This is a paternally expressed imprinted gene that is thought to have been derived from the Ty3/Gypsy family of retrotransposons. It contains two overlapping open reading frames, RF1 and RF2, and expresses two proteins: a shorter, gag-like protein (with a CCHC-type zinc finger domain) from RF1; and a longer, gag/pol-like fusion protein (with an additional aspartic protease motif) from RF1/RF2 by -1 translational frameshifting (-1 FS). While -1 FS has been observed in RNA viruses and transposons in both prokaryotes and eukaryotes, this gene represents the first example of -1 FS in a eukaryotic cellular gene. This gene is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC) and pseudoknot elements required for -1 FS. It is expressed in adult and embryonic tissues (most notably in placenta) and reported to have a role in cell proliferation, differentiation and apoptosis. Overexpression of this gene has been associated with several malignancies, such as hepatocellular carcinoma and B-cell lymphocytic leukemia. Knockout mice lacking this gene showed early embryonic lethality with placental defects, indicating the importance of this gene in embryonic development. Additional isoforms resulting from alternatively spliced transcript variants, and use of upstream non-AUG (CUG) start codon have been reported for this gene. [provided by RefSeq, Oct 2014]
Transcription factors with Perturb-seq knockdown data for PEG10. 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 = PEG10 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 PEG10, 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 |
|---|---|---|---|---|
| chr7:94,374,301–94,375,925 | 280.9 kb | Distal (>10kb) Multiome | 250 | |
| chr7:94,393,359–94,395,729 | 261.7 kb | Distal (>10kb) Multiome | 479 | |
| chr7:94,509,249–94,510,982 | 146.3 kb | Distal (>10kb) Multiome | 908 | |
| chr7:94,517,104–94,518,155 | 138.4 kb | Distal (>10kb) Multiome | 58 | |
| chr7:94,647,408–94,647,584 | 8.7 kb | Proximal (<10kb) | 10 | |
| chr7:94,655,105–94,659,080 | 1.9 kb | Proximal (<10kb) Multiome | 828 | |
| chr7:94,907,116–94,909,189 | 251.4 kb | Distal (>10kb) Multiome | 825 | |
| chr7:94,933,384–94,934,161 | 277.4 kb | Distal (>10kb) Multiome | 199 |
Genomic view of the PEG10 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.