Fig. 3: Disorder-associated transcriptomic alterations.

A The genes’ t-statistics of the meta-analysis for the DMD, DS, FXS, and RTT datasets. In the meta-analysis, the log₂FC estimates and their standard errors were used to calculate the joint t-statistics. B The log₂FCs of PFEN2, ZNF22, SRBD1, and ITGB4 across the DMD, DS, FXS, and RTT datasets. PFEN2, ZNF22, SRBD1, and ITGB4 are the genes that are most strongly associated with DMD, DS, FXS, and RTT, respectively. C Expression of the four gene marker per supercluster in the brain (Human Brain Cell Atlas v1.0). The color scale shows the mean expression of the expressing cell fraction. This value is scaled per row as the faction of the maximum value. D Bar chart of the signed -log₁₀ P value for the disorder-associated GO-BP terms. The GO-BP terms shown for each disease are the two terms that are significantly enriched (P value < 0.05) with consistent direction of effect in the largest number of DMD, DS, FXS, and RTT datasets (from top to bottom).