Fig. 7
Differential expression analysis and correlation between gene expression and epigenetic profiles. a KEGG pathway analysis for genes differentially expressed between 22q11.2del (n = 5) and control (n = 9) cell lines. Shown are pathways with modified Fisher’s exact test p value < 9.05e−04. b Enrichment analysis for chromosome 22q for differentially expressed genes. Red dashed lines mark the boundaries of 22q11.2del region. c Differentially expressed genes correlated with different H3K27ac and H3K27me3 signal strengths in 22q11.2del versus control cell lines. A1 represents genes significantly upregulated in 22q11.2del cell lines while B1 represents non-significantly upregulated genes; A2 represents genes significantly downregulated in 22q11.2del cell lines while B2 represents non-significantly downregulated genes. The y axis shows the Z-score transformed fold change of H3K27ac signals (left) or H3K27me3 signals (right) between 22q11.2del (n = 5) and control (n = 4) cell lines. d Differential H3K27ac and H3K27me3 signal strengths exhibited correlation with differential gene expression between 22q11.2del and control cell lines. A1 represents genes whose TSSs were significantly more marked by H3K27ac (left) or by H3K27me3 (right) in 22q11.2del cell lines. B1 represents genes with TSSs non-significantly more marked by H3K27ac (left) or by H3K27me3 (right). A2 represents genes whose TSSs were significantly less marked by H3K27ac (left) or by H3K27me3 (right) in 22q11.2del cell lines. B2 represents genes with TSSs non-significantly less marked by H3K27ac (left) or by H3K27me3 (right). The y axis shows the Z-score transformed fold change of genes’ FPKM in 22q11.2del (n = 5) versus control (n = 9) cell lines. In c, d, box represents quartiles, centre line denotes 50th percentile, and whiskers extend to the most extreme data points within 1.5 times of the interquartile range
