This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Transcription factors with Perturb-seq knockdown data for NSUN5. 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 = NSUN5 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 NSUN5, 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 |
|---|---|---|---|---|
| chr7:73,154,498–73,155,039 | 154.0 kb | Distal (>10kb) Multiome | 171 | |
| chr7:73,308,581–73,308,991 | at TSS | At TSS | 715 | |
| chr7:73,324,142–73,324,594 | 15.5 kb | Distal (>10kb) Multiome | 226 | |
| chr7:73,423,745–73,424,470 | 115.3 kb | Distal (>10kb) Multiome | 298 | |
| chr7:73,433,411–73,434,685 | 125.0 kb | Distal (>10kb) Multiome HiCAR | 614 | |
| chr7:73,521,449–73,522,945 | 213.6 kb | Distal (>10kb) Multiome | 977 | |
| chr7:73,556,852–73,558,145 | 248.5 kb | Distal (>10kb) Multiome | 1080 | |
| chr7:73,578,111–73,579,357 | 270.0 kb | Distal (>10kb) Multiome | 765 |
Genomic view of the NSUN5 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.