| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
| amplification
|
|
|
|
and overexpressed in esophageal squamous cell carcinoma |
| tumoral
|
|
|
| gain of function
|
protect against the development of hepatocellular carcinoma  |
| constitutional
| germinal mutation
|
|
|
|
|
digenic germline variants in both TYMS and ENOSF1 can generate disease features of dyskeratosis congenita |
| tumoral
|
|
|
| gain of function
|
|
in pancreatic cancer and associated with poor overall survival (OS) and recurrence-free survival (RFS) |
| tumoral
|
|
| --over
|
|
|
in Retroperitoneal liposarcoma (RLPS) |
| constitutional
|
|
| --other
|
|
|
affected the balance between proliferation and apoptosis in neuroepithelial cells, which might shed some lights on the mechanisms involved in neural tube defects (NTDs) |
