Fig. 5.

Detection and validation of a germline heterozygous STAT2 variant which disrupts BP and splicing in a life-threatening COVID-19 patient. (A) Detection of a heterozygous STAT2 variant disrupting BP. (B) STAT2 transcripts and proportions from exon trapping assay in COS-7 cells. (C) STAT2 transcripts and proportions from RNA extracted from whole blood. (D) Ratio of the GTEx-annotated transcripts among the total transcripts. (E) Estimation of STAT2 canonical transcripts based on RT-qPCR, measuring STAT2 mRNA levels in whole blood using two probes spanning intron 5 (probe 5-6) and intron 6 (probe 6-7).