This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for TUFM. 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 = TUFM 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 TUFM, 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 |
|---|---|---|---|---|
| chr16:28,553,780–28,554,756 | 292.2 kb | Distal (>10kb) Multiome | 995 | |
| chr16:28,822,471–28,824,789 | 22.2 kb | Distal (>10kb) Multiome | 1145 | |
| chr16:28,845,867–28,847,117 | 160 bp | At TSS Multiome | 995 | |
| chr16:28,863,149–28,864,223 | 17.2 kb | Distal (>10kb) Multiome | 996 | |
| chr16:28,879,620–28,880,509 | 33.6 kb | Distal (>10kb) Multiome | 559 | |
| chr16:28,923,986–28,926,025 | 78.6 kb | Distal (>10kb) Multiome | 1053 | |
| chr16:28,936,364–28,936,885 | 90.3 kb | Distal (>10kb) Multiome | 419 | |
| chr16:28,945,417–28,946,070 | 99.4 kb | Distal (>10kb) Multiome | 916 | |
| chr16:28,950,343–28,951,586 | 104.5 kb | Distal (>10kb) Multiome | 797 | |
| chr16:28,974,026–28,975,195 | 128.3 kb | Distal (>10kb) Multiome | 996 |
Genomic view of the TUFM 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.