Table 2.
Selected genes with altered mRNA expression following overexpression of the MCPH1 rs61749465 G allele relative to the reference allele in HEK293 cells.
| Gene Symbol |
Gene Name | Fold Change |
P value | Q value |
|---|---|---|---|---|
| TXNIP | Thioredoxin interacting protein | 0.74 | 6.22x10−28 | 1.86x10−24 |
| CHORDC1 | Cysteine And Histidine Rich Domain Containing 1 | 1.34 | 3.02x10−19 | 4.51x10−16 |
| TRPM8† | Transient Receptor Potential Cation Channel Subfamily M Member 8 | 1.17 | 1.81x10−12 | 1.80x10−09 |
| ANKRD12† | Ankyrin Repeat Domain 12 | 1.24 | 1.10x10−10 | 8.15x10−08 |
| HSP90AA1 | Heat shock protein 90kDa alpha (cytosolic), class A member 1 | 1.15 | 1.47x10−10 | 8.15x10−8 |
| HSPA1B | Heat shock 70kDa protein 1B | 1.19 | 1.64x10−10 | 8.15x10−8 |
| HSPH1 | Heat Shock Protein Family H (Hsp110) Member 1 | 1.21 | 6.50x10−10 | 2.77x10−7 |
| STIP1 | Stress-induced-phosphoprotein 1 | 1.13 | 6.97x10−9 | 2.60x10−6 |
| RPL10† | Ribosomal protein L10 | 0.90 | 1.44x10−8 | 4.77x10−6 |
| MRVI1† | Murine Retrovirus Integration Site 1 Homolog | 1.13 | 1.60x10−8 | 4.77x10−6 |
RNA sequencing (RNAseq) was performed on mRNA from HEK293 cells stably transfected with plasmids containing the MCPH1 rs61749465 or reference sequence. The ten genes with the most significant P values are shown. Fold change is the mean of data from three replicate experiments comparing the variant to the reference allele was. The unadjusted significance values (P value) and the false discovery rate (FDR) adjusted and Q values are shown.
Genes affected by over expression of MCPH1 carrying the variant alleles of rs199422124 and rs61749465.