IRF6 Back

interferon regulatory factor 6

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NCBI Description of IRF6

This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.

Community Annotation of IRF6 Add / Edit IRF6: Annotations

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


IRF6 is highly significantly mutated in
IRF6 is significantly mutated in
combined cohort
46 patients (0%)
IRF6 is near significance in
Head and neck
8 patients (2%)

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for IRF6