This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]
Transcription factors with Perturb-seq knockdown data for ALMS1. 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 = ALMS1 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 ALMS1, 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 |
|---|---|---|---|---|
| chr2:73,111,353–73,113,710 | 272.9 kb | Distal (>10kb) Multiome | 903 | |
| chr2:73,156,488–73,157,075 | 229.2 kb | Distal (>10kb) Multiome | 419 | |
| chr2:73,175,306–73,176,433 | 210.3 kb | Distal (>10kb) Multiome | 499 | |
| chr2:73,176,845–73,177,711 | 208.5 kb | Distal (>10kb) Multiome | 779 | |
| chr2:73,202,161–73,203,581 | 183.5 kb | Distal (>10kb) Multiome | 227 | |
| chr2:73,214,088–73,214,797 | 171.6 kb | Distal (>10kb) Multiome | 870 | |
| chr2:73,232,770–73,234,882 | 151.5 kb | Distal (>10kb) Multiome | 1129 | |
| chr2:73,268,616–73,269,882 | 116.8 kb | Distal (>10kb) Multiome | 384 | |
| chr2:73,283,511–73,285,190 | 101.4 kb | Distal (>10kb) Multiome | 734 | |
| chr2:73,291,197–73,292,186 | 94.6 kb | Distal (>10kb) Multiome | 609 | |
| chr2:73,293,075–73,294,022 | 92.3 kb | Distal (>10kb) Multiome | 382 | |
| chr2:73,385,262–73,386,724 | 52 bp | At TSS Multiome | 893 |
Genomic view of the ALMS1 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.