This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010]
Transcription factors with Perturb-seq knockdown data for SEPTIN5. 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 = SEPTIN5 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 SEPTIN5, 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 |
|---|---|---|---|---|
| chr22:19,431,488–19,432,799 | 285.8 kb | Distal (>10kb) Multiome | 1140 | |
| chr22:19,446,962–19,448,379 | 270.5 kb | Distal (>10kb) Multiome | 889 | |
| chr22:19,478,898–19,480,311 | 238.5 kb | Distal (>10kb) Multiome | 867 | |
| chr22:19,523,289–19,524,793 | 194.5 kb | Distal (>10kb) Multiome | 242 | |
| chr22:19,717,840–19,718,731 | 73 bp | At TSS Multiome | 592 | |
| chr22:19,723,413–19,724,584 | 6.0 kb | Proximal (<10kb) Multiome | 572 | |
| chr22:19,730,516–19,731,296 | 12.7 kb | Distal (>10kb) Multiome | 743 | |
| chr22:19,765,840–19,766,429 | 48.0 kb | Distal (>10kb) Multiome | 174 | |
| chr22:19,854,381–19,855,705 | 136.8 kb | Distal (>10kb) Multiome | 1014 | |
| chr22:19,891,576–19,892,031 | 173.6 kb | Distal (>10kb) Multiome | 631 | |
| chr22:19,959,058–19,959,828 | 241.3 kb | Distal (>10kb) Multiome | 576 | |
| chr22:19,962,339–19,962,798 | 244.4 kb | Distal (>10kb) Multiome | 442 | |
| chr22:19,986,350–19,987,426 | 269.0 kb | Distal (>10kb) Multiome | 539 | |
| chr22:20,016,068–20,017,437 | 298.7 kb | Distal (>10kb) Multiome | 640 |
Genomic view of the SEPTIN5 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.