Fig. 6: Correlation between spliceogenicity and either phylogenetic conservation or variant consequence observed in the merged Var.GWAS and Var.P datasets.
From: Functional impact of splicing variants in the elaboration of complex traits in cattle
Scatter plots of GERP conservation scores versus ∆PSI values in a HEK293T and c MAC-T cells or versus prediction scores of e SpliceAI and g Pangolin. The highest GERP scores represent the highest phylogenetic conservation72,125. Enrichment in GERP-positive variants within spliceogenic or non-spliceogenic variants as determined by Vex-seq in b HEK293T and d MAC-T cells and as predicted by f SpliceAI and h Pangolin. Statistical enrichment within the 'Loss' and 'Gain' categories compared to 'Neutral' was assessed using a two-tailed Fisher’s exact test. The sample size in each category (n), the fold change and the p value (in brackets) are indicated. Bars indicate the percentage of GERP-positive variants for the three different categories of splicing effect (SE). Thresholds used to define categories are ±5% for ∆PSI values (FDR <0.01) and ±0.2 for prediction scores. Proportion of SDV in each variant consequence category as determined by Vex-seq in i HEK293T and j MAC-T cells or as predicted by k SpliceAI and l Pangolin. Source data are provided as a Source Data file.
