PRDM1 - morinlab/LLMPP GitHub Wiki

PRDM1

History

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timeline
    title Publication timing
      2006-02-02 : Pasqualucci : DLBCL

Relevance tier by entity

Entity Tier Description
BL 2 relevance in BL not firmly established
DLBCL 1 high-confidence DLBCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 2.31
BL Thomas cohort 0.80
BL Panea cohort 5.90
DLBCL GAMBL genomes 6.88
DLBCL Schmitz cohort 10.21
DLBCL Reddy cohort 5.41
DLBCL Chapuy cohort 8.55

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 0.746 0.000
DLBCL No Yes 4.912 23.497
FL No No 0.000 0.000

PRDM1 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr6 106536207 T>A C58*
chr6 106536207 T>G C58W
chr6 106536209 C>T T59I
chr6 106536256 A>T T75S
chr6 106536262 G>T V77F
chr6 106536324 G>A E97=
chr6 106536324 G>C E97D

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

PRDM1 Expression

References

  1. Pasqualucci L, Compagno M, Houldsworth J, Monti S, Grunn A, Nandula SV, Aster JC, Murty VV, Shipp MA, Dalla-Favera R. Inactivation of the PRDM1/BLIMP1 gene in diffuse large B cell lymphoma. J Exp Med. 2006 Feb;203(2):311–317.