 | 18 | 35 | — | |
| MYC | 8 | 28 | 0 | 28 | E2-ESR1 upregulates MYC | (4) |
| EP300 | 22 | 19 | 4 | 23 | EP300 is ESR1 coactivator | (62) |
| ETV6 | 12 | 12 | 10 | 22 | — | |
| KDM5A | 12 | 12 | 1 | 13 | — | |
| MLL2 (KMT2D) | 12 | 10 | 3 | 13 | MLL2 is ESR1 coactivator | (35) |
| ZRSR2 | 23 | 8 | 5 | 13 | — | |
| KDM6A | 23 | 11 | 1 | 12 | — | |
| MLL3 (KMT2C) | 7 | 5 | 5 | 10 | MLL3 is ESR1 coactivator | (22) |
| JAK2 | 9 | 10 | 0 | 10 | E2-ESR1 upregulates JAK2 | (63) |
| FBXW7 | 4 | 9 | 0 | 9 | — | |
| BRAF | 7 | 9 | 0 | 9 | — | |
| CREBBP | 16 | 9 | 0 | 9 | CREBBP is ESR1 coactivator | (36) |
| ATRX | 23 | 6 | 0 | 6 | — | |
| CUX1 | 7 | 3 | 2 | 5 | — | |
| RB1 | 13 | 5 | 0 | 5 | RB1 controls ESR1 activity | (25) |
| MPL | 1 | 3 | 0 | 3 | — | |
| MLL5 (KMT2E) | 7 | 2 | 1 | 3 | — | |
| PTEN | 10 | 3 | 0 | 3 | E2-ESR1 downregulates PTEN | (24) |
| PRPF40B | 12 | 3 | 0 | 3 | — | |
| CDKN2A | 9 | 2 | 0 | 2 | — | |
| SF1 | 11 | 2 | 0 | 2 | — | |
| U2AF2 | 19 | 2 | 0 | 2 | — | |
| GNAS | 20 | 2 | 0 | 2 | — | |
| CBLB | 3 | 1 | 0 | 1 | E2-ESR1 downregulates CBLB | (5) |
| IKZF1 | 7 | 1 | 0 | 1 | — | |
| SH2B3 | 12 | 1 | 0 | 1 | — | |
| SF3A1 | 22 | 1 | 0 | 1 | — | |
| 2400 | 1350 | 3833 | ||||
↵aDriver genes listed in bold are shared with breast cancer.