This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Transcription factors with Perturb-seq knockdown data for SS18L1. 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 = SS18L1 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 SS18L1, 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 |
|---|---|---|---|---|
| chr20:62,065,357–62,067,442 | 77.7 kb | Distal (>10kb) Multiome | 841 | |
| chr20:62,121,331–62,123,419 | 21.6 kb | Distal (>10kb) Multiome | 961 | |
| chr20:62,142,789–62,144,593 | 258 bp | At TSS Multiome | 841 | |
| chr20:62,182,546–62,183,326 | 39.2 kb | Distal (>10kb) Multiome | 1075 | |
| chr20:62,219,369–62,220,936 | 76.6 kb | Distal (>10kb) Multiome | 599 | |
| chr20:62,237,918–62,239,210 | 94.6 kb | Distal (>10kb) Multiome | 794 | |
| chr20:62,301,857–62,303,576 | 158.4 kb | Distal (>10kb) Multiome | 1110 | |
| chr20:62,365,805–62,369,404 | 225.3 kb | Distal (>10kb) Multiome | 960 | |
| chr20:62,386,553–62,387,309 | 243.2 kb | Distal (>10kb) Multiome | 885 | |
| chr20:62,406,793–62,407,817 | 263.6 kb | Distal (>10kb) Multiome | 935 |
Genomic view of the SS18L1 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.