Table 2.
Description on the Genes, Protein Encoded, Genetic Alterations, Loci, Frequency of Variant Allele in Tumor Sample in DNA Methyltransferase Family of Genes
| Gene | Protein | Alteration | Loci | % of alteration |
Variant allele frequency in tumor sample | gnomAD frequency data |
|---|---|---|---|---|---|---|
| DNMT1 | DNA methyltrasferase 1 | Gene amplification | 19q13.2 | 2.6 | ||
| E559Q | 0.03 | Novel | ||||
| P1330S | 0.17 | Novel | ||||
| P1325S | 0.2 | Novel | ||||
| E912Q | 0.05 | Novel | ||||
| S1352G | 0.2 | Novel | ||||
| P692S | 0.21 | Novel | ||||
| H370Y | 0.03 | Novel | ||||
| T616M | 0.42 | Novel | ||||
| R325L | 0.09 | Novel | ||||
| X891_splice | 0.05 | Novel | ||||
| P1106H | 0.04 | Novel | ||||
|
TRDMT1
(DNMT2) |
TRNA Aspartic Acid Methyltransferase 1 | Gene amplification | 10p13 | 1.8 | ||
| Deep deletions | ||||||
| A198E | 0.44 | rs200204830 | ||||
| S272* | 0.22 | Novel | ||||
| DNMT3A | DNA methyltrasferase 3 alpha | Gene amplification | 2p23.3 | 2.8 | ||
| E371* | 0.31 | Novel | ||||
| R729Q | 0.52 | rs757211277 | ||||
| E491D | 0.12 | Novel | ||||
| S689C | 0.17 | Novel | ||||
| R556M | 0.16 | Novel | ||||
| R488Q | 0.13 | rs566390868 | ||||
| Q374L | 0.16 | Novel | ||||
| P419L | 0.12 | Novel | ||||
| P106S | 0.08 | Novel | ||||
| G150V | 0.12 | Novel | ||||
| W893R | 0.45 | Novel | ||||
| E907K | 0.14 | rs769590067 | ||||
| R899C | 0.18 | Novel | ||||
| DNMT3B | DNA methyltrasferase 3 beta | Gene amplification | 20q11.21 | 5 | ||
| R576* | 0.14 | Novel | ||||
| K441Efs*11 | 0.41 | Novel | ||||
| C496= | 0.05 | Novel | ||||
| Q328E | 0.26 | Novel | ||||
| E464Q | 0.16 | Novel | ||||
| R840Q | 0.25 | rs121908946 | ||||
| R485L | 0.12 | Novel | ||||
| P845S | 0.22 | Novel | ||||
| H132R | 0.29 | rs770751820 | ||||
| Q196H | 0.42 | Novel | ||||
| DNMT3L | DNA methyltrasferase 3 like | Gene amplification | 21q22.3 | 1.6 | ||
| Deep deletions | ||||||
| R47* | 0.13 | Novel | ||||
| P310S | 0.22 | Novel | ||||
| S325N | 0.21 | Novel |