Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]
Transcription factors with Perturb-seq knockdown data for SETD2. 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 = SETD2 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 SETD2, 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 |
|---|---|---|---|---|
| chr3:46,881,541–46,883,129 | 282.2 kb | Distal (>10kb) Multiome | 257 | |
| chr3:46,892,261–46,893,159 | 271.3 kb | Distal (>10kb) Multiome | 297 | |
| chr3:46,909,425–46,910,035 | 254.2 kb | Distal (>10kb) Multiome | 394 | |
| chr3:46,948,015–46,948,666 | 215.6 kb | Distal (>10kb) Multiome | 529 | |
| chr3:46,976,068–46,977,401 | 187.1 kb | Distal (>10kb) Multiome | 857 | |
| chr3:46,979,117–46,980,211 | 184.2 kb | Distal (>10kb) Multiome | 777 | |
| chr3:46,987,364–46,988,143 | 176.3 kb | Distal (>10kb) Multiome | 452 | |
| chr3:46,998,405–46,998,990 | 165.2 kb | Distal (>10kb) Multiome | 400 | |
| chr3:47,008,983–47,010,119 | 154.4 kb | Distal (>10kb) Multiome | 328 | |
| chr3:47,024,824–47,025,334 | 138.8 kb | Distal (>10kb) Multiome | 51 | |
| chr3:47,163,333–47,164,907 | 228 bp | At TSS Multiome | 981 | |
| chr3:47,281,636–47,283,234 | 118.8 kb | Distal (>10kb) Multiome | 941 | |
| chr3:47,380,120–47,381,966 | 217.0 kb | Distal (>10kb) Multiome | 1058 |
Genomic view of the SETD2 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.