This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]
Transcription factors with Perturb-seq knockdown data for ETFDH. 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 = ETFDH 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 ETFDH, 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 |
|---|---|---|---|---|
| chr4:158,571,551–158,572,520 | 100.2 kb | Distal (>10kb) Multiome | 128 | |
| chr4:158,667,559–158,668,106 | 4.0 kb | Proximal (<10kb) | 130 | |
| chr4:158,670,728–158,672,956 | 1.3 kb | Proximal (<10kb) Multiome | 1090 | |
| chr4:158,722,797–158,723,912 | 51.2 kb | Distal (>10kb) Multiome | 859 | |
| chr4:158,768,346–158,769,735 | 96.7 kb | Distal (>10kb) Multiome | 747 | |
| chr4:158,782,620–158,783,783 | 110.8 kb | Distal (>10kb) Multiome | 413 | |
| chr4:158,902,258–158,903,267 | 230.5 kb | Distal (>10kb) Multiome | 354 |
Genomic view of the ETFDH 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.