Extended Data Fig. 10. One of the splice junctions for UNC13A CE overlaps with an unannotated exon expressed in control cerebellum.

(a) Expression of splice junction reads supporting the UNC13A CE across tissues and disease subtypes. Junction counts are normalised by library size in millions (junctions per million). The long novel acceptor junction is expressed across all disease subtypes in the cerebellum. Box plots: boundaries 25–75th percentiles; midline, median; whiskers, Tukey style. (b) Example RNA-seq traces from IGV showing UNC13A cerebellar exon which shares the long novel acceptor junction as the UNC13A CE.