The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]
Transcription factors with Perturb-seq knockdown data for FRA10AC1. 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 = FRA10AC1 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 FRA10AC1, 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 |
|---|---|---|---|---|
| chr10:93,438,424–93,439,283 | 263.7 kb | Distal (>10kb) Multiome | 284 | |
| chr10:93,440,320–93,441,000 | 261.9 kb | Distal (>10kb) Multiome | 170 | |
| chr10:93,445,505–93,446,138 | 256.8 kb | Distal (>10kb) Multiome | 524 | |
| chr10:93,494,134–93,494,978 | 208.0 kb | Distal (>10kb) Multiome | 27 | |
| chr10:93,495,692–93,496,987 | 206.1 kb | Distal (>10kb) Multiome | 785 | |
| chr10:93,566,315–93,567,350 | 135.8 kb | Distal (>10kb) Multiome | 301 | |
| chr10:93,702,336–93,703,002 | 17 bp | At TSS Multiome | 1036 | |
| chr10:93,748,844–93,749,704 | 46.7 kb | Distal (>10kb) Multiome | 214 | |
| chr10:93,841,872–93,842,361 | 139.5 kb | Distal (>10kb) Multiome | 102 | |
| chr10:93,893,623–93,894,609 | 191.4 kb | Distal (>10kb) Multiome | 664 | |
| chr10:93,993,307–93,994,580 | 291.4 kb | Distal (>10kb) Multiome | 386 |
Genomic view of the FRA10AC1 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.