Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
TP53 p.Met133Thr (p.M133T)
(
ENST00000604348.6,
ENST00000610623.4,
ENST00000618944.4,
ENST00000610292.4,
ENST00000269305.9,
ENST00000359597.8,
ENST00000413465.6,
ENST00000420246.6,
ENST00000445888.6,
ENST00000455263.6,
ENST00000504290.5,
ENST00000504937.5,
ENST00000510385.5,
ENST00000576024.2,
ENST00000610538.4,
ENST00000619186.4,
ENST00000619485.4,
ENST00000620739.4,
ENST00000622645.4,
ENST00000714356.1,
ENST00000714357.1,
ENST00000714359.1,
ENST00000714408.1,
ENST00000714409.1 )
TP53 p.Met133Thr (p.M133T) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000504290.5, ENST00000455263.6, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 ) - Associated Disease
- Acute Erythroblastic Leukemia
- Source Database
- DisGeNET
- Description
- In conclusion, persistently active STAT5 can recruit normal p53, like in the case of MPN cells, but also p53 mutants, such as p53 M133K in human erythroleukemia cells, leading to pathologic gene expression that differs from canonical STAT5 or p53 transcriptional programs.
- Pubmed
- 24681953
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0054387689632702
- Year of publication
- 2014
Drugs