Table 2. The AKT1 methylation, expression and TFBS status of patients with promoter somatic mutations.
| Mutation Position (hg19) | Sample ID | Subtype | Mutant allele fraction (%) | Expression (dCt) | Methylation (%) | RefSeq_TF | Loss of TFBS | Gain of TFBS | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Tumor | Normal | Tumor | Normal | |||||||
| chr14:g. 105262255G/A | S32_4 | Luminal A | 57 | 4.07 | 2.93 | 7.97 | 6.89 | . | . | |
| chr14:g. 105262441G/A | S8_3 | Luminal B | 16.87 | -0.85 | 3.59 | 9.32 | 11.76 | EGR1; KLF5; NR2C2; RREB1; SP1; SP2 | RREB1 | . |
| chr14:g. 105262373C/T | S1_4 | Luminal B | 13.6 | 4.05 | 4.27 | 6.82 | 7.21 | . | . | |
| chr14:g. 105262491G/A | S16_2 | Luminal B | 12.75 | 4.81 | 4.00 | 8.64 | 7.70 | EGR1; PAX5; PLAG1 | PLAG1 | ZNF263 |
| chr14:g. 105262266T/C | S14_3 | Luminal B | 12.62 | 4.60 | 4.10 | 5.02 | 7.15 | . | . | . |
| chr14:g. 105262526A/G | S2_4 | HER2 | 12.44 | 3.00 | 3.66 | 7.93 | 8.18 | . | . | HNF4A |
| chr14:g. 105262534T/G | S23_2 | Luminal B | 11.79 | 4.93 | 5.52 | 7.09 | 6.45 | . |
PLAG1; NR1H2; RXRA |
|
| chr14:g. 105262639C/T | S13_3 | Luminal B | 9.66 | 2.85 | 4.12 | 4.04 | 7.45 | REST; THAP1 | REST; THAP1 | . |
| chr14:g. 105262522C/T | S2_4 | HER2 | 8.52 | 3.00 | 3.66 | 7.93 | 8.18 | . | . | . |
| chr14:g. 105262269C/T | S10_3 | Luminal B | 8.32 | 2.11 | 3.91 | 8.14 | 7.00 | . | . | HOXA5; TLX1; NFIC |
| chr14:g. 105262286C/T | S10_3 | Luminal B | 8.09 | 2.11 | 3.91 | 8.14 | 7.00 | . | . | . |
| chr14:g. 105262333T/C | S23_2 | Luminal B | 7.79 | 4.93 | 5.52 | 7.09 | 6.45 | . | . | . |
| chr14:g. 105262931C/T | S6_4 | Luminal B | 7.59 | 3.89 | 3.52 | 9.38 | 8.95 | SMAD2; SMAD3; SMAD4 | SMAD2; SMAD3; SMAD4 | . |
| chr14:g. 105262991C/T | S8_2 | Luminal A | 7.5 | 3.23 | 3.19 | 6.15 | 8.65 | PLAG1 | PLAG1 | . |
| chr14:g. 105262531T/C | S42_4 | Luminal A | 6.86 | 2.55 | 4.00 | 6.59 | 11.18 | . | . | . |
| chr14:g. 105262293G/A | S34_4 | Luminal B | 6.69 | 4.46 | 3.34 | 4.97 | 8.14 | . | . | RREB1 |
| chr14:g. 105262937C/T | S38_4 | Basal-like | 6.45 | 2.06 | 3.88 | 9.80 | 8.06 | INSM1 | INSM1 | EWSR1-FLI1 |
| chr14:g. 105262848A/G | S2_4 | HER2 | 6.30 | 3.00 | 3.66 | 7.93 | 8.18 | CTCF | . | . |
| chr14:g. 105262438C/A | S45_4 | Luminal A | 6.29 | 4.53 | 3.41 | 9.53 | 6.43 | EGR1; KLF5; NR2C2; RREB1; SP1; SP2 | NR2C2 | E2F4; MZF1_5–13 |
| chr14:g. 105262295C/T | S21_4 | Luminal B | 6.28 | 4.40 | 4.56 | 7.50 | 6.65 | . | . | . |
| chr14:g. 105262829C/A | S10_2 | HER2 | 6.25 | 4.32 | 5.14 | 8.63 | 5.68 | HNF4A; HNF4G | HNF4G | . |
| chr14:g. 105262338A/G | S26_4 | Luminal B | 6.18 | 4.38 | 3.69 | 6.72 | 8.34 | . | . | . |
| chr14:g. 105262863C/A | S2_4 | HER2 | 6.09 | 3.00 | 3.66 | 7.93 | 8.18 | BATF; JUN; JUN (var.2) | JUN (var.2) | |
| chr14:g. 105262419T/C | S35_4 | Luminal B | 5.64 | 3.22 | 4.83 | 10.60 | 7.85 | EGR1 | . | SP2 |
| chr14:g. 105262542G/A | S37_4 | Basal-like | 5.52 | 2.98 | 4.31 | 11.37 | 7.17 | EBF1; ZNF263 | EBF1 | . |
| chr14:g. 105262975C/T | S31_4 | Basal-like | 5.47 | 6.19 | 4.68 | 9.75 | 8.62 | EGR1; KLF5; SP1; SP2 | SP1; KLF5; SP2; EGR1 | . |
| chr14:g. 105262503G/A | S27_4 | Luminal A | 5.46 | 3.67 | 3.91 | 5.35 | 10.23 | PAX5 | . | . |
| chr14:g. 105262690G/A | S17_3 | Luminal B | 5.42 | 5.78 | 3.66 | 7.64 | 10.35 | ZNF263 | . | . |