Fig. 2: Convergent changes across SCHEMA mutants in 1 month striatum.

A Top 20 most significant gene set changes by meta-analysis in 1 month striatum across SCHEMA mutants. Gray bar represents Stouffer’s meta Z score, each point represents the individual gene set Z scores from each SCHEMA mutant. Values outside the dashed lines correspond to the Z score which represents nominal significance (p < 0.05). For the purpose of display, redundant gene sets were collapsed and only the strongest of the similar gene sets is plotted (see Methods). B Individual GSEA results for top convergent synapse- and OXPHOS-related gene sets. Color represents normalized enrichment score (NES), with red indicating upregulation and blue indicating downregulation. Bubble size represents significance, and black borders indicate FDR < 0.05 significance. C Synapse-related genes which are consistently downregulated across SCHEMA mutants and dopamine response-related genes which are consistently upregulated in Srrm2 and Dagla mutants. Synapse related genes were selected from rank-sum analysis and Stouffer’s meta-analysis to prioritize genes which were downregulated across all SCHEMA mutants. All listed “synapse” genes are significantly (FDR < 0.05) downregulated in meta-analysis. * : p < 0.05, ** : FDR < 0.05.