Table of Contents

Relevance tier by entity

Entity Tier Description
DLBCL 2 Role of PIK3CD mutations in DLBCL requires confirmation

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 3.82
DLBCL Schmitz cohort 4.89
DLBCL Reddy cohort 2.50
DLBCL Chapuy cohort 2.14

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 2.9145 0 1.0000
FL 0.8589 0 1.0000
DLBCL 0.0000 0 0.9986

PIK3CD Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr1 9787030 G>A E1021K
chr1 9787040 G>A R1024H
chr1 9787043 A>G E1025G
Structure with HotMAPS hotspots

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

All Mutations

Reddy_2141T Reddy_2153T Reddy_2158T Reddy_2161T Reddy_2162T Reddy_2247T Reddy_2263T Reddy_2273T Reddy_2448T Reddy_2449T Reddy_2606T Reddy_2626T Reddy_2632T Reddy_2684T Reddy_2709T Reddy_2719T Reddy_2766T Reddy_2776T Reddy_2777T Reddy_2781T Reddy_2806T Reddy_2815T Reddy_2884T Reddy_2886T Reddy_2899T Reddy_2915T Reddy_2934T Reddy_2951T Reddy_2952T Reddy_2995T Reddy_3382T Reddy_3386T Reddy_3396T Reddy_3398T Reddy_3429T Reddy_3431T Reddy_3432T Reddy_3444T Reddy_3447T Reddy_3451T Reddy_3454T Reddy_3458T Reddy_3460T Reddy_3464T Reddy_3496T Reddy_3505T Reddy_3523T Reddy_3528T Reddy_3580T Reddy_3582T Reddy_3597T Reddy_3603T Reddy_3638T Reddy_3662T Reddy_3683T Reddy_3819T Reddy_3900T Reddy_3911T Reddy_3914T Reddy_3927T Reddy_3948T Reddy_3960T Reddy_3974T

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2013-01-01 : Zhang : DLBCL

References

1.
Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. Proceedings of the National Academy of Sciences of the United States of America. 2013;110:1398–1403. PMCID: PMC3557051

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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