This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009]
Transcription factors with Perturb-seq knockdown data for WASHC5. 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 = WASHC5 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 WASHC5, 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 |
|---|---|---|---|---|
| chr8:124,830,627–124,831,574 | 260.7 kb | Distal (>10kb) Multiome | 135 | |
| chr8:124,908,848–124,909,459 | 182.5 kb | Distal (>10kb) Multiome | 23 | |
| chr8:124,963,890–124,964,452 | 127.6 kb | Distal (>10kb) Multiome | 165 | |
| chr8:124,973,135–124,973,609 | 118.4 kb | Distal (>10kb) Multiome | 684 | |
| chr8:124,997,595–124,999,115 | 93.4 kb | Distal (>10kb) Multiome | 836 | |
| chr8:125,091,367–125,092,149 | 21 bp | At TSS Multiome | 874 | |
| chr8:125,333,917–125,334,658 | 242.7 kb | Distal (>10kb) Multiome | 599 | |
| chr8:125,386,297–125,387,506 | 295.2 kb | Distal (>10kb) Multiome | 453 | |
| chr8:125,388,382–125,388,991 | 296.9 kb | Distal (>10kb) Multiome | 153 | |
| chr8:125,429,082–125,432,504 | 338.3 kb | Distal (>10kb) Multiome HiCAR | 1185 | |
| chr8:125,540,867–125,541,751 | 449.5 kb | Distal (>10kb) Multiome HiCAR | 267 | |
| chr8:125,548,995–125,549,682 | 457.6 kb | Distal (>10kb) Multiome HiCAR | 19 |
Genomic view of the WASHC5 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.