EHD1 - morinlab/LLMPP GitHub Wiki


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

EHD1

Relevance tier by entity

Entity Tier Description
BL 2 relevance in BL not firmly established[@thomasGeneticSubgroupsInform2023]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 1.39
BL Thomas cohort 0.00
BL Panea cohort 5.90

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 0.000 0.000
DLBCL No No 2.422 16.476
FL No No 2.540 0.000

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

EHD1 Expression

References