Fig. 2
LINC-PINT variant rs10234094 is associated with alternative splicing of exon-001.4. A. LINC-PINT gene structure based on Ensembl [60] genome build GRCh37/hg19 (release 75)26, illustrates alternatively spliced exons, resulting transcripts, and Ensembl regulatory build annotation. Lead SNP, rs10234094, is indicated in red; the region identified to harbor SNPs in LD with the lead SNP is indicated in orange; Exon-001.4 (ENSE00001802751) and Exon-001.5 (ENSE00001786709) are indicated in blue. B normalized read counts that map to Exon-001.4 (ENSE00001802751) from RNAseq measures in temporal cortex (TCX) and cerebellum (CER) brain tissue are shown with respect to rs10234094 genotypes. C Normalized intron excision ratios for the intron between Exon-001.4 and Exon-001.5 from GTEx RNAseq data in Brain Frontal Cortex and Brain Cortex samples are shown with respect to rs10234094 genotypes, adapted from the GTEx online resource [15]. GTEx resource is based on genome build GRCh38/hg38 where co-ordinates for the intron between Exon-001.4 and Exon-001.5 are 130,984,109 to 131,002,197, which correspond to 130,686,955 to 130,668,869 for build GRCh37/hg19