CAD - morinlab/LLMPP GitHub Wiki


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

CAD

Overview

Due to minimal support in the original primary data and very few mutations reported in subsequent studies, this gene is very unlikely to be relevant in BL.

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

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
      2012-12-01 : Love : BL
      2013-01-01 : Zhang : DLBCL

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 3.93
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 0.965 0
DLBCL No No 1.949 0
FL No No 0.000 0

CAD Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr2 27455966 T>A Y983*

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

CAD Expression

Representative Mutation

Rating ★ ☆ ☆ ☆ ☆

All Mutations

1064 1102 479 479

References