This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for VPS13B. 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 = VPS13B 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 VPS13B, 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 |
|---|---|---|---|---|
| chr8:98,825,100–98,826,604 | 187.3 kb | Distal (>10kb) Multiome | 692 | |
| chr8:98,939,766–98,942,896 | 72.1 kb | Distal (>10kb) Multiome | 801 | |
| chr8:98,944,134–98,945,767 | 68.9 kb | Distal (>10kb) Multiome | 736 | |
| chr8:98,947,167–98,948,851 | 65.3 kb | Distal (>10kb) Multiome | 160 | |
| chr8:98,951,052–98,951,938 | 61.7 kb | Distal (>10kb) Multiome | 211 | |
| chr8:98,972,223–98,972,842 | 40.8 kb | Distal (>10kb) Multiome | 201 | |
| chr8:98,973,362–98,974,798 | 38.8 kb | Distal (>10kb) Multiome | 321 | |
| chr8:99,012,513–99,013,978 | 40 bp | At TSS Multiome | 985 |
Genomic view of the VPS13B 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.