The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]
Transcription factors with Perturb-seq knockdown data for XRCC4. 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 = XRCC4 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 XRCC4, 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 |
|---|---|---|---|---|
| chr5:82,854,030–82,855,714 | 222.5 kb | Distal (>10kb) Multiome | 176 | |
| chr5:82,973,736–82,974,831 | 103.4 kb | Distal (>10kb) Multiome | 113 | |
| chr5:83,025,464–83,027,597 | 50.5 kb | Distal (>10kb) Multiome | 445 | |
| chr5:83,076,893–83,078,174 | 118 bp | At TSS Multiome | 808 | |
| chr5:83,177,626–83,178,521 | 100.3 kb | Distal (>10kb) Multiome | 101 | |
| chr5:83,354,732–83,355,974 | 277.6 kb | Distal (>10kb) Multiome | 327 | |
| chr5:83,470,946–83,472,020 | 393.8 kb | Distal (>10kb) Multiome HiCAR | 379 | |
| chr5:83,472,395–83,475,303 | 397.0 kb | Distal (>10kb) Multiome HiCAR | 827 |
Genomic view of the XRCC4 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.