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HIST1H2AM
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
2019-09-26 : Panea : BL
Entity | Tier | Description |
---|---|---|
1 | high-confidence DLBCL gene | |
1 | high-confidence FL gene | |
2 | relevance in BL not firmly established |
Entity | source | frequency (%) |
---|---|---|
DLBCL | GAMBL genomes | 5.93 |
DLBCL | Schmitz cohort | 5.74 |
DLBCL | Reddy cohort | 4.80 |
DLBCL | Chapuy cohort | 5.98 |
FL | GAMBL genomes | 3.70 |
BL | GAMBL genomes+capture | 1.85 |
BL | Thomas cohort | 1.70 |
BL | Panea cohort | 3.00 |
Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
---|---|---|---|---|
DLBCL | No | No | 1.844 | 0 |
FL | No | No | 1.845 | 0 |
BL | No | No | 2.149 | 0 |
Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
---|---|---|---|
chr6 | 27860660 | T>C | N90D |
chr6 | 27860658 | G>C | N90K |
chr6 | 27860652 | C>G | E92D |
chr6 | 27860652 | C>A | E92D |
chr6 | 27860649 | C>G | E93D |
chr6 | 27860648 | G>C | L94V |
chr6 | 27860648 | G>A | L94F |
chr6 | 27860644 | T>C | N95S |
chr6 | 27860643 | G>C | N95K |
chr6 | 27860640 | C>G | K96N |
chr6 | 27860640 | C>A | K96N |
chr6 | 27860639 | G>C | L97V |
chr6 | 27860636 | G>C | L98V |
chr6 | 27860636 | G>A | L98F |
chr6 | 27860633 | C>G | G99R |
chr6 | 27860632 | C>G | G99A |
chr6 | 27860627 | C>G | V101L |
chr6 | 27860627 | C>T | V101I |
chr6 | 27860627 | C>A | V101F |
chr6 | 27860624 | T>A | T102S |
chr6 | 27860623 | G>C | T102S |
chr6 | 27860623 | G>A | T102I |
chr6 | 27860560 | C>G | S123T |
chr6 | 27860559 | G>C | S123R |
chr6 | 27860549 | C>G | A127P |
chr6 | 27860548 | G>C | A127G |
chr6 | 27860548 | G>A | A127V |
chr6 | 27860542 | C>T | G129D |
chr6 | 27860538 | C>G | K130N |
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- 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
- Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019;
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