IntOGen - EPAS1 gene cancer mutations

EPAS1 is detected as a mutational cancer driver

EPAS1 reports

Methods
Mutation distribution

Gene details

EPAS1
Ensembl ID ENSG00000116016 Transcript ID ENST00000263734 Protein ID ENSP00000263734
Cancer types where is driver 2 Cohorts where is driver 2 Mutated samples 12 Mutations 331
Mode of action Activating
Known driver True

Method signals per Cancer Type

Cancer type	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.

Mutation (GRCh38)	Protein Position	Samples	Consequence