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SMAD4 is detected as a mutational cancer driver in Pancreatic Adenocarcinoma

SMAD4 reports in Pancreatic Adenocarcinoma (PAAD)

Cancer type details
Pancreatic Adenocarcinoma
Cohorts 7
Samples 922
Mutations 2,520,434
Driver genes 64
Gene details
SMAD4
Ensembl ID ENSG00000141646
Transcript ID ENST00000342988
Protein ID ENSP00000341551
Cohorts where is driver 7
Mutated samples 165
Mutated samples (%) 17.90
Mutations 197
Mode of action Loss of function
Known driver True
Method signals per Cohort
Cohort Methods Samples Samples (%)
ClustL HotMAPS smRegions Clustered Mutations
CBaSE dNdScv Recurrent Mutations
FML Functional Mutations
MutPanning Tri-nucleotide specific bias
combination Combination
In-silico saturation mutagenesis
Alt text
In-silico saturation mutagenesis Left: In silico saturation mutagenesis of all coding variants represented in their relative position of the gene coding sequence. Relevant functional protein domains are represented within each gene body. Potential driver mutations appear in red and potential passenger mutations in gray. The concentration of driver mutations at different regions of the protein is represented as a density. The vertical bar plot shows the frequency bins of boostDM scores. Right: For each random subsample of the tumor type cohort, the number of unique mutations mapping to the gene can be counted. The bend of the best fitting curve to the subsampling data is informative of how close the current pool of mutations is from representing all the possible mutations in this gene-tumor type context..
Model Mutations Driver mutations Driver mutations (%)
PAAD (Pancreatic Adenocarcinoma) 4959 1357 27.36
Observed mutations in tumors
The mutations needle plot shows the distribution of the observed mutations along the protein sequence.
Mutation (GRCh38) Protein Position Samples Samples (%) Consequence Driver Driver score