This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]
Transcription factors with Perturb-seq knockdown data for SEPTIN9. 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 = SEPTIN9 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 SEPTIN9, 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 |
|---|---|---|---|---|
| chr17:77,088,470–77,089,058 | 192.7 kb | Distal (>10kb) Multiome | 979 | |
| chr17:77,139,981–77,141,779 | 140.7 kb | Distal (>10kb) Multiome | 1027 | |
| chr17:77,246,721–77,247,535 | 34.2 kb | Distal (>10kb) Multiome | 586 | |
| chr17:77,279,760–77,282,164 | 122 bp | At TSS Multiome HiCAR | 914 | |
| chr17:77,288,864–77,289,060 | 7.4 kb | Proximal (<10kb) | 572 | |
| chr17:77,372,046–77,374,884 | 93.1 kb | Distal (>10kb) Multiome HiCAR | 945 | |
| chr17:77,450,417–77,450,616 | at TSS | At TSS | 402 | |
| chr17:77,450,738–77,452,223 | 170.0 kb | Distal (>10kb) Multiome | 808 | |
| chr17:77,466,045–77,466,683 | 184.9 kb | Distal (>10kb) Multiome | 190 | |
| chr17:77,528,540–77,529,182 | 247.4 kb | Distal (>10kb) Multiome | 388 | |
| chr17:77,542,545–77,543,050 | 261.4 kb | Distal (>10kb) Multiome | 355 |
Genomic view of the SEPTIN9 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.