Fig. 5: Functional MapUTR variants are clinically relevant in cancer patients. | Nature Communications

Fig. 5: Functional MapUTR variants are clinically relevant in cancer patients.

From: Massively parallel screen uncovers many rare 3′ UTR variants regulating mRNA abundance of cancer driver genes

Fig. 5

a Functional COSMIC variants associated with gene expression outliers in different cancers. Cancer types and genes, genomic coordinates (hg19) and alternative alleles of the variant are shown on top. Relative activity scores (lnFC) tested in HeLa are also shown. b Similar as (a), but for functional rare variants. Relative activity scores (lnFC) tested in both HEK293 (before ‘|’) and HeLa (after ‘|’) are shown. c Higher uTMB of functional MapUTR variants is associated with worse progression-free interval (PFI) in LUSC. uTMB_func_overall: uTMB of functional variants in all tested genes, uTMB_driver_func_overall: uTMB of functional variants in all tested cancer driver genes, uTMB_driver_func_detrimental: uTMB of functional variants that increase oncogene expression or decrease TSG expression, uTMB_nonfunc: uTMB of non-functional variants in all tested genes, uTMB_driver_nonfunc: uTMB of non-functional variants in all tested cancer driver genes, uTMB_driver_func_benign: uTMB of functional variants that decrease oncogene expression or increase TSG expression. Patients were grouped into high (orange) and low (turquoise) groups by uTMB level tertiles. P-values were calculated by two-sided log-rank tests. a–c Source data are provided as a Source Data file.

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