Fig. 2: Enrichment for de novo and inherited pdSNVs in SynGO Genes. | npj Genomic Medicine

Fig. 2: Enrichment for de novo and inherited pdSNVs in SynGO Genes.

From: Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates

Fig. 2

Visualisation of gene set enrichment analyses (GSEA) of genes harbouring pdSNVs (left) and synonymous variants (right) in affected individuals, each compared to a background set of brain-expressed genes. All Cell Components (CC) or Biological Process (BP) related terms with gene annotations in SynGO are plotted in a circular fashion, with the highest hierarchical term (“synapse” for CC or “process in synapse” for BP) in the centre and each layer of subclasses in outward concentric rings. Over-represented synaptic terms are indicated with different colours, according to the Q-value, and are reported in detail in Supplementary Table 7. The CC and BP plots of genes affected by rare pdSNVs (left) show an enrichment of synaptic terms, while no enrichment emerged from the genes hosting rare synonymous SNVs (right).

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