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. Author manuscript; available in PMC: 2015 Aug 24.
Published in final edited form as: Science. 2015 May 7;348(6235):648–660. doi: 10.1126/science.1262110

Fig. 5. Splicing QTLs.

Fig. 5

(A) A splicing QTL that affects the relative usage of alternative splice isoforms for the tRNA methyltransferase 1 homolog gene (TRMT1). TRMT1 has three annotated isoforms, only two of which are abundant in skeletal muscle. The relative abundance of the two isoforms differs by genotype (number of individuals below each genotype), with heterozygotes showing an intermediate behavior. This SNP has not been detected as an eQTL. The right panel shows the exonic structure of the transcripts along with the location of the sQTL SNP (dotted line). (B) The relative proportions of the different types of splicing events detected by the two methods over the nine tested tissues (fig. S23). (C) Functional enrichment of sQTLs from Altrans and sQTLseekeR. For the top-ranked SNPs associated with a given splicing event, we computed the relative frequency with which they map to different biologically determined ENCODE functional domains.