Brain Regions: PFC Prefrontal Cortex, PC Parietal Cortex, CB Cerebellum, FC Frontal Cortex

Supplementary Table 1. Brain eQTL data: brain regions covered by gene expression and SNP microarrays in different studies
Authors / N / Brain regions / Gene expression microarray* / SNP genotype microarray / CB results / PC results
Gibbs JR et al.22 / 150 / CB, FC, PONS, TC / GSE15745, Illumina Human Ref-8 v2.0 Expression BeadChip / HumanHap550 beadchips, 2,545,178 SNPs imputed / n.s. / n/a
Colantuoni C et al.25 (Bigos et al.24 reported on a subset of data from this study). / 269 / PFC / GSE30272, Illumina Human 49K Oligo Array / IlluminaInfinium II 650K or IlluminaInfinium HD Gemini 1M Duo BeadChips / n/a / n/a
Kang HJ et al.23 / 57 / 16 brain regions / GSE25219, AffymetrixGeneChip Human Exon 1.0 ST Array / Illumina Omni-2.5 Array / n/a / n/a
Liu C et al. (this study) / 130-150 / PC, CB / AffymetrixGeneChip Human Gene 1.0 ST Array / Affymetrix Genome-Wide Human SNP Array 500K, 852,963 SNPs imputed. / rs1006737 associated with down-regulation of CACNA1C expression / n.s.

Brain regions: PFC prefrontal cortex, PC parietal cortex, CB cerebellum, FC frontal cortex, PFC prefrontal cortex, PONS pons, TC temporal cortex.

*The AffymetrixGeneChip Human Gene 1.0 ST Array probesets 7953049 and 7953050 are near exons 8 and 8a. Illumina’sHumanRef-8 BeadChip has one CACNA1Cprobe, ILMN_1666775, which maps to a region 187 Kb away from exon 8 and 8a. Illumina’s Human 49K Oligo Array has probe HEEBO-098-HCA98N4 near exon 8a. In BrainCloud, the corresponding probe is labeled as 37564. The AffymetrixGeneChipHuman Exon 1.0 has two probesets, 3400806 and 3400807, near exon 8 and 8a.

Supplementary Figure 1

Legend: Timothy Syndrome type 2, functional mutations in Cav1.2, the protein product of CACNA1C. This patient’s mutation is G402S. Figure taken from Splawski et al., 2005.