Extended Data Fig. 6: Principal component analysis using PSI values of significant splicing events detected using rMATS. | Nature Genetics

Extended Data Fig. 6: Principal component analysis using PSI values of significant splicing events detected using rMATS.

From: Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Extended Data Fig. 6: Principal component analysis using PSI values of significant splicing events detected using rMATS.

a–d, PCA of splicing events other than those altering the 5′SS in patients with RNU4-2 variants. PCA was performed using PSI values of significant calls (FDR < 0.1) with a |deltaPSI| >0.05 for exon skipping (a, n = 121), alternative 3′ splice sites (b, n = 35, 3′SS), intronic retention (c, n = 100), or mutually exclusive exons (d, n = 126). Purple, controls; teal, RNU4-2 n.64_65insT; yellow, other variants. e, PCA showing the RNU4-2 5′SS signature (111 events) applied to U5 variants. RNU5B-1 (n = 4) and RNU5A-1 (n = 2) variants cluster with controls, indicating that they do not share the 5′SS signature of RNU4-2. Purple, controls; green, RNU4-2 variants; blue, RNU5B-1 variants; pink, RNU5A-1 variants.

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