This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Transcription factors with Perturb-seq knockdown data for DEPDC5. 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 = DEPDC5 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 DEPDC5, 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 |
|---|---|---|---|---|
| chr22:31,489,111–31,490,354 | 264.2 kb | Distal (>10kb) Multiome | 819 | |
| chr22:31,496,060–31,496,942 | 257.6 kb | Distal (>10kb) Multiome | 769 | |
| chr22:31,630,284–31,631,283 | 123.2 kb | Distal (>10kb) Multiome | 643 | |
| chr22:31,661,894–31,662,649 | 91.8 kb | Distal (>10kb) Multiome | 791 | |
| chr22:31,676,686–31,677,164 | 77.2 kb | Distal (>10kb) Multiome | 294 | |
| chr22:31,749,600–31,750,546 | 3.9 kb | Proximal (<10kb) Multiome | 850 | |
| chr22:31,752,977–31,754,325 | 105 bp | At TSS Multiome | 854 | |
| chr22:31,943,414–31,945,454 | 190.3 kb | Distal (>10kb) Multiome | 807 | |
| chr22:31,969,969–31,971,124 | 216.6 kb | Distal (>10kb) Multiome | 601 |
Genomic view of the DEPDC5 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.