Annotation Detail
Information
- Associated Genes
- MMP9
- Associated Variants
-
TP53 p.Arg175Leu (p.R175L)
(
ENST00000576024.2,
ENST00000445888.6,
ENST00000510385.5,
ENST00000504290.5,
ENST00000504937.5,
ENST00000604348.6,
ENST00000269305.9,
ENST00000359597.8,
ENST00000413465.6,
ENST00000420246.6,
ENST00000620739.4,
ENST00000622645.4,
ENST00000455263.6,
ENST00000714356.1,
ENST00000610292.4,
ENST00000610538.4,
ENST00000610623.4,
ENST00000618944.4,
ENST00000619186.4,
ENST00000619485.4,
ENST00000714357.1,
ENST00000714359.1,
ENST00000714408.1,
ENST00000714409.1 )
TP53 p.Arg175His (p.R175H) ( ENST00000510385.5, ENST00000504937.5, ENST00000604348.6, ENST00000576024.2, ENST00000445888.6, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000455263.6, ENST00000420246.6, ENST00000504290.5, ENST00000714357.1, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Arg175Leu (p.R175L) ( ENST00000619485.4, ENST00000620739.4, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Arg175His (p.R175H) ( ENST00000359597.8, ENST00000269305.9, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, 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
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- Since the p53 tumor suppressor pathway is inactivated in most human cancers due to gene mutations or defective wt p53 signaling, we now investigated in human wt p53 breast carcinoma MCF-7 cells, whether single treatment with the p53 transactivation pharmacological inhibitor pifithrin-alpha, transient p53 siRNA interference or stable insertion of a dominant-negative (DN) R175H p53 mutant increase: (i) EGFR/erbB1 activation, (ii) MMP-9 expression and (iii) loss of surface E-cadherin.
- Pubmed
- 19507255
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0382409663549203
- Year of publication
- 2009
Drugs