Fig. 4

Spatiotemporal association analysis of critical exons in cluster genes. A Spatiotemporal heat maps (with the locations of brain tissue samples depicted on the medial surface) include information on 16 brain regions that were outlined in 3 developmental human brain stages (prenatal, early childhood and adult). Enrichment of critical exons show highest expression in prenatal stage and DFC/V1C region. For each brain region, (AMY, amygdaloid complex; CBC, cerebellar cortex; V1C, primary visual cortex; STC, posterior (caudal) superior temporal cortex; IPC, posterior inferior parietal cortex; A1C, primary auditory cortex; S1C, primary somatosensory cortex; M1C, primary motor cortex; STR, striatum; DFC, dorsolateral prefrontal cortex; MFC, medial prefrontal cortex; VFC, ventrolateral prefrontal cortex; OFC, orbital frontal cortex; MD, mediodorsal nucleus of thalamus; ITC, inferolateral temporal cortex; HIP, hippocampus), the colour gradient reflects the association Odds ratio between expression levels and the burden of rare missense variants. B Pathway network analysis in ASD LOF enriched clusters drawn using Cytoscape. Colour gradient and size of nodes are represented by pvalue and Odds ratio, respectively. Top 3 pathway clusters are highlighted in red