Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]
Transcription factors with Perturb-seq knockdown data for OBSL1. 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 = OBSL1 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 OBSL1, 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 |
|---|---|---|---|---|
| chr2:219,252,908–219,254,656 | 317.2 kb | Distal (>10kb) Multiome | 808 | |
| chr2:219,277,516–219,280,537 | 291.9 kb | Distal (>10kb) Multiome | 1073 | |
| chr2:219,294,524–219,295,391 | 276.3 kb | Distal (>10kb) Multiome | 892 | |
| chr2:219,308,224–219,309,089 | 262.9 kb | Distal (>10kb) Multiome | 742 | |
| chr2:219,386,994–219,389,117 | 183.0 kb | Distal (>10kb) Multiome | 911 | |
| chr2:219,402,761–219,403,203 | 168.2 kb | Distal (>10kb) Multiome | 234 | |
| chr2:219,418,154–219,419,089 | 152.5 kb | Distal (>10kb) Multiome | 147 | |
| chr2:219,433,920–219,435,459 | 137.1 kb | Distal (>10kb) Multiome | 315 | |
| chr2:219,441,439–219,442,557 | 129.3 kb | Distal (>10kb) Multiome | 338 | |
| chr2:219,447,946–219,449,531 | 122.4 kb | Distal (>10kb) Multiome | 244 | |
| chr2:219,476,330–219,477,528 | 94.5 kb | Distal (>10kb) Multiome | 373 | |
| chr2:219,484,139–219,485,299 | 86.3 kb | Distal (>10kb) Multiome | 146 | |
| chr2:219,497,658–219,499,313 | 72.5 kb | Distal (>10kb) Multiome | 907 | |
| chr2:219,506,707–219,507,641 | 64.1 kb | Distal (>10kb) Multiome | 205 | |
| chr2:219,509,036–219,510,612 | 61.1 kb | Distal (>10kb) Multiome | 614 | |
| chr2:219,521,083–219,521,760 | 49.8 kb | Distal (>10kb) Multiome | 325 | |
| chr2:219,522,621–219,523,337 | 48.2 kb | Distal (>10kb) Multiome | 201 | |
| chr2:219,525,558–219,526,393 | 45.2 kb | Distal (>10kb) Multiome | 321 | |
| chr2:219,530,046–219,530,655 | 40.9 kb | Distal (>10kb) Multiome | 480 | |
| chr2:219,541,583–219,542,284 | 29.4 kb | Distal (>10kb) Multiome | 764 | |
| chr2:219,542,939–219,544,543 | 27.3 kb | Distal (>10kb) Multiome | 981 | |
| chr2:219,551,360–219,553,449 | 18.7 kb | Distal (>10kb) Multiome | 785 | |
| chr2:219,560,304–219,560,858 | 7.9 kb | Proximal (<10kb) | 175 | |
| chr2:219,562,026–219,562,254 | 9.6 kb | Proximal (<10kb) | 114 | |
| chr2:219,565,305–219,565,875 | 5.4 kb | Proximal (<10kb) | 110 | |
| chr2:219,570,096–219,572,421 | 384 bp | At TSS Multiome | 948 | |
| chr2:219,576,865–219,577,306 | 5.6 kb | Proximal (<10kb) | 602 | |
| chr2:219,597,186–219,598,527 | 26.8 kb | Distal (>10kb) Multiome | 955 | |
| chr2:219,627,103–219,628,325 | 56.5 kb | Distal (>10kb) Multiome | 315 | |
| chr2:219,642,343–219,643,046 | 71.4 kb | Distal (>10kb) Multiome | 686 | |
| chr2:219,684,717–219,685,631 | 114.0 kb | Distal (>10kb) Multiome | 403 | |
| chr2:219,851,082–219,852,434 | 280.2 kb | Distal (>10kb) Multiome | 229 |
Genomic view of the OBSL1 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.