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. 2023 Jun 19;51(14):7269–7287. doi: 10.1093/nar/gkad523

Figure 2.

Figure 2.

Expression profiling in fibroblasts and iPSCs from patients affected with BAMS or FSHD2. (A) Schematic representation of the SMCHD1 protein with position of the different mutations in BAMS (cyan) or FSHD2 (red) patients. (B) Venn diagrams for comparison of genes that are differentially expressed in FSHD2 and BAMS primary fibroblasts compared to controls with −2 > FC > 2 and FDR < 0.05. (C) GO for BPs corresponding to enrichment analysis of DEGs in FSHD2 (red, upper panel) or BAMS (cyan, lower panel) versus control fibroblasts filtered on −2 > FC > 2 and FDR < 0.05. Bar plots on the left represent the percentage of genes that are differentially expressed and associated with a GO term shown in the right column. Light gray bars on the right represent the enrichment score (log10FDR) for each BP. (D) Venn diagrams for comparison of DEGs in FSHD2 and BAMS hiPSCs compared to controls. (E) Venn diagrams for comparison of DEGs between FSHD2 fibroblasts and hiPSCs. (F) Venn diagrams for comparison of DEGs between BAMS fibroblasts and hiPSCs. (G) GO for BPs corresponding to enrichment analysis of DEGs in FSHD2 (red, upper panel) or BAMS (cyan, lower panel) versus control hiPSCs filtered on −2 > FC > 2 and FDR < 0.05. Bar plots on the left represent the percentage of DEGs and associated with GO terms in the right column. Light gray bars on the right represent the enrichment score (log10FDR) for each GO term.