Extended Data Fig. 8: Splicing analysis of 5′SS and 3′SS events in patients with RNU5A-1 variants. | Nature Genetics

Extended Data Fig. 8: Splicing analysis of 5′SS and 3′SS events in patients with RNU5A-1 variants.

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

Extended Data Fig. 8: Splicing analysis of 5′SS and 3′SS events in patients with RNU5A-1 variants.

a–d, Significant alternative 5′SS and 3′SS events (FDR < 0.1) were called for variants n.39del (n = 1) and n.40_41insA (n = 1) independently against 21 controls using rMATS. PCAs were performed using PSI values of these calls with additional 20 controls, 19 RNU4-2 and other U5 variants, including n.39C>G and n.44A>G in RNU5B-1. PCAs were performed using PSI values of 21 5′SS events for n.39del (a), 70 3′SS events for n.39del (b), 229 5′SS events for n.40_41insA (c) and 202 3′SS events for n.40_41insA (d). Purple, controls; teal, RNU4-2; yellow, U5 variants.

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