Fig. 4
From: A new integrated genetic and transcriptomic approach for investigating DUX4 and DUX4C
Novel DUX4C isoforms, expression patterns of DUX4C and DUX4T, and functional analysis of DUX4C. a Novel isoforms DUX4C-v1 and DUX4C-v2 compared with previously published DUX4C and DUX4L9 transcripts. The CAGE-seq peak indicating the transcription start site is shown as a green triangle. b Domain architecture of DUX4C isoforms. HD1 and HD2 are shown in blue, and the IDR is shown in pink. Expression of DUX4C and DUX4T in different sample contexts: c breast tumor (43 cases and 43 controls), d FSHD patients (15 cases and 15 controls), and e IFNα2-stimulated LCLs (20 stimulated and 20 non-stimulated). Statistical significance was assessed using the Mann–Whitney U test (p < 0.05). f Haplotype frequency for DUX4C and DUX4T in the Japanese population. g, h GO enrichment analysis of DEGs between IFNα2-stimulated LCLs expressing DUX4C (genotype: DUX4C 4qα/4qα; DUX4T 4qB/4qB, n = 3) and those lacking DUX4C expression (genotype: DUX4C: 4qβ/4qβ; DUX4T: 4qA/4qA, n = 3). Biological Process (BP) of (g) cnetplot: gray nodes represent DEGs, orange nodes represent pathways, and orange node size reflects the number of associated DEGs. h Barplot: bars indicate enriched GO terms, color represents p-value, and length indicates the number of enriched DEGs
