| General information | Literature | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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|---|---|
Gene ID | 63035 |
Name | BCORL1 |
Synonymous | BCoR-L1|CXorf10;BCL6 corepressor-like 1;BCORL1;BCL6 corepressor-like 1 |
Definition | BCL-6 corepressor-like protein 1|BCoR-like protein 1 |
Position | Xq25-q26.1 |
Gene type | protein-coding |
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Title |
Abstract |
| Somatic mutations in the transcriptional corepressor gene BCORL1 in adult acute myelogenous leukemia. | To further our understanding of the genetic basis of acute myelogenous leukemia (AML), we determined the coding exon sequences of approximately 18 000 protein-encoding genes in 8 patients with secondary AML. Here we report the discovery of novel somatic mutations in the transcriptional corepressor gene BCORL1 that is located on the X-chromosome. Analysis of BCORL1 in an unselected cohort of 173 AML patients identified a total of 10 mutated cases (6%) with BCORL1 mutations, whereas analysis of 19 AML cell lines uncovered 4 (21%) BCORL1 mutated cell lines. The majority (87%) of the mutations in BCORL1 were predicted to inactivate the gene product as a result of nonsense mutations, splice site mutation, or out-of-frame insertions or deletions. These results indicate that BCORL1 by genetic criteria is a novel candidate tumor suppressor gene, joining the growing list of genes recurrently mutated in AML. |