Mutational Signatures (v3.2 - March 2021)
SBS91 · GRCh37 · COSMIC v93
Mutational profile using the conventional 96 mutation type classification. This classification is based on the six substitution subtypes: C>A, C>G, C>T, T>A, T>C, and T>G, as well as the nucleotides immediately 5’ and 3’ to the mutation.
Each of the substitutions is referred to by the pyrimidine of the mutated Watson—Crick base pair. Incorporating information on the bases immediately 5’ and 3’ to each mutated base generates 96 possible mutation types (6 types of substitution x 4 types of 5’ base x 4 types of 3’ base). Mutational signatures are displayed and reported based on the observed trinucleotide frequency of the genome, i.e., representing the relative proportions of mutations generated by each signature based on the actual trinucleotide frequencies of the corresponding reference genome.
Distinctive extended sequence context. Enrichment in ALU elements.
|Background||Identification study||First included in COSMIC|
|Robinson et al. 2021 BioRxiv||v3.2|
|Identification||NGS technique||Different variant callers||Multiple sequencing centres|
|Technical validation||Validated in orthogonal techniques||Replicated in additional studies||Extended context enrichment|
|Yes||No||Distinctive extended sequence context|
|Proposed aetiology||Mutational process||Support|
|Experimental validation||Experimental study||Species|
SBS91 was identified in normal cells from the cerebral cortex and the oesophageal squamous epithelium.