This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for FRAS1. 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 = FRAS1 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 FRAS1, 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 |
|---|---|---|---|---|
| chr4:77,818,004–77,820,871 | 237.0 kb | Distal (>10kb) Multiome | 970 | |
| chr4:77,862,219–77,863,243 | 194.5 kb | Distal (>10kb) Multiome | 988 | |
| chr4:78,055,965–78,059,450 | 1.7 kb | Proximal (<10kb) Multiome | 898 | |
| chr4:78,059,622–78,059,930 | 2.3 kb | Proximal (<10kb) | 341 | |
| chr4:78,092,764–78,093,192 | 35.6 kb | Distal (>10kb) Multiome | 35 | |
| chr4:78,244,366–78,245,413 | 187.6 kb | Distal (>10kb) Multiome HiCAR | 80 | |
| chr4:78,307,062–78,307,644 | 250.1 kb | Distal (>10kb) Multiome | 161 |
Genomic view of the FRAS1 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.