This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]
Transcription factors with Perturb-seq knockdown data for SPG7. 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 = SPG7 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 SPG7, 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 |
|---|---|---|---|---|
| chr16:89,200,493–89,202,260 | 288.9 kb | Distal (>10kb) Multiome | 598 | |
| chr16:89,217,337–89,217,960 | 273.0 kb | Distal (>10kb) Multiome | 857 | |
| chr16:89,240,678–89,241,104 | 249.7 kb | Distal (>10kb) Multiome | 864 | |
| chr16:89,246,875–89,247,970 | 243.2 kb | Distal (>10kb) Multiome | 740 | |
| chr16:89,290,889–89,291,526 | 199.6 kb | Distal (>10kb) Multiome HiCAR | 171 | |
| chr16:89,360,791–89,361,256 | 129.7 kb | Distal (>10kb) Multiome HiCAR | 194 | |
| chr16:89,473,854–89,474,466 | 16.5 kb | Distal (>10kb) Multiome | 213 | |
| chr16:89,489,154–89,489,850 | 1.4 kb | Proximal (<10kb) Multiome | 596 | |
| chr16:89,490,254–89,491,281 | 15 bp | At TSS Multiome | 817 | |
| chr16:89,507,395–89,509,159 | 17.6 kb | Distal (>10kb) Multiome | 987 | |
| chr16:89,560,298–89,561,204 | 70.0 kb | Distal (>10kb) Multiome | 1030 | |
| chr16:89,564,633–89,566,356 | 75.2 kb | Distal (>10kb) Multiome | 894 | |
| chr16:89,574,359–89,574,949 | 84.0 kb | Distal (>10kb) Multiome | 373 | |
| chr16:89,657,432–89,658,521 | 167.1 kb | Distal (>10kb) Multiome | 859 | |
| chr16:89,686,359–89,687,641 | 196.1 kb | Distal (>10kb) Multiome | 1006 | |
| chr16:89,699,933–89,702,566 | 211.3 kb | Distal (>10kb) Multiome | 1079 | |
| chr16:89,711,278–89,712,334 | 221.1 kb | Distal (>10kb) Multiome | 443 | |
| chr16:89,720,440–89,722,486 | 230.7 kb | Distal (>10kb) Multiome | 1048 |
Genomic view of the SPG7 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.