IntOGen - PBRM1 gene cancer mutations in ESCA

PBRM1 is detected as a mutational cancer driver in Esophageal Adenocarcinoma

PBRM1 reports in Esophageal Adenocarcinoma (ESCA)

Methods
Mutation distribution

Cancer type details

Esophageal Adenocarcinoma
Cohorts 8 Samples 1,139 Mutations 17,905,104 Driver genes 90

Gene details

PBRM1
Ensembl ID ENSG00000163939 Transcript ID ENST00000409057 Protein ID ENSP00000386593
Cohorts where is driver 3 Mutated samples 9 Mutated samples (%) 0.79 Mutations 23
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

The mutations needle plot shows the distribution of the observed mutations along the protein sequence.

Highlight in X-axis:

Mutation (GRCh38)	Protein Position	Samples	Samples (%)	Consequence