Fig. 2

Experimental validation of CBX3 processed pseudogene identified with PΨFinder. A Circos plot showing the coverage over CBX3 and its insertion site in C15ORF57 for sample113. The outer heatmap displays the coverage over the entire CBX3 parent gene (only exons are depicted), darker color indicates higher coverage. The inner histogram shows the coverage over the exon-exon junctions, suggesting the presence of a PΨg. The red outmost histogram displays the coverage across the predicted insertion site in SCAI, shown by the arrow. B DNA sequence over the breakpoints of CBX3-PΨg inserted in intron 2 of the C15ORF57 gene. Genomic coordinates refer to the human reference genome build hg19. Red arrows point out the actual breakpoints. Sequence for breakpoint 1 (PCR 1) includes an unknown insertion (ATTTTTTTTTTTAAAGA) and duplicated nucleotides (TCAGGAAATAT). Sequence for breakpoint 2 (PCR2) without any aberrations. CBX3-PΨg is reversed inserted on the minus strand, its parent gene is read from the plus strand, in the same reading orientation than the CBX3 gene (see Additional file 2 for further details)