The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Transcription factors with Perturb-seq knockdown data for MKS1. 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 = MKS1 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 MKS1, 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 |
|---|---|---|---|---|
| chr17:57,926,939–57,927,538 | 292.1 kb | Distal (>10kb) Multiome | 259 | |
| chr17:57,954,427–57,955,892 | 263.9 kb | Distal (>10kb) Multiome | 612 | |
| chr17:57,987,092–57,989,001 | 230.9 kb | Distal (>10kb) Multiome | 1036 | |
| chr17:58,006,337–58,008,268 | 211.7 kb | Distal (>10kb) Multiome | 1147 | |
| chr17:58,082,555–58,084,952 | 135.9 kb | Distal (>10kb) Multiome | 835 | |
| chr17:58,156,945–58,157,756 | 62.0 kb | Distal (>10kb) Multiome | 235 | |
| chr17:58,218,800–58,219,654 | 52 bp | At TSS Multiome | 890 | |
| chr17:58,249,147–58,250,121 | 30.5 kb | Distal (>10kb) Multiome | 737 | |
| chr17:58,324,153–58,325,169 | 105.3 kb | Distal (>10kb) Multiome | 274 | |
| chr17:58,338,012–58,338,430 | 118.9 kb | Distal (>10kb) Multiome | 559 | |
| chr17:58,339,009–58,339,515 | 120.0 kb | Distal (>10kb) Multiome | 382 | |
| chr17:58,351,751–58,352,762 | 133.1 kb | Distal (>10kb) Multiome | 990 | |
| chr17:58,487,466–58,488,518 | 268.6 kb | Distal (>10kb) Multiome | 222 | |
| chr17:58,513,911–58,515,157 | 295.4 kb | Distal (>10kb) Multiome | 585 | |
| chr17:58,517,239–58,519,377 | 298.8 kb | Distal (>10kb) Multiome | 1140 |
Genomic view of the MKS1 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.