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.

History

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

Relevance tier by entity

Entity Tier Description
BL 2 relevance in BL not firmly established

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 479 479 508 516 851

References

  1. Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561