This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is located among several imprinted genes; however, this gene, as well as the pan-hematopoietic expression gene (PHEMX), escapes imprinting. This gene may play a role in malignancies and disease that involve this region. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Transcription factors with Perturb-seq knockdown data for TSSC4. 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 = TSSC4 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 TSSC4, 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 |
|---|---|---|---|---|
| chr11:2,136,719–2,138,350 | 263.2 kb | Distal (>10kb) Multiome | 445 | |
| chr11:2,151,511–2,152,252 | 248.8 kb | Distal (>10kb) Multiome | 296 | |
| chr11:2,268,914–2,270,615 | 130.6 kb | Distal (>10kb) Multiome | 562 | |
| chr11:2,376,758–2,378,451 | 23.5 kb | Distal (>10kb) Multiome | 432 | |
| chr11:2,399,574–2,401,040 | 231 bp | At TSS Multiome | 1060 | |
| chr11:2,420,598–2,421,164 | 20.1 kb | Distal (>10kb) Multiome | 385 | |
| chr11:2,444,173–2,445,584 | 44.1 kb | Distal (>10kb) Multiome | 280 | |
| chr11:2,532,598–2,533,458 | 132.2 kb | Distal (>10kb) Multiome | 567 | |
| chr11:2,693,272–2,694,189 | 292.8 kb | Distal (>10kb) Multiome | 236 | |
| chr11:2,699,491–2,700,586 | 299.4 kb | Distal (>10kb) Multiome | 879 | |
| chr11:2,928,807–2,931,249 | 528.6 kb | Distal (>10kb) Multiome HiCAR | 770 |
Genomic view of the TSSC4 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.