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Fig. 5 | Genome Medicine

Fig. 5

From: Lethal variants in humans: lessons learned from a large molecular autopsy cohort

Fig. 5

RNA-seq identifies EPG5-related lethal phenotype. A, Pedigree of 16DG1465 with deletion of EPG5 exon-1 (two siblings died during infancy). B Image of the patient with facial dysmorphism. C MRI showing absent corpus callosum. D A sashimi plot showing the base-level density of reads mapped to a genomic region surrounding the ~70K deletion site. The x-axis represents the genomic coordinate in hg38. The y-axis represents per-base read counts. On the bottom, the boxes are annotated exons, the horizontal lines are introns, and the left-facing arrowheads indicate the negative strand. Arcs connecting exons represent splice junction reads. The plot shows that no reads are mapped to exon 1 of EPG5 and that 22 split-reads are mapped to an aberrant splicing junction between exon 2 of PSTPIP2 and exon 2 of EPG5 that are ~84Kbp apart

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