Extended Data Fig. 1: Transcriptomic analysis of differentially expressed genes in iGLUT and iGABA neurons.
From: Phenotypic complexities of rare heterozygous neurexin-1 deletions
(a) Splicegraph displaying significant gene wide splicing clusters at NRXN1 SS3 (p = 0.0196), compared via Dirichlet-multinomial generalized linear model with Bonferroni corrections. (b, d) Volcano plots of differential gene expression (DE) analysis across both genotypes in iGLUT and (i, k) iGABA neurons, significant genes defined by FDR correction. Vertical dashed lines represent DE genes ±1.5 Log2FC. Horizontal dashed lines represent FDR = 0.1 cutoff (lower) and Bonferroni corrected cutoff (upper). (c, e) Sunburst plots of all FDR corrected DEGs with SynGO annotated synapse function for iGLUT and (j, l) iGABA neurons. (f, m) Overlap of DEGs and (g,n) gene set enrichment analysis (GSEA) between genotypes. (h,o) Distinct gene expression patterns by hierarchal clustering of all patient specific DEGs. Sample information correspond to Fig. 1.
