This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Transcription factors with Perturb-seq knockdown data for DKC1. 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 = DKC1 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 DKC1, 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 |
|---|---|---|---|---|
| chrX:154,478,385–154,479,590 | 283.7 kb | Distal (>10kb) Multiome | 707 | |
| chrX:154,486,385–154,487,035 | 276.0 kb | Distal (>10kb) Multiome | 437 | |
| chrX:154,490,259–154,491,245 | 272.0 kb | Distal (>10kb) Multiome | 567 | |
| chrX:154,515,811–154,517,059 | 246.4 kb | Distal (>10kb) Multiome | 590 | |
| chrX:154,546,514–154,547,906 | 215.5 kb | Distal (>10kb) Multiome | 691 | |
| chrX:154,762,385–154,763,339 | 21 bp | At TSS Multiome | 675 | |
| chrX:154,805,199–154,805,850 | 42.8 kb | Distal (>10kb) Multiome | 481 | |
| chrX:155,026,631–155,027,442 | 264.2 kb | Distal (>10kb) Multiome | 744 |
Genomic view of the DKC1 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.