HVCN1.md
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# HVCN1
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## Overview
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-HVCN1, a voltage-gated proton channel, has been identified as recurrently mutated in follicular lymphoma. HVCN1 mutations disrupt its normal function, affecting B-cell receptor (BCR) signaling pathways.<sup>1</sup>
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+HVCN1, a voltage-gated proton channel, has been identified as recurrently mutated in follicular lymphoma and mutations also appear in some DLBCL.<sup>1</sup> HVCN1 mutations disrupt its normal function, affecting B-cell receptor (BCR) signaling pathways.<sup>1</sup> 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*.
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## Relevance tier by entity
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|Entity|Tier|Description |
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|:------:|:----:|--------------------------------------|
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-|BL |2 |relevance in BL not firmly established|
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|DLBCL |1 |high-confidence DLBCL gene |
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|FL |1 |high-confidence FL gene |
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+|BL |2 |relevance in BL not firmly established|
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## Mutation incidence in large patient cohorts (GAMBL reanalysis)
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|Entity|source |frequency (%)|
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|:------:|:---------------------:|:-------------:|
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-|BL |GAMBL genomes+capture|0.92 |
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-|BL |Thomas cohort |0.80 |
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-|BL |Panea cohort |2.00 |
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|DLBCL |GAMBL genomes |3.06 |
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|DLBCL |Schmitz cohort |1.91 |
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|DLBCL |Reddy cohort |2.30 |
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|DLBCL |Chapuy cohort |3.42 |
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|FL |GAMBL genomes |6.47 |
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+|BL |GAMBL genomes+capture|0.92 |
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+|BL |Thomas cohort |0.80 |
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+|BL |Panea cohort |2.00 |
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## Mutation pattern and selective pressure estimates
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|Entity|aSHM|Significant selection|dN/dS (missense)|dN/dS (nonsense)|
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|:------:|:----:|:---------------------:|:----------------:|:----------------:|
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-|BL |No |No | 2.588 | 0.000 |
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|DLBCL |No |Yes | 7.172 | 47.127 |
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|FL |No |Yes |16.103 |259.368 |
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+|BL |No |No | 2.588 | 0.000 |
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