The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
Transcription factors with Perturb-seq knockdown data for AAGAB. 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 = AAGAB 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 AAGAB, 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 |
|---|---|---|---|---|
| chr15:66,923,439–66,924,007 | 331.0 kb | Distal (>10kb) Multiome HiCAR | 191 | |
| chr15:66,927,757–66,928,460 | 326.4 kb | Distal (>10kb) Multiome HiCAR | 77 | |
| chr15:67,029,958–67,030,628 | 224.2 kb | Distal (>10kb) Multiome | 394 | |
| chr15:67,063,703–67,064,666 | 190.4 kb | Distal (>10kb) Multiome | 769 | |
| chr15:67,064,798–67,066,190 | 189.0 kb | Distal (>10kb) Multiome | 881 | |
| chr15:67,067,506–67,068,588 | 186.5 kb | Distal (>10kb) Multiome | 341 | |
| chr15:67,086,180–67,086,640 | 168.3 kb | Distal (>10kb) Multiome | 143 | |
| chr15:67,152,836–67,153,778 | 101.4 kb | Distal (>10kb) Multiome | 90 | |
| chr15:67,164,757–67,165,266 | 89.9 kb | Distal (>10kb) Multiome | 99 | |
| chr15:67,165,558–67,166,225 | 88.7 kb | Distal (>10kb) Multiome | 151 | |
| chr15:67,254,178–67,255,165 | 51 bp | At TSS Multiome | 964 | |
| chr15:67,267,516–67,268,376 | 13.2 kb | Distal (>10kb) Multiome | 61 | |
| chr15:67,474,546–67,475,121 | 220.1 kb | Distal (>10kb) Multiome | 32 | |
| chr15:67,520,813–67,522,002 | 266.7 kb | Distal (>10kb) Multiome | 1071 | |
| chr15:67,542,323–67,543,328 | 288.1 kb | Distal (>10kb) Multiome | 734 |
Genomic view of the AAGAB 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.