Mutational Signatures (v3.5 - November 2025)
ID23 · GRCh37 · COSMIC v103
Mutational profile
The height of each mutational profile bar represents the proportion of one ID mutation type among all ID mutation types in the signature. Although there is no single intuitive and naturally constrained set of ID mutation types (as there arguably are for SBSs and DBSs), an 83 subclass categorisation of ID mutations was designed.
The 83 ID classification incorporates the prior knowledge that IDs commonly have sizes of 1-10 bps, that both insertions and deletions exist, that IDs of C and T occur at different rates, that IDs preferentially occur at repetitive elements, that the length of the repeat unit may influence the likelihood of an ID occurring, that the number of repeat units in a repeat stretch may influence the likelihood of an ID occurring, that IDs are also fostered in some instances by overlapping sequence microhomologies at the ID boundaries and that different mutational processes may, in principle, be differently influenced by these features. We therefore designed an 83 subclass categorisation of IDs that allows some exploration of all the above possibilities, while constraining the number of categories in order to accommodate the relatively small numbers of IDs (compared to substitutions) found in most genomes. This classification categorises IDs of lengths from 1bp to >5bp, for 1bp IDs classifies them as T or C and the number of single base repeats they occur in from 0 to >5, categorises lengths of non-single base repeat units from 2bp to >5bp and the number of repeats from 1 to >5 and size of microhomology from 0bp to >5bp. We recognise that different classifications of IDs may be preferred by others. The ID mutation types are enumerated in the following Excel document.
Proposed aetiology
Aristolochic acid exposure.
Acceptance criteria
| Background | Identification study | First included in COSMIC | |
|---|---|---|---|
| Senkin et al. 2024 Nature | v3.4 | ||
| Identification | NGS technique | Different variant callers | Multiple sequencing centres |
| WGS | Yes | Yes | |
| Technical validation | Validated in orthogonal techniques | Replicated in additional studies | Extended context enrichment |
| Yes | Yes | - | |
| Proposed aetiology | Mutational process | Support | |
| Aristolochic acid exposure | Experimental confirmation | ||
| Experimental validation | Experimental study | Species | |
| Chen et al. 2024 | Human cell lines | ||
Summary of the technical and experimental evidence available in the scientific literature regarding the validation of the mutational signature.
Tissue distribution
Identified in clear cell renal cell carcinomas.
Associated signatures
ID23 is associated with other aristolochic acid exposure signatures, SBS22a, SBS22b, and DBS20.