Table of Contents
Overview
Mutations in this gene were first described in DLBCL in 2021 by Hübschmann et al.1
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | Role of ANKRD12 mutations in DLBCL requires confirmation |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 2.29 |
| DLBCL | Schmitz cohort | 6.17 |
| DLBCL | Reddy cohort | 2.10 |
| DLBCL | Chapuy cohort | 5.13 |
Mutation pattern and selective pressure estimates
| Entity | Missense dN/dS | Nonsense dN/dS | Q value |
|---|---|---|---|
| BL | 2.0467 | 0 | 1.0000 |
| FL | 1.4076 | 0 | 1.0000 |
| DLBCL | 0.0000 | 0 | 0.9986 |
Visualizations
Protein
View coding variants in ProteinPaint hg19 or hg38
Genome
View all variants in GenomePaint hg19 or hg38
Expression
All Mutations1
SP193744 SP116697 SP116726 SP193467 SP193681 SP194035 SP193375
History
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timeline
title Publication timing
2021-05-05 : Hübschmann : DLBCL
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


