ARVCF
ARVCF delta catenin family member

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]

Biological processes 21 terms
Expression (TPM)
ARVCF — as a Regulated Gene

TFs regulating ARVCF 0 TFs

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.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to ARVCF

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

Genome Browser

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.

chr22:19,707,840 – 20,310,076
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq