Fig. 2

Enrichment of ASD missense and LOF variant genes across non-neuronal clusters of 3 brain regions—ACC (anterior cingulate cortex), MTG (middle temporal gyrus) and VISp (primary visual cortex). A Enrichment of ASD missense variants across clusters. The y axis here represents clusters, x axis odds ratio, the size of the circle by overlap gene size and the gradient represent p-value. Overlap size varies from 60 to 720, B Enrichment of ASD LOF variants across clusters. C LOF enriched clusters that are constrained are highlighted in red. D Scatterplot visualisation of cells after principal-component analysis and t-distributed stochastic neighbour embedding (tSNE), coloured by Seurat clustering and annotated by major cell types (neuron, oligodendrocytes, astrocytes, microglia, OPC) according to expression of known marker genes. We were unable to assign cell type identity for clusters 0, 1, 2, 6, 11, 15 (ACC), 0, 1, 2, 3, 12, 13 (MTG) and 0, 1, 2, 4, 6 (VISp) with the available set of known cell type markers. E Feature plot of neuronal bias gene, SCN2A across ACC, MTG and VISp regions. F Feature plot of neuronal bias gene, GRIN2B across ACC, MTG and VISp regions