FANK1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true
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 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
FANK1 Expression
