LAPTM5 - morinlab/LLMPP GitHub Wiki


bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

LAPTM5

History

Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.1

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
      2021-05-05 : Hübschmann : FL
Loading

Relevance tier by entity

Entity Tier Description
DLBCL 2-a aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous
FL 2-a aSHM target; Although recurrent, the relevance of mutations in FL is tenuous [@hubschmannMutationalMechanismsShaping2021b]

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

References

⚠️ **GitHub.com Fallback** ⚠️