Extended Data Fig. 7. TDP-43 regulated UNC13A and UNC13B introns are expressed across human neuronal tissues in NYGC tissue samples.

STMN2 CE PSI correlates with TDP-43 regulated cryptics across NYGC RNA-seq dataset. IRratio³⁶ in UNC13A exon 31−32 (a) and UNC13B exon 21−22 (b) across NYGC tissue samples. UNC13A IR was lower in ALS-TDP cases than in controls in cervical spinal, frontal and motor cortices, and higher in FTLD-TDP cases than controls in frontal and temporal cortices. Possibly this reflects differences in the effects of cell type composition in disease state. Box plots (a, b): boundaries 25–75th percentiles; midline, median; whiskers, Tukey style..Wilcoxon test, significance levels reported as * (p < 0.05) ** (p < 0.01) *** (p < 0.001) **** (p < 0.0001). (c–e) Correlation in ALS/FTLD-TDP cortex between RAP1GAP CE (c), PFKP CE (d), and UNC13A CE (e) with STMN2 CE PSI in patients with at least 30 spliced reads across the CE locus. Spearman’s correlation.