Fig. 6

Effects of a deletion in HEK293 on gene expression. A Location of rs11191660 within ATP5MK gene. B Four isoforms, ENST00000369825.5, NM_001206426.1, NM_001206427.1, and NM_032747.3, of ATP5MK. Isoform structures are depicted using GSDS 2.0 [23]. C Boxplots displaying gene expressions in the 67 Japanese B cell lines. The expression levels of the entire ATP5MK gene (left) and isoforms are presented by the genotype (GG (n = 28), GA (n = 27), and AA (n = 12)). D Comparison of gene expression levels between HEK293 cells with and without the chr10:103,342,876–103,343,562 deletion. ACTB was used an internal control. The y-axis shows the relative expression of the target variants in cells with the deletion compared to cells with no deletion. A significant difference was observed in the gene expression levels of NM_032747.3 between cells with and without the deletion. Bar graphs show the mean value ± standard error (s.e.). P-values were obtained using the Student’s t-test