This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]
Transcription factors with Perturb-seq knockdown data for ATIC. 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 = ATIC 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 ATIC, 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 |
|---|---|---|---|---|
| chr2:215,089,705–215,091,041 | 221.8 kb | Distal (>10kb) Multiome | 134 | |
| chr2:215,274,506–215,275,238 | 37.1 kb | Distal (>10kb) Multiome | 197 | |
| chr2:215,311,644–215,312,869 | 25 bp | At TSS Multiome | 1061 | |
| chr2:215,327,589–215,328,665 | 16.2 kb | Distal (>10kb) Multiome | 170 | |
| chr2:215,435,401–215,436,973 | 124.1 kb | Distal (>10kb) Multiome | 942 | |
| chr2:215,546,034–215,547,080 | 234.6 kb | Distal (>10kb) Multiome | 83 |
Genomic view of the ATIC 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.