KLHL21
History
| Entity | Tier | Description |
|---|---|---|
| 2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 3.82 |
| DLBCL | Schmitz cohort | 4.68 |
| DLBCL | Reddy cohort | 2.50 |
| DLBCL | Chapuy cohort | 0.85 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 0.000 | 0 |
| DLBCL | Yes | No | 1.741 | 0 |
| FL | Yes | No | 0.000 | 0 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr1 | 6661482 | 6662702 | TSS | NA |
[!NOTE] First described in DLBCL in 2018 by Schmitz R
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## KLHL21
Expression
## References 1.
Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland
S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y,
Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD,
Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J,
Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran
B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM.
Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J
Med. 2018 Apr 12;378(15):1396–1407. PMCID: PMC6010183

