Fig. 3: Detailed description of synaptic signaling–related genes in ASD patients in this study.

A Visualization of the results of burden tests of nominal significant association performed using Custom color-coding of SynGO ontologies (https://www.syngoportal.org/plotter.html). All biological process (BP)-related terms populated with gene annotations in SynGO were plotted in a circular fashion, with the highest hierarchical term (synapse) in the center and each layer of subclasses in outward concentric rings (left panel). We colored ontology terms with P-values < 0.05 from the results of burden tests with gene set in SynGO (Table 1). We then visualized GO terms focusing on “synaptic signaling (GO:0099536)” that showed a significant association with ASD (right panel). Under “synaptic signaling”, trans-synaptic signaling (GO:0099537) showed the most significant association with ASD. Among subclasses of trans-synaptic signaling, several GO terms, such as chemical signal transmission (GO: 0007268), showed a nominally significant association with ASD. * Indicates a significant association considering multiple comparison (Q-value < 0.1). B Results of specific expression analysis (SEA) of genes among the prioritized variants of trans-synaptic signaling genes across brain regions and development. SEA revealed that genes in trans-synaptic signaling (GO: 0099537) detected in ASD cases were enriched during the early mid-fetal period in the cortex and striatum. Color bar shows Q-values. C Results of cell type-specific expression analysis (CSEA) with Q-value < 0.1 based on genes among the prioritized variants of trans-synaptic signaling genes. CSEA revealed that genes in trans-synaptic signaling detected in ASD cases were enriched in corticothalamic neurons and medium spiny neurons in the striatum.