Fig. 5: De novo DLX4 retrotransposition possibly altering splicing in STXBP1 deep intronic region. | npj Genomic Medicine

Fig. 5: De novo DLX4 retrotransposition possibly altering splicing in STXBP1 deep intronic region.

From: Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay

Fig. 5

A de novo retrotransposition of a DLX4 transcript into STXBP1 intron 10 in Pt2178. Depicted are IGV snapshots of STXBP1 (top) and DLX4 (middle) alongside GENCODE transcript models, and SpliceAI score distribution along the mutant STXBP1 intron 10 sequence in Pt2178 (bottom). For the SpliceAI score, the upper portion illustrates donor site scores while the lower portion displays acceptor site scores. Blue bars: wild-type sequence scores; red bars: mutant sequence scores; blue rectangle: potential pseudo-exonization based on SpliceAI predictions.

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