Armadillo Repeat gene deleted in Velo-Cardio-Facial syndrome (ARVCF) is a member of the catenin family. This family plays an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell. The ARVCF gene was isolated in the search for the genetic defect responsible for the autosomal dominant Velo-Cardio-Facial syndrome (VCFS), a relatively common human disorder with phenotypic features including cleft palate, conotruncal heart defects and facial dysmorphology. The ARVCF gene encodes a protein containing two motifs, a coiled coil domain in the N-terminus and a 10 armadillo repeat sequence in the midregion. Since these sequences can facilitate protein-protein interactions ARVCF is thought to function in a protein complex. In addition, ARVCF contains a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein. [provided by RefSeq, Jun 2010]
Transcription factors with Perturb-seq knockdown data for ARVCF. 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 = ARVCF 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 ARVCF, 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 |
|---|---|---|---|---|
| chr22:19,717,840–19,718,731 | 298.6 kb | Distal (>10kb) Multiome | 592 | |
| chr22:19,723,413–19,724,584 | 292.6 kb | Distal (>10kb) Multiome | 572 | |
| chr22:19,730,516–19,731,296 | 285.9 kb | Distal (>10kb) Multiome | 743 | |
| chr22:19,765,840–19,766,429 | 250.7 kb | Distal (>10kb) Multiome | 174 | |
| chr22:19,854,381–19,855,705 | 161.9 kb | Distal (>10kb) Multiome | 1014 | |
| chr22:19,891,576–19,892,031 | 125.1 kb | Distal (>10kb) Multiome | 631 | |
| chr22:19,959,058–19,959,828 | 57.3 kb | Distal (>10kb) Multiome | 576 | |
| chr22:19,962,339–19,962,798 | 54.3 kb | Distal (>10kb) Multiome HiCAR | 442 | |
| chr22:19,986,350–19,987,426 | 29.7 kb | Distal (>10kb) Multiome | 539 | |
| chr22:20,013,336–20,013,713 | 3.1 kb | Proximal (<10kb) | 310 | |
| chr22:20,016,068–20,017,437 | 25 bp | At TSS Multiome | 640 | |
| chr22:20,020,662–20,021,745 | 4.2 kb | Proximal (<10kb) Multiome | 718 | |
| chr22:20,079,663–20,080,743 | 63.3 kb | Distal (>10kb) Multiome | 994 | |
| chr22:20,116,628–20,118,048 | 100.5 kb | Distal (>10kb) Multiome | 999 | |
| chr22:20,130,806–20,131,896 | 114.4 kb | Distal (>10kb) Multiome | 525 | |
| chr22:20,203,393–20,204,086 | 187.0 kb | Distal (>10kb) Multiome | 292 | |
| chr22:20,243,636–20,244,300 | 227.2 kb | Distal (>10kb) Multiome | 251 | |
| chr22:20,267,373–20,268,700 | 251.6 kb | Distal (>10kb) Multiome | 449 | |
| chr22:20,298,366–20,300,076 | 282.3 kb | Distal (>10kb) Multiome | 538 |
Genomic view of the ARVCF 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.