This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]
Transcription factors with Perturb-seq knockdown data for RBM8A. 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 = RBM8A 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 RBM8A, 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 |
|---|---|---|---|---|
| chr1:145,707,296–145,708,738 | 219.4 kb | Distal (>10kb) Multiome | 511 | |
| chr1:145,720,881–145,721,650 | 206.2 kb | Distal (>10kb) Multiome | 548 | |
| chr1:145,823,605–145,824,539 | 103.4 kb | Distal (>10kb) Multiome | 899 | |
| chr1:145,845,315–145,846,128 | 81.8 kb | Distal (>10kb) Multiome | 750 | |
| chr1:145,858,348–145,860,193 | 67.5 kb | Distal (>10kb) Multiome | 828 | |
| chr1:145,885,653–145,886,460 | 41.4 kb | Distal (>10kb) Multiome | 327 | |
| chr1:145,891,718–145,892,684 | 35.4 kb | Distal (>10kb) Multiome | 738 | |
| chr1:145,918,087–145,919,947 | 8.6 kb | Proximal (<10kb) Multiome | 724 | |
| chr1:145,926,848–145,927,896 | 10 bp | At TSS Multiome | 890 | |
| chr1:145,932,283–145,933,321 | 5.3 kb | Proximal (<10kb) Multiome | 308 | |
| chr1:145,957,545–145,958,280 | 30.5 kb | Distal (>10kb) Multiome | 631 | |
| chr1:145,960,287–145,961,311 | 33.2 kb | Distal (>10kb) Multiome | 498 | |
| chr1:145,964,302–145,964,971 | 37.1 kb | Distal (>10kb) Multiome | 662 | |
| chr1:145,978,977–145,980,010 | 52.0 kb | Distal (>10kb) Multiome | 689 | |
| chr1:145,996,493–145,997,058 | 69.2 kb | Distal (>10kb) Multiome | 911 | |
| chr1:146,035,364–146,036,312 | 108.2 kb | Distal (>10kb) Multiome | 845 | |
| chr1:146,036,931–146,039,723 | 109.6 kb | Distal (>10kb) Multiome | 1048 | |
| chr1:146,051,092–146,052,696 | 124.7 kb | Distal (>10kb) Multiome | 1182 |
Genomic view of the RBM8A 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.