Table of Contents

Overview

This gene has some recurrent sites of mutations (hot spots). The mutation pattern in DLBCL and FL implies the preferential accumulation of inactivating mutations however the pattern is notable. These mutations often result in truncations affecting the DAZAP1 C-terminus, which are predicted to alter protein sub-cellular localization and disrupt protein-protein interactions.1

Relevance tier by entity

Entity Tier Description
DLBCL 2 Role of DAZAP1 mutations in DLBCL requires confirmation
MCL 1 High-confidence MCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 33 0.0303 [0.0201,0.0405]
DLBCL GAMBL with Reddy 2,088 49 0.0235 [0.017,0.03]
DLBCL BC 231 5 0.0216 [0.0029,0.0404]
DLBCL Dana-Farber 303 2 0.0066 [0,0.0157]
DLBCL NCI 470 25 0.0532 [0.0329,0.0735]
DLBCL Reddy 999 16 0.0160 [0.0082,0.0238]
DLBCL DLBCL_ICGC 85 1 0.0118 [0,0.0347]

MCL

pathology Collection N mutated Incidence CI
MCL GAMBL 160 7 0.0429 [0.0115,0.0743]
MCL BC_MCL 103 4 0.0388 [0.0015,0.0761]
MCL Barcelona 57 3 0.0526 [0,0.1106]

Mutation pattern and selective pressure estimates

Failed to render page: conflicting chdir during another chdir block

DAZAP1 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr19 1434897 C>T P404S
chr19 1434900 T>A Y405N
chr19 1434903 C>G R406G
chr19 1434903 C>T R406*
chr19 1434906 C>T R407C

Failed to render page: conflicting chdir during another chdir block

Expression

Failed to render page: conflicting chdir during another chdir block

References

1.
Pararajalingam P, Coyle KM, Arthur SE, Thomas N, Alcaide M, Meissner B, Boyle M, Qureshi Q, Grande BM, Rushton C, Slack GW, Mungall AJ, Tam CS, Agarwal R, Dawson SJ, Lenz G, Balasubramanian S, Gascoyne RD, Steidl C, Connors J, Villa D, Audas TE, Marra MA, Johnson NA, Scott DW, Morin RD. Coding and noncoding drivers of mantle cell lymphoma identified through exome and genome sequencing. Blood. 2020 Jul 30;136(5):572–584. PMCID: PMC7440974

Failed to render page: conflicting chdir during another chdir block