This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]
Transcription factors with Perturb-seq knockdown data for AMPH. 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 = AMPH 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 AMPH, 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 |
|---|---|---|---|---|
| chr7:38,330,757–38,331,521 | 300.3 kb | Distal (>10kb) Multiome | 166 | |
| chr7:38,335,451–38,336,337 | 295.6 kb | Distal (>10kb) Multiome | 492 | |
| chr7:38,367,971–38,368,664 | 263.1 kb | Distal (>10kb) Multiome | 205 | |
| chr7:38,369,681–38,370,425 | 261.3 kb | Distal (>10kb) Multiome | 295 | |
| chr7:38,629,764–38,630,098 | 1.3 kb | Proximal (<10kb) | 19 | |
| chr7:38,630,276–38,630,433 | 986 bp | At TSS | 19 | |
| chr7:38,630,623–38,632,074 | 77 bp | At TSS Multiome | 373 | |
| chr7:38,675,140–38,676,035 | 44.3 kb | Distal (>10kb) Multiome | 91 | |
| chr7:38,908,653–38,909,350 | 277.7 kb | Distal (>10kb) Multiome | 567 |
Genomic view of the AMPH 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.