The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for VPS13A. 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 = VPS13A 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 VPS13A, 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 |
|---|---|---|---|---|
| chr9:76,905,420–76,906,943 | 271.2 kb | Distal (>10kb) Multiome | 534 | |
| chr9:77,011,944–77,012,817 | 165.3 kb | Distal (>10kb) Multiome | 473 | |
| chr9:77,015,830–77,017,016 | 161.1 kb | Distal (>10kb) Multiome | 167 | |
| chr9:77,018,024–77,021,113 | 158.7 kb | Distal (>10kb) Multiome | 262 | |
| chr9:77,038,220–77,038,935 | 139.0 kb | Distal (>10kb) Multiome | 155 | |
| chr9:77,128,274–77,128,777 | 48.9 kb | Distal (>10kb) Multiome | 81 | |
| chr9:77,175,266–77,175,428 | 2.1 kb | Proximal (<10kb) | 24 | |
| chr9:77,176,705–77,178,700 | 157 bp | At TSS Multiome | 914 |
Genomic view of the VPS13A 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.