This gene encodes a protein belonging to the spermidine/spermin synthase family and catalyzes the production of spermine from spermidine. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene cause an X-linked intellectual disability called Snyder-Robinson Syndrome (SRS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Transcription factors with Perturb-seq knockdown data for SMS. 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 = SMS 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 SMS, 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 |
|---|---|---|---|---|
| chrX:21,839,353–21,840,145 | 101.0 kb | Distal (>10kb) Multiome | 898 | |
| chrX:21,940,292–21,941,521 | 22 bp | At TSS Multiome | 595 | |
| chrX:21,942,006–21,942,197 | 1.3 kb | Proximal (<10kb) | 108 | |
| chrX:21,946,915–21,947,041 | 6.2 kb | Proximal (<10kb) | 40 | |
| chrX:21,947,150–21,947,586 | 6.4 kb | Proximal (<10kb) | 145 |
Genomic view of the SMS 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.