Supplementary Figure 8: Enrichment of dURVs in schizophrenia cases across gene sets from different brain and neuronal cell types

Burden analysis for dURVs across genes defined from (a) 11 brain cell types and (b) 3 neuron cell types: excitatory pyramidal neurons (Exc), parvalbumin (PV)-expressing fast-spiking interneurons, vasoactive intestinal peptide (VIP)-expressing interneurons, both for expressed genes and cell-type specific genes. Brain cell type gene sets were generated selecting genes for which log-expression in a given cell type was 0.5 greater than the median log-expression across 11 central nervous system cell types ascertained from developing and mature mouse forebrain. Neuron cell type expressed gene sets were defined as those with more than 50 observed transcripts per million (TPM). Neuron cell type specific gene sets were defined as those observed more than 5 times the minimum expression across the 3 different cell types. Expression profiles for neurons were ascertained from nuclei isolated from adult (8–11 weeks) mouse neocortex. Enrichment and P values were computed using a logistic regression model using exome-wide dURV count as a covariate to correct for average exome-wide burden (dot-dashed line). Horizontal bars indicate 95% confidence intervals.