Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
| germinal mutation
|  
|  
| gain of function
|
mutation gain of function in ADULT syndrome |
tumoral
|  
|  
|  
| loss of function
|
in squamous cell carcinoma |
tumoral
| somatic mutation
|  
|  
|  
|
in B cell lymphoma |
constitutional
| germinal mutation
|  
|  
|  
|
in Hay-Wells syndrome |
constitutional
|  
|  
| --other
|  
|
dysregulated in psoriasis |
tumoral
|  
|  
| --low
|  
|
in cancer showed an increased invasive ability |
tumoral
|  
|  
| --over
|  
|
in 80 p100 of head and neck squamous cell carcinomas (HNSCC) |
tumoral
|  
|  
| --over
|  
|
in two TP53-deficient human cancer cell lines, leading to cell cycle arrest and attenuating doxorubicin-induced DNA damage |
tumoral
|  
|  
| --low
|  
|
in TP53-expressing cancer cells, possibly due to their similar biological functions |
tumoral
| fusion
|  
|  
|  
|
fusion between TBL1XR1 and TP63,in diffuse large B-cell lymphoma (DLBCL) |
tumoral
|  
| amplification
|  
|  
|
in early stage of esophageal squamous cell carcinoma (EC-SCC) carcinogenesis but down-regulated in advanced stage of disease |