This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
Transcription factors with Perturb-seq knockdown data for APTX. 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 = APTX 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 APTX, 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 |
|---|---|---|---|---|
| chr9:32,550,146–32,552,913 | 450.6 kb | Distal (>10kb) Multiome HiCAR | 1007 | |
| chr9:32,782,490–32,784,047 | 218.2 kb | Distal (>10kb) Multiome | 305 | |
| chr9:32,950,445–32,951,255 | 50.8 kb | Distal (>10kb) Multiome | 12 | |
| chr9:33,000,845–33,002,021 | 34 bp | At TSS Multiome | 802 | |
| chr9:33,007,840–33,008,080 | 6.2 kb | Proximal (<10kb) | 14 | |
| chr9:33,024,523–33,026,243 | 23.7 kb | Distal (>10kb) Multiome | 972 | |
| chr9:33,044,108–33,044,981 | 42.9 kb | Distal (>10kb) Multiome | 451 | |
| chr9:33,076,221–33,076,965 | 75.1 kb | Distal (>10kb) Multiome | 804 | |
| chr9:33,166,320–33,168,338 | 165.7 kb | Distal (>10kb) Multiome | 849 | |
| chr9:33,171,750–33,173,178 | 171.0 kb | Distal (>10kb) Multiome | 359 | |
| chr9:33,264,068–33,265,475 | 263.2 kb | Distal (>10kb) Multiome | 790 | |
| chr9:33,267,199–33,267,770 | 265.8 kb | Distal (>10kb) Multiome | 106 | |
| chr9:33,290,056–33,291,152 | 288.8 kb | Distal (>10kb) Multiome | 1075 |
Genomic view of the APTX 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.