HNRNPH1
Non-coding mutations, including synonymous and intronic mutations, are enriched at splicing signals in exon 4 of HNRNPH1.
The common HNRNPH1 mutations cause deregulated splicing and increased expression of the hnRNP H1 protein. This overexpression is linked to enhanced cell proliferation and survival, contributing to the aggressive nature of MCL.[@pararajalingamCodingNoncodingDrivers2020] Although initially characterized in MCL, the same pattern of mutations appears in a small number of DLBCLs.
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timeline
title Publication timing
2020-07-30 : Pararajalingam : MCL
| Entity | Tier | Description |
|---|---|---|
 |
2-EE | high-confidence DLBCL gene[@pararajalingamCodingNoncodingDrivers2020] |
 |
1-EE | high-confidence MCL gene [@pararajalingamCodingNoncodingDrivers2020] |
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 2.10 |
| DLBCL | Schmitz cohort | 3.19 |
| DLBCL | Reddy cohort | 1.40 |
| DLBCL | Chapuy cohort | 3.42 |
| MCL | GAMBL genomes | 3.79 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | No | 1.573 | 0.000 |
| DLBCL | No | No | 2.337 | 10.139 |
| FL | No | No | 0.000 | 0.000 |
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr5 | 179046407 | C>A | G133= |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
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