Basic information

Phenotype

SBS20 (POLD1 mutation and defective DNA mismatch repair)

Description

Activity scores for the SBS20 mutation signature. SBS20 may result from the combination of POLD1 mutation and defective DNA mismatch repair.

Source

https://cancer.sanger.ac.uk/signatures/sbs/sbs20/

Method

The R package SigProfilerMatrixGeneratorR (version 1.0) was used to call mutation signatures from all whole exome-derived somatic mutation data. The maximum number of signatures was set to 10 and nmf replicates was set to 100. The activity scores of the decomposed solution suggested by SigProfilerMatrixGenerator were used as signature scores.

Gene association

Number of significant genes with P-value ≤ 10^-6 for each cohorts are summarized in bar plots. The scatter plot highlights significant associations diven by protein rather than mRNA abundance.

Association of protein abundance of genes

Protein RNA SCNV

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			Signed p-values
Gene		Meta P	BRCA	CCRCC	COAD	GBM	HNSCC	LSCC	LUAD	OV	PDAC	UCEC
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* P-values for individual cohorts can be clicked to show the data plots. The rows in the table can be expanded to show results from other omics.

Gene set enrichment analysis

Submit genes and the common logarithm of the p-values of their association with SBS20 (POLD1 mutation and defective DNA mismatch repair) to WebGestalt.

Phosphosite association

Number of significant genes with P-value ≤ 10^-6 for each cohorts are summarized in the bar plot. The scatter plot highlights significant associations diven by phosphorylation rather than protein abundance.

* P-values for individual cohorts can be clicked to show the data plots.

Gene set enrichment analysis

Submit phosphorylation sites and the common logarithm of the p-values of their association with SBS20 (POLD1 mutation and defective DNA mismatch repair) to WebGestalt.