Fig. 5.

Gene sets using Gene Ontology terms that are significantly dysregulated in SETBP1 variant NPCs compared to WT NPCs. Selected gene set terms that are significantly dysregulated in SETBP1 PATH2, SETBP1 PATH3 and SETBP1 VUS2 NPCs for Gene Ontology (GO)-Biological Process (A), GO-Cellular Component (B), and (C) GO-Molecular Function terms. GSEA plots demonstrate opposing patterns of gene set expression between PATH2 and VUS2 compared to PATH3 for GO-BP terms forebrain development (D) and regulation of neural precursor cell proliferation (E). Likewise, gene set expression for GO-MF term frizzled binding (F) was aligned for PATH2 and VUS2 and contrasted with PATH3. Full list of significant terms for each SETBP1 SNV is available in the supplementary data