Figure 5.
Effect of de novo SVs on protein-coding genes. (A) Deletion of six exons of PTPRM, resulting in an in-frame shortened gene. (B) Deletion of one exon of LYN, causing an out-of-frame effect at the transcript level. (C) Deletion of eight exons of UBR5, causing an out-of-frame effect at the transcript level. (D) Duplication of one exon of BANK1, possibly resulting in a premature stop. (E) Duplication of the entire PROC1 gene. (F) Duplication of three entire genes (GCNT3, GTF2A2, BNIP2). Duplications are shown in green and deletions in red. (A) Ancestral allele, (D) derived allele.
