This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for SMNDC1. 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 = SMNDC1 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 SMNDC1, 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 |
|---|---|---|---|---|
| chr10:110,006,797–110,009,028 | 297.0 kb | Distal (>10kb) Multiome | 867 | |
| chr10:110,081,755–110,082,396 | 222.8 kb | Distal (>10kb) Multiome | 288 | |
| chr10:110,168,513–110,169,827 | 135.7 kb | Distal (>10kb) Multiome | 325 | |
| chr10:110,181,115–110,182,697 | 123.3 kb | Distal (>10kb) Multiome | 325 | |
| chr10:110,205,984–110,208,438 | 97.3 kb | Distal (>10kb) Multiome | 727 | |
| chr10:110,209,115–110,211,789 | 95.1 kb | Distal (>10kb) Multiome | 928 | |
| chr10:110,225,399–110,227,748 | 78.1 kb | Distal (>10kb) Multiome | 766 | |
| chr10:110,304,286–110,305,616 | 75 bp | At TSS Multiome | 717 | |
| chr10:110,306,234–110,306,428 | 1.3 kb | Proximal (<10kb) | 209 | |
| chr10:110,311,442–110,311,685 | 6.5 kb | Proximal (<10kb) | 204 | |
| chr10:110,324,327–110,325,094 | 19.8 kb | Distal (>10kb) Multiome | 220 | |
| chr10:110,483,548–110,484,272 | 178.9 kb | Distal (>10kb) Multiome | 273 | |
| chr10:110,493,733–110,494,428 | 189.2 kb | Distal (>10kb) Multiome | 112 | |
| chr10:110,497,303–110,499,967 | 192.9 kb | Distal (>10kb) Multiome | 772 | |
| chr10:110,529,265–110,530,944 | 225.4 kb | Distal (>10kb) Multiome HiCAR | 543 | |
| chr10:110,566,581–110,568,626 | 262.6 kb | Distal (>10kb) Multiome HiCAR | 1050 |
Genomic view of the SMNDC1 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.