LAPTM5

History

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

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 tenuous

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

References

1. Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L, ICGC MMML-Seq consortium, ICGC DE-Mining consortium, BLUEPRINT consortium, Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002–2016. PMCID: PMC8257491