Fig. 3: Functional enrichment and distribution of sQTLs. | Nature Communications

Fig. 3: Functional enrichment and distribution of sQTLs.

From: Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome

Fig. 3

a Top enrichments of sQTLs in functional annotations. The height of the bars represents the odds ratio (OR) of the observed number of sQTLs to the expected number of variants that are not sQTLs overlapping a given annotation (see Methods): Variant Effect Predictor (VEP) categories (red) and impact (orange), ENCODE RBP eCLIP peaks (green), exons of GENCODE v19 protein coding and lincRNA genes (yellow), Ensembl Regulatory Build elements (blue) and GWAS Catalog hits (purple). All these enrichments are significant at FDR < 0.05 and have OR confidence intervals not overlapping the range [1/1.50, 1.50]. b Distribution of the mean proportion of sQTLs along the gene bodies of sGenes, their upstream and downstream regions, introns and exons. The red dashed line represents the expected distribution under a uniform model (see Methods). Source data for both a and b are provided as a Source Data file.

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