Supplementary Figure 2: CSEA identifies bias to specific brain regions.
From: Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
Cell-specific enrichment analyses (CSEA) of the union set (n = 253 independent genes) highlight a strong bias to various developing parts of the brain (color corresponds to FDR-adjusted one-tailed Fisher’s exact test P values; shaded regions closer to the center of each hexagon indicate increasing tissue specificity). a, We observe enrichment for both classes of striatal medium spiny neurons for our gene set. This tissue has been previously implicated in autism and candidate neurodevelopmental genes (J. Neurosci 34, 1420–1431, 2014), and we now observe cell-specific enrichment among genes with a significant excess of DNM. b, Application of CSEA on n = 253 independent genes to the additional cell types profiled in Zeisel et al. (Science 347, 1138–1142, 2015) identifies pyramidal neurons in layer 5 of the cortex and hippocampus. Color corresponds to FDR-adjusted one-tailed Fisher’s exact test P values; shaded regions closer to the center of each hexagon indicate increasing tissue specificity.
