This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Transcription factors with Perturb-seq knockdown data for C12orf57. 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 = C12orf57 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 C12orf57, 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 |
|---|---|---|---|---|
| chr12:6,662,802–6,663,663 | 280.8 kb | Distal (>10kb) Multiome | 868 | |
| chr12:6,688,517–6,690,027 | 254.6 kb | Distal (>10kb) Multiome | 943 | |
| chr12:6,699,959–6,700,887 | 243.6 kb | Distal (>10kb) Multiome | 263 | |
| chr12:6,723,658–6,724,773 | 219.9 kb | Distal (>10kb) Multiome | 1065 | |
| chr12:6,752,554–6,754,332 | 190.5 kb | Distal (>10kb) Multiome | 975 | |
| chr12:6,763,677–6,764,983 | 179.6 kb | Distal (>10kb) Multiome | 570 | |
| chr12:6,765,172–6,767,791 | 177.7 kb | Distal (>10kb) Multiome | 824 | |
| chr12:6,768,329–6,769,331 | 174.9 kb | Distal (>10kb) Multiome | 249 | |
| chr12:6,778,736–6,779,459 | 165.0 kb | Distal (>10kb) Multiome | 777 | |
| chr12:6,821,268–6,822,155 | 122.3 kb | Distal (>10kb) Multiome | 299 | |
| chr12:6,825,458–6,825,915 | 118.3 kb | Distal (>10kb) Multiome | 404 | |
| chr12:6,828,101–6,829,966 | 114.4 kb | Distal (>10kb) Multiome | 689 | |
| chr12:6,851,017–6,853,279 | 91.7 kb | Distal (>10kb) Multiome | 966 | |
| chr12:6,866,801–6,870,175 | 76.5 kb | Distal (>10kb) Multiome | 887 | |
| chr12:6,871,062–6,874,199 | 71.7 kb | Distal (>10kb) Multiome HiCAR | 947 | |
| chr12:6,890,735–6,891,820 | 52.8 kb | Distal (>10kb) Multiome | 908 | |
| chr12:6,904,217–6,905,282 | 39.2 kb | Distal (>10kb) Multiome | 566 | |
| chr12:6,914,274–6,914,898 | 29.6 kb | Distal (>10kb) Multiome | 536 | |
| chr12:6,924,156–6,924,592 | 19.5 kb | Distal (>10kb) Multiome | 458 | |
| chr12:6,925,828–6,926,431 | 18.0 kb | Distal (>10kb) Multiome HiCAR | 407 | |
| chr12:6,927,411–6,928,051 | 16.2 kb | Distal (>10kb) Multiome HiCAR | 493 | |
| chr12:6,936,709–6,938,342 | 6.0 kb | Proximal (<10kb) Multiome HiCAR | 1008 | |
| chr12:6,942,356–6,945,492 | 180 bp | At TSS Multiome | 1205 | |
| chr12:6,945,587–6,947,099 | 2.4 kb | Proximal (<10kb) Multiome | 618 | |
| chr12:6,961,769–6,963,542 | 19.2 kb | Distal (>10kb) Multiome | 682 | |
| chr12:6,964,932–6,965,569 | 21.2 kb | Distal (>10kb) Multiome | 549 | |
| chr12:6,970,111–6,971,189 | 26.7 kb | Distal (>10kb) Multiome | 899 | |
| chr12:7,018,028–7,019,126 | 74.7 kb | Distal (>10kb) Multiome | 824 | |
| chr12:7,108,059–7,109,582 | 165.3 kb | Distal (>10kb) Multiome HiCAR | 818 | |
| chr12:7,129,788–7,131,412 | 186.3 kb | Distal (>10kb) Multiome | 619 | |
| chr12:7,188,394–7,190,508 | 244.5 kb | Distal (>10kb) Multiome | 769 | |
| chr12:8,026,338–8,027,323 | 1082.9 kb | Distal (>10kb) Multiome HiCAR | 935 |
Genomic view of the C12orf57 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.