PIK3R1
The variants reported in this gene in BL failed QC
See below or the study page for more information
History
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timeline
title Publication timing
2013-01-01 : Zhang : DLBCL
2019-09-26 : Panea : BL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2-F | Failed QC1 |
 |
2 | relevance in DLBCL not firmly established2 |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 3.00 |
| BL | Thomas cohort | 2.50 |
| BL | Panea cohort | 4.00 |
| DLBCL | GAMBL genomes | 1.91 |
| DLBCL | Schmitz cohort | 2.13 |
| DLBCL | Reddy cohort | 2.00 |
| DLBCL | Chapuy cohort | 4.70 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 3.917 | 0.000 |
| DLBCL | No | No | 2.158 | 16.154 |
| FL | No | No | 0.000 | 14.389 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
PIK3R1 Expression
Representative Mutations
DLBCL1
Rating ★ ★
★ ☆ ☆
BL2
Rating ★ ☆
☆ ☆ ☆
Rating ★ ☆
☆ ☆ ☆
References
1.
Panea R, Love C, Shingleton JR, Reddy A, Bailey
J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N,
Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles
R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung
R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop
A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S,
Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome
landscape of Burkitt lymphoma subtypes. Blood. 2019;
2.
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