This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
Transcription factors with Perturb-seq knockdown data for SPECC1L. 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 = SPECC1L 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 SPECC1L, 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 |
|---|---|---|---|---|
| chr22:24,010,924–24,011,936 | 259.5 kb | Distal (>10kb) Multiome | 796 | |
| chr22:24,155,850–24,157,427 | 113.7 kb | Distal (>10kb) Multiome | 647 | |
| chr22:24,269,367–24,269,557 | 1.3 kb | Proximal (<10kb) | 111 | |
| chr22:24,270,283–24,271,594 | 40 bp | At TSS Multiome | 875 | |
| chr22:24,423,554–24,424,614 | 153.1 kb | Distal (>10kb) Multiome | 450 | |
| chr22:24,554,481–24,556,186 | 284.5 kb | Distal (>10kb) Multiome | 1058 |
Genomic view of the SPECC1L 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.