Table of Contents

Overview

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.

Relevance tier by entity

Entity Tier Description
DLBCL 1 High-confidence DLBCL gene
FL 1 High-confidence FL gene
MZL 2 Role of HIST1H1D mutations in MZL requires confirmation
PMBL 2 Role of HIST1H1D mutations in PMBL requires confirmation

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 67 0.0615 [0.0473,0.0758]
DLBCL GAMBL with Reddy 2,088 128 0.0613 [0.051,0.0716]
DLBCL BC 231 14 0.0606 [0.0298,0.0914]
DLBCL Dana-Farber 303 19 0.0627 [0.0354,0.09]
DLBCL NCI 470 27 0.0574 [0.0364,0.0785]
DLBCL Reddy 999 61 0.0611 [0.0462,0.0759]
DLBCL DLBCL_ICGC 85 7 0.0824 [0.0239,0.1408]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 8 0.0036 [0,0.0103]
BL GAMBL without ICGC/Zhou 320 12 0.0374 [0.0166,0.0583]
BL GAMBL with Panea 410 12 0.0047 [0,0.0112]
BL BLGSP 219 8 0.0365 [0.0117,0.0614]
BL Zhou/ICGC 90 0 0.0011 [0,0.008]
BL Panea 101 4 0.0396 [0.0016,0.0776]

FL

pathology Collection N mutated Incidence CI
FL GAMBL without Crouch 642 16 0.0249 [0.0129,0.037]
FL GAMBL with Crouch 1,189 40 0.0336 [0.0234,0.0439]
FL BC 379 9 0.0237 [0.0084,0.0391]
FL Kalmbach 164 4 0.0244 [8e-04,0.048]
FL Crouch 547 24 0.0439 [0.0267,0.061]
FL FL_ICGC 99 3 0.0303 [0,0.0641]

Mutation pattern and selective pressure estimates

Entity Missense dN/dS Nonsense dN/dS Q value
BL 4.2893 0.0000 1.0000
FL 4.2043 11.8807 0.6242
DLBCL 2.0377 1.8084 0.0022

Visualizations

Protein

View coding variants in ProteinPaint hg19 or hg38

Genome

View all variants in GenomePaint hg19 or hg38

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References

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References

1.
Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992
2.
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
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Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M, Staiger AM, Wala JA, Ducar MD, Leshchiner I, Rheinbay E, Taylor-Weiner A, Coughlin CA, Hess JM, Pedamallu CS, Livitz D, Rosebrock D, Rosenberg M, Tracy AA, Horn H, van Hummelen P, Feldman AL, Link BK, Novak AJ, Cerhan JR, Habermann TM, Siebert R, Rosenwald A, Thorner AR, Meyerson ML, Golub TR, Beroukhim R, Wulf GG, Ott G, Rodig SJ, Monti S, Neuberg DS, Loeffler M, Pfreundschuh M, Trümper L, Getz G, Shipp MA. Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat Med. 2018 May;24(5):679–690. PMCID: PMC6613387
4.
Jallades L, Baseggio L, Sujobert P, Huet S, Chabane K, Callet-Bauchu E, Verney A, Hayette S, Desvignes JP, Salgado D, Levy N, Béroud C, Felman P, Berger F, Magaud JP, Genestier L, Salles G, Traverse-Glehen A. Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma. Haematologica. 2017 Oct;102(10):1758–1766. PMCID: PMC5622860

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