HNF1B
History
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timeline
title Publication timing
2011-07-31 : Pasqualucci : DLBCL
## Relevance
tier by entity
| Entity | Tier | Description |
|---|---|---|
| 2 | relevance in DLBCL not firmly established |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 0.19 |
| DLBCL | Schmitz cohort | 2.55 |
| DLBCL | Reddy cohort | 0.30 |
| DLBCL | Chapuy cohort | 0.85 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 0.000 | 0 |
| DLBCL | No | No | 0.000 | 0 |
| FL | No | No | 2.652 | 0 |
[!NOTE] First described in DLBCL in 2011 by Pasqualucci L
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## HNF1B
Expression
## References 1.
Pasqualucci L, Trifonov V, Fabbri G, Ma J, Rossi D, Chiarenza A, Wells
VA, Grunn A, Messina M, Elliot O, Chan J, Bhagat G, Chadburn A, Gaidano
G, Mullighan CG, Rabadan R, Dalla-Favera R. Analysis of the coding
genome of diffuse large B-cell lymphoma. Nat Genet. 2011 Jul
31;43(9):830–837. PMCID: PMC3297422


