| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
|
| --over
|
|
|
DNMT3B isoform 4 is overexpressed in hepatocellular carcinoma (hypomethylation) |
| tumoral
|
|
|
| gain of function
|
|
in leukemia |
| tumoral
|
|
|
|
|
|
DeltaDNMT3B is the major expression form of DNMT3B in NSCLC |
| tumoral
|
|
| --over
|
|
overexpression was identified as an independent prognostic factor for predicting shortened survival of patients with diffuse large B-cell lymphomas  |
| tumoral
|
| amplification
|
|
|
|
in pancreatic and breast cancer, and is associated with increased resistance to the growth-inhibitory effect mediated by DNA demethylating agents |
| constitutional
| germinal mutation
|
|
|
|
|
heterozygous DNMT3B mutations, only when combined with smaller D4Z4 repeat arrays, can derepress DUX4 in somatic cells and cause FSHMD1a or FSHD2 |
| constitutional
|
|
|
| loss of function
|
|
disruption of DNMT3A or DNMT3B individually as well as of both enzymes in tandem results in viable, pluripotent cell lines with distinct effects on the DNA methylation landscape |
