Table of Contents
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 |
|---|---|---|
| 1 | High-confidence BL gene | |
| 1 | High-confidence DLBCL gene | |
| 1 | High-confidence FL gene | |
| 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
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