HVCN1 - morinlab/LLMPP GitHub Wiki
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.
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timeline
title Publication timing
2017-01-26 : Krysiak : FL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence DLBCL gene |
 |
1 | high-confidence FL gene [@krysiakRecurrentSomaticMutations2017b] |
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 3.06 |
| DLBCL | Schmitz cohort | 1.91 |
| DLBCL | Reddy cohort | 2.30 |
| DLBCL | Chapuy cohort | 3.42 |
| FL | GAMBL genomes | 6.47 |
| BL | GAMBL genomes+capture | 0.92 |
| BL | Thomas cohort | 0.80 |
| BL | Panea cohort | 2.00 |
| 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 |
| 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
