The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]
Transcription factors with Perturb-seq knockdown data for EHMT1. 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 = EHMT1 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 EHMT1, 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 |
|---|---|---|---|---|
| chr9:137,406,843–137,407,556 | 211.9 kb | Distal (>10kb) Multiome | 427 | |
| chr9:137,422,664–137,424,024 | 195.7 kb | Distal (>10kb) Multiome | 896 | |
| chr9:137,441,270–137,441,970 | 177.4 kb | Distal (>10kb) Multiome | 568 | |
| chr9:137,453,153–137,455,543 | 165.0 kb | Distal (>10kb) Multiome | 727 | |
| chr9:137,458,468–137,459,887 | 159.6 kb | Distal (>10kb) Multiome | 613 | |
| chr9:137,461,555–137,462,160 | 157.1 kb | Distal (>10kb) Multiome | 284 | |
| chr9:137,551,136–137,552,512 | 67.2 kb | Distal (>10kb) Multiome | 756 | |
| chr9:137,578,523–137,579,553 | 40.1 kb | Distal (>10kb) Multiome | 910 | |
| chr9:137,589,526–137,591,323 | 28.4 kb | Distal (>10kb) Multiome | 623 | |
| chr9:137,604,440–137,607,003 | 13.6 kb | Distal (>10kb) Multiome | 675 | |
| chr9:137,618,064–137,619,880 | 58 bp | At TSS Multiome | 867 | |
| chr9:137,665,796–137,665,970 | 1.0 kb | Proximal (<10kb) | 42 | |
| chr9:137,666,942–137,667,345 | at TSS | At TSS | 108 | |
| chr9:137,676,627–137,676,844 | 9.6 kb | Proximal (<10kb) | 126 | |
| chr9:137,723,975–137,724,439 | 105.2 kb | Distal (>10kb) Multiome | 115 | |
| chr9:137,732,255–137,733,025 | 113.7 kb | Distal (>10kb) Multiome | 20 | |
| chr9:137,851,599–137,852,229 | 232.9 kb | Distal (>10kb) Multiome | 104 | |
| chr9:137,876,903–137,879,307 | 258.6 kb | Distal (>10kb) Multiome | 452 |
Genomic view of the EHMT1 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.