The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for RBM28. 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 = RBM28 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 RBM28, 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 |
|---|---|---|---|---|
| chr7:128,135,262–128,136,731 | 207.9 kb | Distal (>10kb) Multiome | 652 | |
| chr7:128,166,496–128,169,100 | 175.1 kb | Distal (>10kb) Multiome | 559 | |
| chr7:128,200,949–128,201,858 | 142.5 kb | Distal (>10kb) Multiome | 168 | |
| chr7:128,235,091–128,235,888 | 108.3 kb | Distal (>10kb) Multiome | 40 | |
| chr7:128,266,969–128,267,714 | 76.5 kb | Distal (>10kb) Multiome | 395 | |
| chr7:128,298,870–128,299,537 | 44.6 kb | Distal (>10kb) Multiome | 53 | |
| chr7:128,343,565–128,344,079 | 16 bp | At TSS Multiome | 1136 | |
| chr7:128,350,941–128,352,858 | 8.4 kb | Proximal (<10kb) Multiome | 308 | |
| chr7:128,360,334–128,361,049 | 16.9 kb | Distal (>10kb) Multiome | 282 | |
| chr7:128,361,158–128,362,317 | 17.9 kb | Distal (>10kb) Multiome | 459 | |
| chr7:128,381,074–128,381,660 | 37.5 kb | Distal (>10kb) Multiome HiCAR | 156 | |
| chr7:128,387,606–128,388,141 | 44.0 kb | Distal (>10kb) Multiome HiCAR | 289 | |
| chr7:128,405,316–128,406,560 | 62.2 kb | Distal (>10kb) Multiome | 559 | |
| chr7:128,409,174–128,410,630 | 66.1 kb | Distal (>10kb) Multiome | 740 | |
| chr7:128,454,251–128,454,939 | 110.7 kb | Distal (>10kb) Multiome | 220 | |
| chr7:128,455,301–128,456,353 | 112.0 kb | Distal (>10kb) Multiome | 875 | |
| chr7:128,476,406–128,477,319 | 132.9 kb | Distal (>10kb) Multiome | 616 | |
| chr7:128,530,813–128,532,054 | 187.4 kb | Distal (>10kb) Multiome | 421 |
Genomic view of the RBM28 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.