The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for SEM1. 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 = SEM1 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 SEM1, 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 |
|---|---|---|---|---|
| chr7:96,591,576–96,592,853 | 117.9 kb | Distal (>10kb) Multiome | 120 | |
| chr7:96,701,296–96,701,484 | 8.4 kb | Proximal (<10kb) | 89 | |
| chr7:96,709,174–96,710,229 | 72 bp | At TSS Multiome | 787 | |
| chr7:96,719,262–96,719,435 | 9.4 kb | Proximal (<10kb) | 20 | |
| chr7:96,992,387–96,993,486 | 283.4 kb | Distal (>10kb) Multiome | 216 | |
| chr7:97,001,603–97,002,708 | 292.2 kb | Distal (>10kb) Multiome | 161 | |
| chr7:97,005,154–97,007,514 | 295.6 kb | Distal (>10kb) Multiome | 699 |
Genomic view of the SEM1 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.