This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Transcription factors with Perturb-seq knockdown data for STXBP1. 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 = STXBP1 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 STXBP1, 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 |
|---|---|---|---|---|
| chr9:127,396,281–127,398,388 | 215.3 kb | Distal (>10kb) Multiome | 843 | |
| chr9:127,423,809–127,424,734 | 188.0 kb | Distal (>10kb) Multiome | 791 | |
| chr9:127,450,607–127,452,473 | 160.9 kb | Distal (>10kb) Multiome | 1009 | |
| chr9:127,567,936–127,569,972 | 43.1 kb | Distal (>10kb) Multiome | 660 | |
| chr9:127,608,129–127,608,913 | 3.7 kb | Proximal (<10kb) Multiome | 700 | |
| chr9:127,611,734–127,612,761 | 81 bp | At TSS Multiome | 566 | |
| chr9:127,613,060–127,613,424 | 791 bp | At TSS | 324 | |
| chr9:127,699,155–127,699,632 | 87.2 kb | Distal (>10kb) Multiome | 440 | |
| chr9:127,715,013–127,716,345 | 103.5 kb | Distal (>10kb) Multiome HiCAR | 735 | |
| chr9:127,734,444–127,735,606 | 123.0 kb | Distal (>10kb) Multiome | 836 | |
| chr9:127,741,739–127,743,092 | 130.6 kb | Distal (>10kb) Multiome | 367 | |
| chr9:127,754,123–127,755,506 | 143.1 kb | Distal (>10kb) Multiome | 279 | |
| chr9:127,770,807–127,771,925 | 159.2 kb | Distal (>10kb) Multiome | 550 | |
| chr9:127,784,682–127,787,009 | 174.3 kb | Distal (>10kb) Multiome | 858 | |
| chr9:127,802,385–127,803,632 | 190.7 kb | Distal (>10kb) Multiome | 867 | |
| chr9:127,809,338–127,810,272 | 197.6 kb | Distal (>10kb) Multiome | 276 | |
| chr9:127,825,222–127,826,046 | 213.4 kb | Distal (>10kb) Multiome | 451 | |
| chr9:127,828,234–127,829,024 | 216.3 kb | Distal (>10kb) Multiome | 521 | |
| chr9:127,877,282–127,878,202 | 265.5 kb | Distal (>10kb) Multiome | 531 | |
| chr9:127,897,316–127,897,796 | 285.2 kb | Distal (>10kb) Multiome | 437 | |
| chr9:127,898,861–127,900,094 | 287.3 kb | Distal (>10kb) Multiome | 630 |
Genomic view of the STXBP1 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.