MCL1
MCL1 (Myeloid Cell Leukemia 1) is a member of the BCL2 family of proteins that play a critical role in inhibiting apoptosis. It is frequently overexpressed and sometimes mutated in DLBCL.1,2 MCL1 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus.
| Entity | Tier | Description |
|---|---|---|
| BL | 2-a | aSHM target; Although recurrent, the relevance of mutations in BL is tenuous |
| DLBCL | 1-a | aSHM target and high-confidence DLBCL gene |
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 1.85 |
| BL | Thomas cohort | 2.10 |
| BL | Panea cohort | 2.00 |
| DLBCL | GAMBL genomes | 2.49 |
| DLBCL | Schmitz cohort | 3.62 |
| DLBCL | Reddy cohort | 4.70 |
| DLBCL | Chapuy cohort | 3.42 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 5.101 | 0.000 |
| DLBCL | Yes | No | 0.427 | 2.401 |
| FL | Yes | No | 0.000 | 0.000 |
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr1 | 150550814 | 150552135 | intron | NA |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
- Wenzel, S., Grau, M., Mavis, C., Hailfinger, S., Wolf, A., Madle, H., Deeb, G., Dörken, B., Thome, M., Lenz, P., Dirnhofer, S., Hernandez-Ilizaliturri, F., Tzankov, A., & Lenz, G. (2013). MCL1 is deregulated in subgroups of diffuse large B-cell lymphoma. Leukemia, 27, 1381-1390. https://doi.org/10.1038/leu.2012.367.
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