Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]
Transcription factors with Perturb-seq knockdown data for NEFH. 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 = NEFH 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 NEFH, 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 |
|---|---|---|---|---|
| chr22:29,205,602–29,206,473 | 274.2 kb | Distal (>10kb) Multiome | 378 | |
| chr22:29,267,574–29,268,917 | 212.1 kb | Distal (>10kb) Multiome | 969 | |
| chr22:29,304,664–29,307,808 | 173.3 kb | Distal (>10kb) Multiome | 839 | |
| chr22:29,313,065–29,313,784 | 166.9 kb | Distal (>10kb) Multiome | 274 | |
| chr22:29,315,074–29,316,064 | 164.6 kb | Distal (>10kb) Multiome | 242 | |
| chr22:29,388,161–29,388,971 | 91.6 kb | Distal (>10kb) Multiome | 740 | |
| chr22:29,431,916–29,432,715 | 47.9 kb | Distal (>10kb) Multiome | 14 | |
| chr22:29,470,132–29,470,844 | 9.8 kb | Proximal (<10kb) Multiome | 437 | |
| chr22:29,480,003–29,481,437 | 834 bp | At TSS Multiome | 384 | |
| chr22:29,553,345–29,553,988 | 73.5 kb | Distal (>10kb) Multiome | 837 | |
| chr22:29,580,084–29,581,520 | 100.9 kb | Distal (>10kb) Multiome | 856 | |
| chr22:29,603,006–29,604,162 | 123.3 kb | Distal (>10kb) Multiome | 803 | |
| chr22:29,766,399–29,767,654 | 286.9 kb | Distal (>10kb) Multiome | 837 |
Genomic view of the NEFH 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.