This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for PAX3. 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 = PAX3 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 PAX3, 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 |
|---|---|---|---|---|
| chr2:222,290,490–222,291,688 | 7.1 kb | Proximal (<10kb) | 286 | |
| chr2:222,294,064–222,294,609 | 4.1 kb | Proximal (<10kb) | 40 | |
| chr2:222,296,886–222,297,182 | 1.6 kb | Proximal (<10kb) | 101 | |
| chr2:222,297,478–222,297,943 | 802 bp | At TSS | 43 | |
| chr2:222,298,259–222,299,344 | at TSS | At TSS | 276 | |
| chr2:222,300,991–222,301,195 | 2.2 kb | Proximal (<10kb) | 29 | |
| chr2:222,301,308–222,301,898 | 2.6 kb | Proximal (<10kb) | 57 | |
| chr2:222,303,419–222,303,592 | 4.7 kb | Proximal (<10kb) | 21 | |
| chr2:222,305,614–222,307,664 | 6.9 kb | Proximal (<10kb) | 248 |
Genomic view of the PAX3 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.