Fig. 2

FMR1 expression in an unmethylated expansion carrier. (a) Schematic of the FMR1 locus, the canonical transcript in grey and stringtie de novo assembled transcripts generated using RNA-seq data from fibroblasts from an FMR1 UFM carrier in blue. (b) Coverage plots of RNA-seq data at the FMR1 gene from fibroblasts obtained from a control individual, an FXS patient and two UFM carriers. Coverage tracks are scaled based on the total number of reads successfully mapped to the genome. Coverage tracks were generated from track collections and show merged tracks from 3 replicates. (c) Detailed comparison of the control and UFM RNA-seq data at intron 1. Showing below a representation of the transcript and potential translation (d) Barplot showing DESeq2 normalised read counts for FMR1 for the control, FXS and UFM cell lines; 1-way ANOVA, Tukey’s multiple comparison test: **** P < 0.0001, *** P < 0.001, ** P < 0.01