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Ryan Morin edited this page Dec 16, 2024 · 19 revisions

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

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

Relevance tier by entity

Entity Tier Description
BL 3 Retired, Failed QC[@loveGeneticLandscapeMutations2012]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 2.77
BL Thomas cohort NA
BL Panea cohort NA

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 1.869 0
DLBCL No No 0.895 0
FL No No 2.138 0

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

SHANK1 Expression

Representative Mutation

Rating ★ ☆ ☆ ☆ ☆

include:mermaid_SHANK1.md

References

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