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. [provided by RefSeq, Oct 2008]
Transcription factors with Perturb-seq knockdown data for AHI1. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = AHI1 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of AHI1, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr6:135,270,682–135,272,345 | 226.3 kb | Distal (>10kb) Multiome | 408 | |
| chr6:135,318,890–135,319,225 | 4.2 kb | Proximal (<10kb) | 65 | |
| chr6:135,321,395–135,321,610 | 1.8 kb | Proximal (<10kb) | 216 | |
| chr6:135,322,780–135,323,773 | 174.4 kb | Distal (>10kb) Multiome | 488 | |
| chr6:135,497,226–135,498,795 | 1 bp | At TSS Multiome | 1084 | |
| chr6:135,502,596–135,502,930 | 4.9 kb | Proximal (<10kb) | 7 | |
| chr6:135,503,753–135,504,314 | 6.0 kb | Proximal (<10kb) | 125 | |
| chr6:135,506,402–135,506,539 | 8.7 kb | Proximal (<10kb) | 91 | |
| chr6:136,249,441–136,251,347 | 752.6 kb | Distal (>10kb) Multiome HiCAR | 921 | |
| chr6:136,288,756–136,290,871 | 792.1 kb | Distal (>10kb) Multiome HiCAR | 1158 |
Genomic view of the AHI1 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.