This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for EIF4H. 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 = EIF4H 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 EIF4H, 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 |
|---|---|---|---|---|
| chr7:73,885,944–73,886,823 | 288.0 kb | Distal (>10kb) Multiome | 480 | |
| chr7:74,026,698–74,027,309 | 147.4 kb | Distal (>10kb) Multiome | 294 | |
| chr7:74,067,853–74,068,319 | 106.3 kb | Distal (>10kb) Multiome HiCAR | 359 | |
| chr7:74,082,928–74,085,020 | 90.6 kb | Distal (>10kb) Multiome HiCAR | 602 | |
| chr7:74,094,257–74,095,257 | 79.5 kb | Distal (>10kb) Multiome | 409 | |
| chr7:74,173,712–74,175,040 | 75 bp | At TSS Multiome | 927 | |
| chr7:74,206,458–74,207,053 | 32.4 kb | Distal (>10kb) Multiome | 436 | |
| chr7:74,253,979–74,254,920 | 80.1 kb | Distal (>10kb) Multiome | 943 | |
| chr7:74,269,798–74,270,278 | 95.7 kb | Distal (>10kb) Multiome | 527 | |
| chr7:74,282,776–74,283,619 | 108.7 kb | Distal (>10kb) Multiome | 157 | |
| chr7:74,284,675–74,285,215 | 110.6 kb | Distal (>10kb) Multiome | 204 | |
| chr7:74,288,851–74,289,933 | 115.1 kb | Distal (>10kb) Multiome | 529 | |
| chr7:74,371,455–74,372,279 | 197.5 kb | Distal (>10kb) Multiome | 234 | |
| chr7:74,453,330–74,454,656 | 279.5 kb | Distal (>10kb) Multiome | 596 |
Genomic view of the EIF4H 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.