This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]
Transcription factors with Perturb-seq knockdown data for NSD1. 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 = NSD1 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 NSD1, 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 |
|---|---|---|---|---|
| chr5:176,866,834–176,867,401 | 264.8 kb | Distal (>10kb) Multiome | 90 | |
| chr5:176,938,324–176,938,817 | 193.1 kb | Distal (>10kb) Multiome | 37 | |
| chr5:177,005,819–177,007,175 | 125.1 kb | Distal (>10kb) Multiome | 972 | |
| chr5:177,022,405–177,023,229 | 109.1 kb | Distal (>10kb) Multiome | 767 | |
| chr5:177,083,311–177,083,887 | 48.3 kb | Distal (>10kb) Multiome | 69 | |
| chr5:177,086,049–177,087,797 | 45.0 kb | Distal (>10kb) Multiome | 867 | |
| chr5:177,116,759–177,117,326 | 14.8 kb | Distal (>10kb) Multiome | 369 | |
| chr5:177,124,520–177,124,729 | 7.1 kb | Proximal (<10kb) | 55 | |
| chr5:177,131,498–177,134,721 | 1.8 kb | Proximal (<10kb) Multiome | 724 | |
| chr5:177,303,008–177,304,238 | 171.9 kb | Distal (>10kb) Multiome | 850 | |
| chr5:177,309,549–177,310,172 | 178.0 kb | Distal (>10kb) Multiome | 373 | |
| chr5:177,311,267–177,313,178 | 180.4 kb | Distal (>10kb) Multiome | 798 | |
| chr5:177,351,374–177,352,243 | 220.0 kb | Distal (>10kb) Multiome | 832 | |
| chr5:177,362,756–177,363,624 | 231.4 kb | Distal (>10kb) Multiome | 479 | |
| chr5:177,366,082–177,368,548 | 235.4 kb | Distal (>10kb) Multiome | 626 | |
| chr5:177,370,255–177,371,449 | 239.1 kb | Distal (>10kb) Multiome | 584 | |
| chr5:177,402,327–177,404,671 | 272.6 kb | Distal (>10kb) Multiome | 807 | |
| chr5:177,425,334–177,427,296 | 294.6 kb | Distal (>10kb) Multiome | 982 |
Genomic view of the NSD1 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.