ANKRD17

The variants reported in this gene in DLBCL failed QC

History

Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.1 Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2017-10-10 : Reddy : DLBCL

Relevance tier by entity

Entity Tier Description
DLBCL 2 relevance in DLBCL not firmly established1

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 2.68
DLBCL Schmitz cohort 4.26
DLBCL Reddy cohort 3.80
DLBCL Chapuy cohort 2.14

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 2.047 8.897
DLBCL No No 1.492 4.437
FL No No 0.000 0.000

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

ANKRD17 Expression

Representative Mutations1

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All Mutations1

Reddy_1016T Reddy_2045T Reddy_2144T Reddy_2153T Reddy_2262T Reddy_2297T Reddy_2471T Reddy_2479T Reddy_2534T Reddy_2567T Reddy_2616T Reddy_2629T Reddy_2635T Reddy_2658T Reddy_2675T Reddy_2715T Reddy_2775T Reddy_2791T Reddy_2808T Reddy_2820T Reddy_2827T Reddy_2838T Reddy_2936T Reddy_2999T Reddy_3407T Reddy_3409T Reddy_3419T Reddy_3438T Reddy_3472T Reddy_3525T Reddy_3545T Reddy_3549T Reddy_3552T Reddy_3584T Reddy_3631T Reddy_3667T Reddy_3691T Reddy_3700T Reddy_3709T Reddy_3715T Reddy_3725T Reddy_3819T Reddy_3883T Reddy_3885T Reddy_3896T Reddy_3913T Reddy_3916T Reddy_3924T Reddy_3943T Reddy_3945T Reddy_3952T Reddy_3977T Reddy_705T

References

1.
Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481–494.e15. PMCID: PMC5659841