LAPTM5
History
Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.1
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timeline
title Publication timing
2021-05-05 : Hübschmann : FL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous | |
| 2-a | aSHM target; Although recurrent, the relevance of mutations in FL is tenuoushubschmannMutationalMechanismsShaping2021b? |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 3.06 |
| DLBCL | Schmitz cohort | 3.40 |
| DLBCL | Reddy cohort | 2.20 |
| DLBCL | Chapuy cohort | 2.56 |
| FL | GAMBL genomes | 5.77 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 0.000 | 34.096 |
| DLBCL | Yes | No | 4.311 | 46.640 |
| FL | Yes | Yes | 15.566 | 93.829 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr1 | 31229012 | 31232011 | TSS | NA |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
LAPTM5 Expression
All Mutations
SP194065 SP116642 SP194216 SP193040 SP193656 SP116709


