PAX8 PAX8-PPARG

pax8-ppar gamma是一种癌基因,由2q13和3p25之间的易位引起,导致两个基因之间的帧内融合。在滤泡性甲状腺癌(FTC)中观察到它,它是FTC中两种已知的PPARγ融合产物之一,表明该区域可能是一个断点热点。研究表明,融合产物可提高细胞活力和增殖,减少细胞凋亡。
PAX8-PPAR gamma is a oncogene caused by a translocation between 2q13 and 3p25 resulting in an in-frame fusion between the two genes. It has been observed in Follicular Thyroid Cancer (FTC) and is one of two known fusion products involving PPAR gamma in FTC indicating this region may be a breakpoint hotspot. Studies have indicated that the fusion product increases cell viability and proliferation and decreases apoptosis.

别名

T(2;3)(Q13;P25)
Allele Registry ID:
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
2114036521113992971
Transcript
ENST00000429538.3
COORDINATE 2
Chr.StartStopTranscript
31232940012475810ENST00000397015.2

基因序列