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NF1 is detected as a mutational cancer driver in Invasive Breast Carcinoma

NF1 reports in Invasive Breast Carcinoma (BRCA)

Cancer type details
Invasive Breast Carcinoma
Cohorts 14
Samples 3,201
Mutations 19,887,724
Driver genes 117
Gene details
NF1
Ensembl ID ENSG00000196712
Transcript ID ENST00000358273
Protein ID ENSP00000351015
Cohorts where is driver 4
Mutated samples 68
Mutated samples (%) 2.12
Mutations 122
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 (%)
BRCA (Invasive Breast Carcinoma) 25542 1113 4.36
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