This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for NELFA. 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 = NELFA 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 NELFA, 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 |
|---|---|---|---|---|
| chr4:1,711,443–1,713,255 | 296.4 kb | Distal (>10kb) Multiome | 1043 | |
| chr4:1,720,066–1,721,937 | 287.7 kb | Distal (>10kb) Multiome | 817 | |
| chr4:1,746,068–1,746,713 | 262.6 kb | Distal (>10kb) Multiome | 499 | |
| chr4:1,748,435–1,748,986 | 260.2 kb | Distal (>10kb) Multiome | 420 | |
| chr4:1,766,230–1,768,653 | 241.6 kb | Distal (>10kb) Multiome | 781 | |
| chr4:1,792,302–1,795,939 | 215.8 kb | Distal (>10kb) Multiome | 784 | |
| chr4:1,809,836–1,810,515 | 198.8 kb | Distal (>10kb) Multiome | 554 | |
| chr4:1,855,368–1,857,225 | 152.7 kb | Distal (>10kb) Multiome | 849 | |
| chr4:1,870,118–1,872,300 | 137.9 kb | Distal (>10kb) Multiome | 962 | |
| chr4:2,008,507–2,010,125 | 239 bp | At TSS Multiome | 1040 | |
| chr4:2,041,030–2,042,663 | 33.0 kb | Distal (>10kb) Multiome | 554 | |
| chr4:2,058,181–2,059,492 | 50.2 kb | Distal (>10kb) Multiome | 367 | |
| chr4:2,060,701–2,061,398 | 52.1 kb | Distal (>10kb) Multiome | 197 | |
| chr4:2,241,509–2,242,666 | 233.3 kb | Distal (>10kb) Multiome | 783 | |
| chr4:2,261,141–2,263,069 | 253.4 kb | Distal (>10kb) Multiome | 806 |
Genomic view of the NELFA 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.