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HIST1H2BC
This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations.
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timeline
title Publication timing
2017-01-26 : Krysiak : FL
2017-10-10 : Reddy : DLBCL
2019-09-05 : Mottok : PMBL
Entity | Tier | Description |
---|---|---|
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2 | relevance in PMBL/cHL/GZL not firmly established[@mottokIntegrativeGenomicAnalysis2019b] |
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1 | high-confidence DLBCL gene[@lohrDiscoveryPrioritizationSomatic2012a] |
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1 | high-confidence FL gene [@krysiakRecurrentSomaticMutations2017b] |
Entity | source | frequency (%) |
---|---|---|
DLBCL | GAMBL genomes | 4.59 |
DLBCL | Schmitz cohort | 5.53 |
DLBCL | Reddy cohort | 4.30 |
DLBCL | Chapuy cohort | 5.56 |
FL | GAMBL genomes | 3.46 |
Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
---|---|---|---|---|
BL | No | No | 2.806 | 35.161 |
DLBCL | No | No | 1.712 | 0.000 |
FL | No | No | 1.094 | 0.000 |
Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
---|---|---|---|
chr6 | 26123951 | C>T | G61D |
chr6 | 26123944 | C>T | M63I |
chr6 | 26123939 | G>A | S65F |
chr6 | 26123939 | G>C | S65C |
chr6 | 26123924 | A>G | I70T |
chr6 | 26123923 | T>C | I70M |
chr6 | 26123922 | A>C | F71V |
chr6 | 26123920 | A>C | F71L |
chr6 | 26123919 | C>G | E72Q |
chr6 | 26123919 | C>T | E72K |
chr6 | 26123917 | C>G | E72D |
chr6 | 26123916 | G>C | R73G |
chr6 | 26123916 | G>A | R73C |
chr6 | 26123915 | C>T | R73H |
chr6 | 26123904 | C>T | E77K |
chr6 | 26123903 | T>C | E77G |
chr6 | 26123901 | C>T | A78T |
chr6 | 26123901 | C>A | A78S |
chr6 | 26123900 | G>A | A78V |
chr6 | 26123886 | G>A | H83Y |
chr6 | 26123881 | G>C | Y84* |
chr6 | 26123874 | G>A | R87C |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
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