FANK1 - morinlab/LLMPP GitHub Wiki
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FANK1
Relevance tier by entity
| 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 |
0.19 |
| DLBCL |
Schmitz cohort |
0.64 |
| DLBCL |
Reddy cohort |
1.00 |
| DLBCL |
Chapuy cohort |
0.85 |
Mutation pattern and selective pressure estimates
| Entity |
aSHM |
Significant selection |
dN/dS (missense) |
dN/dS (nonsense) |
| BL |
Yes |
No |
1.665 |
0 |
| DLBCL |
Yes |
No |
1.593 |
0 |
| FL |
Yes |
No |
2.933 |
0 |
aSHM regions
| chr_name |
hg19_start |
hg19_end |
region |
regulatory_comment |
| chr10 |
127578912 |
127591133 |
TSS |
active_promoter |
include:tables/browser_FANK1.md
Expression
References