Fig. 4

Transcriptomic analysis of cells expressing HDGC and OFC variants. (A) Graph showing the number of upregulated and downregulated DEGs identified in D254H, P373L, D254N, and P373R cells individually, when compared with the wild-type condition. DEGs were defined based on a fold change ≥ 2 or ≤ -2 concomitant with an FDR ≤ 0.05. (B) Venn diagram highlighting common and exclusive DEGs from HDGC and OFC contexts. (C) Heatmap representing gene expression levels of significant DEGs. Genes were sorted by fold-change. Orange indicates upregulation and blue indicates downregulation. (D) Functional classification and enrichment analysis reveal a network of Cellular Components, Biological Processes, and Molecular Functions associated with OFC. Dot area indicates the number of genes in each category and dashed lines represent enrichment scores. (E) REG1A protein level was validated by Western Blot in cells transfected with vectors encoding the different variants, as well as with wild-type protein and the empty vector (Mock). α-Tubulin was used as a loading control. (F) Protein quantification by densitometry in four independent experiments