AHI1 Back

Abelson helper integration site 1

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NCBI Description of AHI1

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified.

Community Annotation of AHI1 Add / Edit AHI1: 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).


AHI1 is highly significantly mutated in
AHI1 is significantly mutated in
AHI1 is near significance in

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

Data details

Mutation list for AHI1