Fig. 2: i-eQTL target regions show high replication in independent data sets and validate experimentally.
From: Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
a Characterisation of i-eQTL target regions (unannotated expressed regions that were the target of a significant i-eQTL) was based on several features reflecting their relationship to known genes. These features were used to classify these regions into those with strong, moderate, and weak evidence for being part of a known gene. Regions categorised as strong and moderate are considered likely to be novel exons of known genes or misannotations of existing exon boundaries, whereas weak regions are presumed to be independent of any known genes. b Scatterplot of genomic distance and correlation of expression between i-eQTL target regions and their reference genes. c The expression of unannotated expressed regions was validated in GTEx data, using brain region-specific and global brain expression data. Validation rates in putamen and substantia nigra GTEx expression data were combined and displayed separately from validation rates in RNA-seq data from all GTEx brain regions. d Sequencing results for i-eQTL target regions with strong, moderate, and weak evidence of being part of a gene. In each case, tracks are provided relating to the location of the primers used to amplify the unannotated expressed region, the RNA-seq split read, the alignment of Sanger-sequenced cDNA, and the predicted boundaries of the unannotated expression region. Source data are provided as a Source Data file.
