This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Transcription factors with Perturb-seq knockdown data for MTRFR. 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 = MTRFR 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 MTRFR, 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 |
|---|---|---|---|---|
| chr12:122,965,963–122,966,953 | 266.8 kb | Distal (>10kb) Multiome | 576 | |
| chr12:122,974,115–122,975,704 | 258.5 kb | Distal (>10kb) Multiome | 889 | |
| chr12:122,980,138–122,981,155 | 252.7 kb | Distal (>10kb) Multiome HiCAR | 817 | |
| chr12:123,049,639–123,050,104 | 183.6 kb | Distal (>10kb) Multiome | 45 | |
| chr12:123,150,285–123,151,740 | 82.3 kb | Distal (>10kb) Multiome | 487 | |
| chr12:123,232,511–123,233,923 | 213 bp | At TSS Multiome | 1073 | |
| chr12:123,269,375–123,269,864 | 36.3 kb | Distal (>10kb) Multiome | 217 | |
| chr12:123,270,951–123,272,226 | 37.9 kb | Distal (>10kb) Multiome | 488 | |
| chr12:123,363,804–123,365,980 | 131.7 kb | Distal (>10kb) Multiome | 1015 | |
| chr12:123,383,367–123,384,963 | 150.6 kb | Distal (>10kb) Multiome | 836 | |
| chr12:123,388,500–123,389,409 | 155.5 kb | Distal (>10kb) Multiome | 446 | |
| chr12:123,436,072–123,436,895 | 203.3 kb | Distal (>10kb) Multiome | 742 | |
| chr12:123,458,045–123,458,697 | 225.0 kb | Distal (>10kb) Multiome | 925 | |
| chr12:123,583,890–123,585,003 | 351.1 kb | Distal (>10kb) Multiome HiCAR | 928 |
Genomic view of the MTRFR 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.