This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Transcription factors with Perturb-seq knockdown data for C19orf12. 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 = C19orf12 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 C19orf12, 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 |
|---|---|---|---|---|
| chr19:29,528,180–29,529,621 | 186.6 kb | Distal (>10kb) Multiome | 401 | |
| chr19:29,529,766–29,530,718 | 184.9 kb | Distal (>10kb) Multiome | 175 | |
| chr19:29,605,720–29,606,615 | 109.0 kb | Distal (>10kb) Multiome | 901 | |
| chr19:29,610,433–29,610,904 | 104.5 kb | Distal (>10kb) Multiome | 320 | |
| chr19:29,665,021–29,667,200 | 49.8 kb | Distal (>10kb) Multiome | 621 | |
| chr19:29,714,800–29,715,683 | 28 bp | At TSS Multiome | 726 | |
| chr19:29,716,398–29,716,840 | 1.2 kb | Proximal (<10kb) | 463 | |
| chr19:29,724,045–29,724,626 | 9.1 kb | Proximal (<10kb) Multiome | 189 | |
| chr19:29,759,946–29,760,434 | 45.0 kb | Distal (>10kb) Multiome | 502 | |
| chr19:29,811,175–29,812,847 | 96.6 kb | Distal (>10kb) Multiome | 705 | |
| chr19:29,843,949–29,845,909 | 129.7 kb | Distal (>10kb) Multiome | 804 | |
| chr19:29,872,251–29,872,744 | 157.1 kb | Distal (>10kb) Multiome HiCAR | 90 | |
| chr19:29,872,961–29,874,087 | 158.4 kb | Distal (>10kb) Multiome HiCAR | 469 | |
| chr19:29,941,860–29,942,984 | 227.1 kb | Distal (>10kb) Multiome | 766 |
Genomic view of the C19orf12 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.