Fig. 4

Upregulated L1 elements may negatively impact the expression of specific ASD-related host genes. A Number of upregulated L1 elements overlapping DE and non-DE genes. B Number of upregulated L1 elements overlapping upregulated and downregulated genes. C z score associated with upregulated L1s (z score > 3) and their overlapping genes in samples, and non-upregulated L1s (|z score < 2|) and their overlapping genes in samples SRR9292614, SRR9292620 and SRR9292621. D Number of genes overlapping upregulated L1s and associated with a negative z score in common with genes nearby genomic loci where the L1 RNA binds genomic DNA in mouse, compared to random distributions computed with expressed genes, **z score > 5. E Example of an upregulated L1 intronic to a gene showing an average negative z score. The sashimi plots represent the normalized expression at the level of the intronic upregulated L1 and the closest exon belonging to the DLGAP1 gene. The upregulated L1 is in red in the RepeatMasker track. Other annotated repeats are in black. DLGAP1 exon is in blue. F Distribution of correlation coefficients between intronic and extragenic L1s and the closest/overlapping gene for all L1/gene couples in different human tissues grouped together and G taken ungrouped