Fig. 4
From: Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
EBF3 is the gene target of hs737. A Schematic of hs737 and target genes. Gray boxes represent promoters and colored boxes represent gene bodies and red box represents hs737. Hi-C contact map generated using data from Won et al. [49] visualized with Juicebox [48] at 25 kbp. Heatmaps are symmetrical across the diagonal, except that HiCCUPS loop calls are shown as black boxes in the upper right half of each heatmap. B Hi-C contact maps from Bonev et al. [47] visualized with Juicebox [48] at 5-kbp resolution. C EBF3 protein diagram (plotted using the DOG protein plotter [67]) with DNVs identified in NDDs. Shown in blue are the missense variants and in red are the loss-of-function variants. D 3D model (plotted using the MuPIT program [68, 69]) of the EBF3 protein with DNVs identified in individuals with NDDs shown in green. E Genes with promoters bound by EBF3 based on ChIP sequencing in SK-N-SH cells. Enrichment is seen for the promoters of known NDD genesets