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[Preprint]. 2023 Jul 27:2023.07.25.550489. [Version 1] doi: 10.1101/2023.07.25.550489

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Figure 3. — SpliceAI identified variants predicted to affect splicing of genome-wide branaplam-responsive exons. (a) SpliceAI predictions were made for variants within 50 nt of branaplam-responsive exon and pseudoexon splice junctions. (b) Variants near branaplam-responsive pseudoexons (orange) and exons (green) that yield significant SpliceAI scores are plotted by allele frequency with gene names indicated for selected variants. HTT variants rs148430407 (MAF 2.6x10⁻³) and rs772437678 (MAF 9.6x10⁻⁵) are labelled, while rs145498084 did not have a significant SpliceAI score (c) SpliceAI-predicted variants affect splice modulation of TENT2 and ZFP82. Proportion of canonically spliced product across tested LCLs for TENT2 and ZFP82, grouped by no presence (0/0) or heterozygous presence (0/1) of variant. N = Number of cell lines for variant, n = cultures analyzed.