Fig. 1: Gene expression in four different CATs and upon PUR or CHX treatment in LCLs.
From: Cracking rare disorders: a new minimally invasive RNA-seq protocol
A, B Upset plot of the genes within A the Mendeliome gene panel (n = 4732) and B the ID and epilepsy gene panel (n = 1689) and their expression (>1 TPM) in four different CATs. C, D Relative expression levels of CXPC (NM_004628.5) and D the NMD sensitive SRSF2 transcript (ENST00000452355.7) in LCL samples with, respectively, PPT1 (darkblue bars), TPP1 (brown bars), and XPC (heterozygous variant: gray bars; homozygous variant: blue bars) protein truncating variants. For each sample, the relative expression is given in the untreated situation, after 6 h treatment with puromycin, and after 6 h treatment with cycloheximide. The theoretical effect of the heterozygous (left) and homozygous (right) PTV in XPC (XPC (NM_004628.5): c.1290_1295del & p.(Tyr430_Glu432delinsTer) is given in (C) based on the position of the qPCR primers (as indicated by the blue convergent arrows). UNT untreated, CHX treated with cycloheximide, PUR treated with puromycin, C control (i.e., samples without XPC PTV).
