Fig. 6: De novo intronic CCG repeat expansion near the CHD3 TSS. | npj Genomic Medicine

Fig. 6: De novo intronic CCG repeat expansion near the CHD3 TSS.

From: Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay

Fig. 6

a Counts of in-CCG-repeat reads anchored to Chr17:7884501-7886140 in CHD3 among Pt481, his parents, and healthy control individuals. b–d T-LRS of the Chr17:7,885,308-7,885,345 CCG repeat at CHD3 in Pt481 and his mother. b Frequency of CCG repeat size in T-LRS reads. Red, forward read; blue, reverse read. c Waterfall plot showing the tri- or di-nucleotide composition of the CCG repeat expansion and flanking sequences in T-LRS reads. Tri- or di-nucleotides were colored as shown in the upper right corner. d DNA methylation status around the predominant CHD3 TSS. Top, GENCODE transcript models; middle, total CAGE counts aggregated from various cells and tissues (https://genome.ucsc.edu/cgi-bin/hgTrackUi?db=hg38&g=fantom5); bottom, T-LRS reads with (“exp.”) or without (“no-exp.”) CCG repeat expansion. Horizontal line: T-LRS read; black circle: methylated CpG; white circle: unmethylated CpG.

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