This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]
Transcription factors with Perturb-seq knockdown data for C12orf4. 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 = C12orf4 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 C12orf4, 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 |
|---|---|---|---|---|
| chr12:4,268,849–4,270,098 | 269.0 kb | Distal (>10kb) Multiome | 487 | |
| chr12:4,270,854–4,273,281 | 266.3 kb | Distal (>10kb) Multiome | 648 | |
| chr12:4,273,341–4,274,316 | 264.7 kb | Distal (>10kb) Multiome | 459 | |
| chr12:4,276,737–4,277,243 | 261.4 kb | Distal (>10kb) Multiome | 453 | |
| chr12:4,307,615–4,308,315 | 230.5 kb | Distal (>10kb) Multiome | 391 | |
| chr12:4,320,509–4,321,663 | 217.4 kb | Distal (>10kb) Multiome | 743 | |
| chr12:4,441,229–4,442,210 | 96.7 kb | Distal (>10kb) Multiome | 241 | |
| chr12:4,538,204–4,539,165 | 256 bp | At TSS Multiome | 740 | |
| chr12:4,562,041–4,562,555 | 23.8 kb | Distal (>10kb) Multiome | 486 | |
| chr12:4,604,713–4,605,166 | 66.4 kb | Distal (>10kb) Multiome | 580 | |
| chr12:4,648,527–4,649,423 | 110.6 kb | Distal (>10kb) Multiome | 645 | |
| chr12:4,720,395–4,720,946 | 182.3 kb | Distal (>10kb) Multiome | 69 | |
| chr12:4,809,137–4,810,290 | 270.9 kb | Distal (>10kb) Multiome | 246 |
Genomic view of the C12orf4 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.