HBV VIS Detail Information

> This page shows VIS [1003446] detail information, including site information (chromosome, GRCh38 location, disease, sample, etc) and literature information.

Site Information

DVID	1003446
VISID	TVIS10000424
Chromosome	chr9
GRCh38 Location	114076638
Disease	Hepatocellular carcinoma
Sample	Tumor
Virus Reference Genome	Not given
Target Gene	AMBP

Literature Information

PubMed PMID	25901726
Published year	2015
Journal	PloS one
Title	Identification of HBV-MLL4 Integration and Its Molecular Basis in Chinese Hepatocellular Carcinoma.
Author	Dong H,Zhang L,Qian Z,Zhu X,Zhu G,Chen Y,Xie X,Ye Q,Zang J,Ren Z,Ji Q
Evidence	To gain molecular insights of HBV integration that may contribute to HCC tumorigenesis, we performed whole transcriptome sequencing and whole genome copy number profiling of hepatocellular carcinoma (HCC) samples from 50 Chinese patients. We identified a total of 33 HBV-human integration sites in 16 of 44 HBV-positive HCC tissues, which were enriched in HBV genotype C-infected patients. In addition, significantly recurrent HBV-MLL4 integration (18%; 8/44) was found in this cohort of patients. Using long-range PCR and Sanger sequencing, we comprehensively characterized gDNA and cDNA sequences that encode for the HBV-MLL4 transcripts, and we revealed that HBV integration into MLL4 exons led to much higher mRNA expression of MLL4 than the integration into MLL4 introns due to an alternative splicing mechanism. Moreover, the HBV-MLL4 integration occurred almost exclusively in CTNNB1 and TP53 wild-type patients. The integration was also associated with a distinct gene expression profile. In conclusion, this is the first report on the molecular basis of the MLL4 integration driving MLL4 over-expression. HBV-MLL4 integration occurred frequently in Chinese HCC patients, representing a unique molecular segment for HCC with HBV infection.