Extended Data Fig. 7: The variant effect depends on the reference isoform proportion. | Nature Genetics

Extended Data Fig. 7: The variant effect depends on the reference isoform proportion.

From: Aberrant splicing prediction across human tissues

Extended Data Fig. 7

a, Ψ against Δlogit(Ψ) showing the non-linear splicing scaling law. The mutation effect of a variant can lead to different changes in Ψ in natural scale, depending on the reference splicing level of the intron. For example, the same variant can lead to a large change in Ψ if Ψref is initially at an intermediate level and almost no change if Ψref is initially at an extreme value (here low). b, Distribution of Ψref in SpliceMap. Most of the introns are not alternatively spliced, so the reference level of those introns is either 0 or 1. c, Cumulative distribution function of the maximum difference of Ψref (defined as: max(Ψref) - min(Ψref)) across tissues per intron. d, Heatmap of the Ψref of the most variable introns (defined as: max(Ψref) - min(Ψref) > 0.3) across tissues.

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