Fig. 7: Neurodevelopmental de novo mutation within brain-specific histone modification correlated to surrounding gene expression.

An intergenic G-to-T de novo mutation (DNM; hg38, chr16:72427838) is shown for a patient with a neurodevelopmental phenotype. Tracks are shown demonstrating additional human embryonic non-coding transcription (enriched in human embryonic brain), the three epigenomic marks, ENCODE data26 and conservation amongst vertebrates. The DNM overlaps a brain-specific (dark blue) H3K27ac and small H3K4me3 mark. The highest correlations are shown, notably to the promotors of ZNF821 (r = 0.92) (dark blue) with anticorrelation (r = −0.65, red) to the adjacent gene, ATXN1L.