Characteristics of BCOR and BCORL1 genes and proteins
| Characteristics . | BCOR gene . | BCORL1 gene . |
|---|---|---|
| Location | Chromosome X (band Xp11.4) | Chromosome X (band Xp26.1) |
| No. of exons | 15 | 13 |
| Associated genetic syndrome | OFCD | Shukla-Vernon (SHUVER) |
| Mutations | Frameshifts, nonsense, and missense* | Frameshifts, nonsense, and missense*,† |
| Translocations | Rare (APL)* | No |
| ITD of PUFD (solid tumors) | Yes | No |
| Characteristics | BCOR protein | BCORL1 protein |
| Length | 1755 amino acids | 1711 amino acids |
| Subcellular location | Nucleosol and nuclear dots of various size | Speckle-like nuclear dots of consistent size |
| Major protein domains | BCL6-binding domain, PUFD motif, MLLT3-binding domain Tandem ankyrin repeats | CtBP1-binding site, PUFD motif, 2 LXXLL motifs, tandem ankyrin repeats |
| PUFD motif | Disordered | Ordered |
| Function | Transcriptional corepressor | Transcriptional corepressor |
| Interactors | BCL6, HDACs class I and II, MLLT3, FXBL10/JHDM1B, MLLT1/ENI, ZBTB5, SP1, ZBTB2, ZBTB7A/Pokemon, PCGF1, RING1A/B KDM2D | HDACs class I and II, CTBP1, PCGF1 |
| Characteristics . | BCOR gene . | BCORL1 gene . |
|---|---|---|
| Location | Chromosome X (band Xp11.4) | Chromosome X (band Xp26.1) |
| No. of exons | 15 | 13 |
| Associated genetic syndrome | OFCD | Shukla-Vernon (SHUVER) |
| Mutations | Frameshifts, nonsense, and missense* | Frameshifts, nonsense, and missense*,† |
| Translocations | Rare (APL)* | No |
| ITD of PUFD (solid tumors) | Yes | No |
| Characteristics | BCOR protein | BCORL1 protein |
| Length | 1755 amino acids | 1711 amino acids |
| Subcellular location | Nucleosol and nuclear dots of various size | Speckle-like nuclear dots of consistent size |
| Major protein domains | BCL6-binding domain, PUFD motif, MLLT3-binding domain Tandem ankyrin repeats | CtBP1-binding site, PUFD motif, 2 LXXLL motifs, tandem ankyrin repeats |
| PUFD motif | Disordered | Ordered |
| Function | Transcriptional corepressor | Transcriptional corepressor |
| Interactors | BCL6, HDACs class I and II, MLLT3, FXBL10/JHDM1B, MLLT1/ENI, ZBTB5, SP1, ZBTB2, ZBTB7A/Pokemon, PCGF1, RING1A/B KDM2D | HDACs class I and II, CTBP1, PCGF1 |