HVCN1
Overview
HVCN1, a voltage-gated proton channel, has been identified as recurrently mutated in follicular lymphoma and mutations also appear in some DLBCL.1 HVCN1 mutations disrupt its normal function, affecting B-cell receptor (BCR) signaling pathways.1 This gene has some recurrent sites of mutations (hot spots) but the function of these mutations is not well understood. The mutation pattern in DLBCL and FL implies the preferential accumulation of inactivating mutations.
History
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timeline
title Publication timing
2017-01-26 : Krysiak : FL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence DLBCL gene |
 |
1 | high-confidence FL gene1 |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Cannot include /DLBCL_HVCN1.md - does not exist yet
Cannot include /FL_HVCN1.md - does not exist yet
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| DLBCL | No | Yes | 7.172 | 47.127 |
| FL | No | Yes | 16.103 | 259.368 |
| BL | No | No | 2.588 | 0.000 |
HVCN1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr12 | 111099150 | T>G | Y42S |
| chr12 | 111099150 | T>C | Y42C |
| chr12 | 111099142 | A>T | W45R |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
HVCN1 Expression
References
1.
Krysiak K, Gomez F, White BS, Matlock M, Miller
CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR,
Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA.
Recurrent somatic mutations affecting B-cell
receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan
26;129(4):473–483. PMCID: PMC5270390