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rdmorin edited this page May 19, 2024 · 20 revisions

BCOR

Relevance tier by entity

Entity Tier Description
DLBCL 1 high-confidence DLBCL gene
MCL 1 high-confidence MCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 3.82
DLBCL Schmitz cohort 7.66
DLBCL Reddy cohort 2.50
DLBCL Chapuy cohort 2.56
MCL GAMBL genomes 3.79

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 1.341 0
DLBCL No No 2.471 0
FL No No 1.743 0

Note

First described in MCL in 2020 by Nadeu F

BCOR Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chrX 39921444 T>C N1459S

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image

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