ZCCHC7
History
| Entity | Tier | Description |
|---|---|---|
| 2-a | aSHM target; Although recurrent, the relevance of mutations in DLBCL is tenuous |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| DLBCL | GAMBL genomes | 0.57 |
| DLBCL | Schmitz cohort | 0.85 |
| DLBCL | Reddy cohort | 0.40 |
| DLBCL | Chapuy cohort | 2.56 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | No | 2.124 | 0 |
| DLBCL | Yes | No | 1.558 | 0 |
| FL | Yes | No | 0.000 | 0 |
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr9 | 37192080 | 37207549 | intron-4 | intron |
| chr9 | 37275952 | 37306152 | intron-2 | intron |
| chr9 | 37312655 | 37328260 | intron-3 | intron |
| chr9 | 37329706 | 37340398 | intron-1 | intron |
[!NOTE] First described in DLBCL in 2018 by Arthur SE
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
## ZCCHC7
Expression
## References 1.
Arthur SE, Jiang A, Grande BM, Alcaide M, Cojocaru R, Rushton CK, Mottok
A, Hilton LK, Lat PK, Zhao EY, Culibrk L, Ennishi D, Jessa S, Chong L,
Thomas N, Pararajalingam P, Meissner B, Boyle M, Davidson J, Bushell KR,
Lai D, Farinha P, Slack GW, Morin GB, Shah S, Sen D, Jones SJM, Mungall
AJ, Gascoyne RD, Audas TE, Unrau P, Marra MA, Connors JM, Steidl C,
Scott DW, Morin RD. Genome-wide discovery of somatic regulatory variants
in diffuse large B-cell lymphoma. Nat Commun. 2018 Oct 1;9(1):4001.
PMCID: PMC6167379


