HIST1H1E - morinlab/LLMPP GitHub Wiki
This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.1,2 Mutations are often found in the globular domain of the protein, which is critical for its interaction with DNA and other histone proteins.
Mutations in this gene were first described in DLBCL in 2013 by Morin et al.3 Mutations were subsequently reported in FL in 2017 by Krysiak et al4 and in BL by Grande et al.5
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timeline
title Publication timing
2013-08-15 : Morin : DLBCL
2015-02-12 : Reichel : PMBL
2017-01-26 : Krysiak : FL
2019-03-21 : Grande : BL
| Entity | Tier | Description |
|---|---|---|
 |
1 | high-confidence PMBL/cHL/GZL gene[@reichelFlowSortingExome2015a] |
 |
1 | high-confidence DLBCL gene [@lohrDiscoveryPrioritizationSomatic2012a] |
 |
1 | high-confidence FL gene [@krysiakRecurrentSomaticMutations2017b] |
 |
2 | relevance in BL not firmly established[@grandeGenomewideDiscoverySomatic2019] |
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 9.70 |
| BL | Thomas cohort | 7.60 |
| BL | Panea cohort | 19.80 |
| DLBCL | GAMBL genomes | 18.55 |
| DLBCL | Schmitz cohort | 17.87 |
| DLBCL | Reddy cohort | 14.51 |
| DLBCL | Chapuy cohort | 11.54 |
| FL | GAMBL genomes | 12.93 |
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | Yes | 14.203 | 0.000 |
| DLBCL | No | Yes | 4.446 | 6.437 |
| FL | No | Yes | 10.043 | 0.000 |
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 26157090 | G>T | A158S |
| chr6 | 26157096 | A>C | K160Q |
| chr6 | 26157096 | A>G | K160E |
| chr6 | 26157099 | C>G | P161A |
| chr6 | 26157099 | C>T | P161S |
| chr6 | 26157102 | G>A | A162T |
| chr6 | 26157105 | G>A | A163T |
| chr6 | 26157106 | C>T | A163V |
| chr6 | 26157108 | G>A | A164T |
| chr6 | 26157108 | G>C | A164P |
| chr6 | 26157109 | C>G | A164G |
| chr6 | 26157109 | C>T | A164V |
| chr6 | 26157112 | C>G | A165G |
| chr6 | 26157112 | C>T | A165V |
| chr6 | 26157114 | G>A | G166R |
| chr6 | 26157118 | C>T | A167V |
| chr6 | 26157121 | A>T | K168I |
| chr6 | 26157139 | A>G | K174R |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
