Increased Expression of ER Stress Response Genes
Quartiles (boxes) and 1.5 times the interquartile range (whiskers) of the fold change of normalized RNA-seq read counts from fibroblasts are displayed. Three individuals with pathogenic variants in NBAS (F1:II.1, F2:II.1, and F5:II.2) are compared against the median per gene over 12 control samples. We obtained interaction partners of the NBAS protein from the BioGrid database (v.3.3).18 The genes associated with the corresponding gene ontology terms were downloaded from UniProt (accessed March 2015).19 For every box, we computed a two-sided Wilcoxon test whether it is symmetric about 1. Single data points are shown for boxes with less than 50 genes. Gene ontology (GO) terms: GO 0034976, response to endoplasmic reticulum stress; GO 0001889, liver development; GO 0006259, DNA metabolic process; GO 0006119, oxidative phosphorylation. ns, p > 0.1.