Line Plot from Scientific Research

Effect on RNA expression of the splice donor variant BRF2 (NM_018310.4):c.214 + 1G > A; p.(Glu52_Arg71del) (a.k.a. rs200905754). The median RNA-sequence coverage is reported for heterozygous (in blue) and noncarriers (in green) in blood (left top panel) and adipose tissue (right top panel). The splicing variant (dashed line in bottom panel) perturbs the correct splicing of exon 2 (black isoform, top cis-sQTL) and induces the skipping of that exon (red isoform: effect = 2.49 SD, P = 1.0 x 10 -444 ). The splice junction usage quantification was calculated in terms of PSI (white labels). The dark blue squares represent exons of selected BRF2 transcripts which matched exon–intron boundary of the splice junctions.

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