Overview

Although IGLL5 is significantly mutated, Selective pressure analysis implies the gene is largely under negative selective pressure. It remains unclear whether any of the mutations in IGLL5 are relevant to DLBCL, BL or FL.

Relevance tier by entity

Entity Tier Description
BL 1 High-confidence BL gene
DLBCL 1 High-confidence DLBCL gene
FL 1 High-confidence FL gene
PMBL 2 Role of IGLL5 mutations in PMBL requires confirmation

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 327 0.3003 [0.2731,0.3275]
DLBCL GAMBL with Reddy 2,088 488 0.2337 [0.2156,0.2519]
DLBCL BC 231 85 0.3680 [0.3058,0.4302]
DLBCL Dana-Farber 303 28 0.0924 [0.0598,0.125]
DLBCL NCI 470 169 0.3596 [0.3162,0.403]
DLBCL Reddy 999 161 0.1612 [0.1384,0.184]
DLBCL DLBCL_ICGC 85 45 0.5294 [0.4233,0.6355]
pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 84 0.2484 [0.2013,0.2956]
BL GAMBL without ICGC/Zhou 320 103 0.3219 [0.2707,0.373]
BL GAMBL with Panea 410 116 0.2630 [0.2211,0.3048]
BL BLGSP 219 71 0.3242 [0.2622,0.3862]
BL Zhou/ICGC 90 13 0.1444 [0.0718,0.2171]
BL Panea 101 32 0.3168 [0.2261,0.4076]
pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 213 0.3318 [0.2954,0.3682]
FL GAMBL with Crouch 1,189 213 0.1791 [0.1573,0.2009]
FL BC 379 129 0.3404 [0.2927,0.3881]
FL Kalmbach 164 56 0.3415 [0.2689,0.414]
FL Crouch 547 0 0.0002 [0,0.0013]
FL FL_ICGC 99 28 0.2828 [0.1941,0.3715]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 2.2568 0.8786 0e+00
FL 1.0025 1.4467 8e-04
DLBCL 0.6718 0.5647 0e+00

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr22 23229554 23232042 TSS NA

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

Expression

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2019-08-20 : Desch : PMBL 2019-09-26 : Panea : BL 2023-07-26 : Russler : FL

References

1.
Desch AK, Hartung K, Botzen A, Brobeil A, Rummel M, Kurch L, Georgi T, Jox T, Bielack S, Burdach S, Classen CF, Claviez A, Debatin KM, Ebinger M, Eggert A, Faber J, Flotho C, Frühwald M, Graf N, Jorch N, Kontny U, Kramm C, Kulozik A, Kühr J, Sykora KW, Metzler M, Müller HL, Nathrath M, Nüßlein T, Paulussen M, Pekrun A, Reinhardt D, Reinhard H, Rössig C, Sauerbrey A, Schlegel PG, Schneider DT, Scheurlen W, Schweigerer L, Simon T, Suttorp M, Vorwerk P, Schmitz R, Kluge R, Mauz-Körholz C, Körholz D, Gattenlöhner S, Bräuninger A. Genotyping circulating tumor DNA of pediatric Hodgkin lymphoma. Leukemia. 2020 Jan;34(1):151–166.
2.
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;
3.
Russler-Germain DA, Krysiak K, Ramirez CA, Mosior M, Watkins MP, Gomez F, Skidmore ZL, Trani L, Gao F, Geyer S, Cashen A, Mehta-Shah N, Kahl B, Bartlett N, Alderuccio J, Lossos I, Ondrejka S, Hsi E, Martin P, Leonard J, Griffith M, Griffith O, Fehniger T. Mutations associated with progression in follicular lymphoma predict inferior outcomes at diagnosis: Alliance A151303. Blood Advances. 2023;7:5524–5539.