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. 2020 Apr 24;11:2020. doi: 10.1038/s41467-020-15951-0

Fig. 3. Frequently mutated regulatory elements (FMREs) in OC.

Fig. 3

a QQ-plot that shows the expected (x-axis) and observed (y-axis) significance values of the mutational burden for all active REs in HGSOC. b Manhattan plot that shows the genomic location (x-axis) and significance value (y-axis) of the mutational burden for all active REs in HGSOC. c Heatmap that shows the mutational burden (P-value) of the 25 FMREs across CCOC, EnOC, and HGSOC; asterisks represent FDR ≤ 10%. d Volcano plot that shows the fold change of median gene expression (x-axis) and the significance value (y-axis) of the putative target gene of samples with overlapping single nucleotide variants in an active RE vs. wild-type samples. The histogram on top of the scatterplot shows more overexpression events (−log2(FC) > 0) in the presence of single nucleotide variants than under expression events (−log2(FC) < 0). e The KLF6 locus, location of SNVs, SE, and PAX8-binding sites. f The 6p22.1 mutated enhancer, location of SNVs, TEAD4-binding sites and motif logo relative shows position of the recurrent mutation g Spearman’s rho correlation between the activity of a FMRE (6p22.1 enhancer) and nearby genes. h and i Single-cell-derived clones after CRISPR/Cas9-mediated deletion in the SHIN3 HGSOC cell line. h Gel electrophoresis showing the genotype of the 16 clones (3 OR1C1 control knockouts (KO), 4 wild type (WT), 6 partial KO (PKO), and 3 complete KO (CKO)). i Relative expression of ZSCAN16, ZSCAN12, HIST1H2AI, and ZSCAN31 in the 16 clones. j Fold change and P-value of the enrichment of HGSOC somatic SNVs in active TF-binding sites using publicly available MCF-7 TF ChIP-seq data.