This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for PMS1. 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 = PMS1 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 PMS1, 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 |
|---|---|---|---|---|
| chr2:189,505,054–189,507,201 | 278.8 kb | Distal (>10kb) Multiome | 396 | |
| chr2:189,580,171–189,582,155 | 203.6 kb | Distal (>10kb) Multiome | 892 | |
| chr2:189,660,922–189,661,904 | 123.1 kb | Distal (>10kb) Multiome | 868 | |
| chr2:189,673,963–189,675,142 | 109.9 kb | Distal (>10kb) Multiome | 910 | |
| chr2:189,762,270–189,763,426 | 21.7 kb | Distal (>10kb) Multiome | 951 | |
| chr2:189,783,493–189,785,050 | 108 bp | At TSS Multiome | 1120 | |
| chr2:189,879,173–189,881,360 | 96.2 kb | Distal (>10kb) Multiome | 252 | |
| chr2:189,960,017–189,961,026 | 176.0 kb | Distal (>10kb) Multiome | 65 |
Genomic view of the PMS1 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.