Impact of CNVs on genes and their evolution.

(A) Percentage of genes of each group of evolutionary ages that is associated to an eCNV, for each type of eCNV. (B) RVIS percentile of the eGenes, by type of eCNV. Genes with the lowest percentile are among the most intolerant of human genes. (C) Evolutionarily ancient and young genes accumulate different kinds of structural variants. While young genes are enriched in coding deletions (which alter gene dosage or disrupt the protein, sometimes affecting gene expression), ancient genes have highly conserved coding sequence but an enrichment of deletions within their introns. As we have shown, these changes in introns can be associated with changes in gene expression, showing that although the protein is highly conserved, the expression of it can change from an individual to another due to changes in regulation.