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MutationAligner: a resource of recurrent mutation hotspots in protein domains in cancer.

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Gauthier, Nicholas Paul 
Reznik, Ed 
Gao, Jianjiong 
Sumer, Selcuk Onur 
Schultz, Nikolaus 


The MutationAligner web resource, available at, enables discovery and exploration of somatic mutation hotspots identified in protein domains in currently (mid-2015) more than 5000 cancer patient samples across 22 different tumor types. Using multiple sequence alignments of protein domains in the human genome, we extend the principle of recurrence analysis by aggregating mutations in homologous positions across sets of paralogous genes. Protein domain analysis enhances the statistical power to detect cancer-relevant mutations and links mutations to the specific biological functions encoded in domains. We illustrate how the MutationAligner database and interactive web tool can be used to explore, visualize and analyze mutation hotspots in protein domains across genes and tumor types. We believe that MutationAligner will be an important resource for the cancer research community by providing detailed clues for the functional importance of particular mutations, as well as for the design of functional genomics experiments and for decision support in precision medicine. MutationAligner is slated to be periodically updated to incorporate additional analyses and new data from cancer genomics projects.



Databases, Genetic, Genomics, Humans, Mutation, Neoplasms, Protein Structure, Tertiary, Sequence Alignment, Software

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Nucleic Acids Res

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Oxford University Press (OUP)
Cancer Research UK (C14303/A17197)
This work was funded in part by the National Institutes of Health under grants P41 GM103504 (NIGMS) and U24 CA143840 (NCI), as well as Cancer Research UK (reference number C14303/A17197)