The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Transcription factors with Perturb-seq knockdown data for SPG11. 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 = SPG11 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 SPG11, 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 |
|---|---|---|---|---|
| chr15:44,426,579–44,428,620 | 236.5 kb | Distal (>10kb) Multiome | 941 | |
| chr15:44,536,026–44,537,829 | 126.7 kb | Distal (>10kb) Multiome | 958 | |
| chr15:44,663,054–44,664,141 | 50 bp | At TSS Multiome | 1030 | |
| chr15:44,683,274–44,683,762 | 19.8 kb | Distal (>10kb) Multiome | 211 | |
| chr15:44,710,930–44,712,219 | 47.8 kb | Distal (>10kb) Multiome | 782 | |
| chr15:44,728,448–44,729,627 | 65.3 kb | Distal (>10kb) Multiome | 787 |
Genomic view of the SPG11 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.