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

SHANK1

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

History

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timeline
    title Publication timing
      2012-12-01 : Love : BL

Relevance tier by entity

Entity	Tier	Description
	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 ★ ☆ ☆ ☆ ☆

References