Annotation Detail
Information
- Associated Genes
- TP53
- Associated Variants
-
RB1 p.Glu137Ter (p.E137*)
(
ENST00000267163.6,
ENST00000713856.1,
ENST00000713857.1,
ENST00000650461.1,
ENST00000713858.1 )
TP53 p.Arg273Leu (p.R273L) ( ENST00000604348.6, ENST00000504937.5, ENST00000576024.2, ENST00000510385.5, ENST00000620739.4, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1, ENST00000455263.6, ENST00000504290.5, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4 )
TP53 p.Arg273His (p.R273H) ( ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000714357.1, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000714359.1, ENST00000610292.4, ENST00000610538.4, ENST00000714409.1, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000714408.1, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1 )
TP53 p.Arg273Cys (p.R273C) ( ENST00000576024.2, ENST00000510385.5, ENST00000504937.5, ENST00000604348.6, ENST00000269305.9, ENST00000359597.8, ENST00000420246.6, ENST00000445888.6, ENST00000413465.6, ENST00000455263.6, ENST00000504290.5, 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 )
TP53 p.Arg273Ser (p.R273S) ( ENST00000420246.6, ENST00000445888.6, ENST00000504937.5, ENST00000604348.6, ENST00000455263.6, ENST00000510385.5, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000504290.5, ENST00000576024.2, ENST00000714356.1, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
TP53 p.Tyr163Cys (p.Y163C) ( ENST00000604348.6, ENST00000504937.5, ENST00000576024.2, ENST00000510385.5, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, 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 )
RB1 p.Glu137Ter (p.E137*) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 )
TP53 p.Arg273Leu (p.R273L) ( ENST00000445888.6, ENST00000455263.6, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4 )
TP53 p.Arg273His (p.R273H) ( ENST00000445888.6, ENST00000455263.6, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, 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 )
TP53 p.Arg273Cys (p.R273C) ( ENST00000269305.9, ENST00000359597.8, 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 )
TP53 p.Arg273Ser (p.R273S) ( ENST00000576024.2, ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, 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 )
TP53 p.Tyr163Cys (p.Y163C) ( ENST00000622645.4, ENST00000269305.9, ENST00000359597.8, 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, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 ) - Associated Disease
- osteosarcoma
- Source Database
- DisGeNET
- Description
- Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]).
- Pubmed
- 22006429
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.382163696009582
- Year of publication
- 2012
Drugs