PRKACA DNAJB1-PRKACA

这种融合在罕见的青少年肝癌、纤维板层肝癌中经常发生。在一项研究中,15/15的FL-HCC病例观察到融合,功能研究发现融合保留激酶活性。这种融合的存在可作为这种罕见肿瘤类型的诊断标志物。
This fusion has been found to be very recurrent in the rare form of adolescent liver cancer, fibrolamellar hepatocellular carcinoma. In one study, this fusion was observed in 15/15 FL-HCC cases examined and functional studies found that the fusion retained kinase activity. The presence of this fusion may be used as a diagnostic marker for this rare tumor type.

别名


Allele Registry ID:
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
191462895114629232
Transcript
ENST00000254322.2
COORDINATE 2
Chr.StartStopTranscript
191420250014218221ENST00000308677.4

基因序列