HIST1H1C - morinlab/LLMPP GitHub Wiki


bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

HIST1H1C

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.

<<Warn("The variants reported in BL in this gene failed QC")>>

See below or the study page for more information

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
      2011-07-27 : Morin : DLBCL
      2019-09-26 : Panea : BL
Loading

Relevance tier by entity

Entity Tier Description
PMBL 1 high-confidence PMBL/cHL/GZL gene
DLBCL 1 high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011]
FL 1 high-confidence FL gene [@morinFrequentMutationHistonemodifying2011]
BL 3 Retired, Failed QC[@paneaWholeGenomeLandscape2019]]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 4.85
BL Thomas cohort 3.80
BL Panea cohort 9.90
DLBCL GAMBL genomes 9.94
DLBCL Schmitz cohort 9.79
DLBCL Reddy cohort 9.41
DLBCL Chapuy cohort 12.39
FL GAMBL genomes 5.08

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 10.205 0
DLBCL No Yes 9.354 0
FL No No 4.446 0

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

Representative Mutations

BL3

Rating ★ ★ ★ ★ ☆

Rating ★ ☆ ☆ ☆ ☆

References

⚠️ **GitHub.com Fallback** ⚠️