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. Author manuscript; available in PMC: 2014 Oct 24.
Published in final edited form as: Nat Neurosci. 2014 Aug 31;17(10):1418–1428. doi: 10.1038/nn.3801

Figure 5. Exon-level characterization of cis-eQTL signals.

Figure 5

(a) Example of a consistent gene-level cis-eQTL signal. rs4753547 was a significant eQTL for all five probe sets in GPR83, which has two recognized alternatively spliced isoforms. (b) Example of a significantly heterogeneous exon-specific cis-eQTL signal. The cis-eQTL signal for rs10986468 was evident for three probe sets out of nine covering ARPC5L in cerebellum (CRBL). These probe sets mapped to three consecutive exons and were unique to one of the three recognized alternatively spliced isoforms from this gene, namely ARPC5L-002. (c) Distribution of gene-level and exon-level cis-eQTL signals by distance from the target transcription start site. (d) Enrichment of gene-level and exon-specific cis-eQTL signals, stratified by their location with respect to their gene of action. Error bars represent s.e.m.