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Mutation:
EXOSC2 H43R
Summary
Isoform:
Position:
43
Ref:
H
Mutation:
R
PTM impact:
network-rewiring
PTM affected:
4
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 37T
Affected site:
Position: 37
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 31N | G[D/N]DTITTDTGFMRGHG | 6 |
distal
|
| 43R | GDTITTDTGFMRG[H/R]HG | 6 |
distal
|
| 31Y | G[D/Y]DTITTDTGFMRGHG | 6 |
distal
|
PTM Site: 41R
Affected site:
Position: 41
Residue: R
Type: methylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 43R | TTDTGFMRG[H/R]HGTYMG | 2 |
proximal
|
PTM Site: 45T
Affected site:
Position: 45
Residue: T
Type: phosphorylation
Best gain of PTM site:
PRKACA (probability p=0.95)
Site: 45T (phosphorylation)
Position in motif: -2
There are 2 other predicted
gains:
- ROCK1 (p=0.867)
- RPS6KA5 (p=0.857)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 43R | GFMRG[H/R]HGTYMGEEKL | 2 |
network-rewiring
|
PTM Site: 46Y
Affected site:
Position: 46
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 43R | FMRG[H/R]HGTYMGEEKLI | 3 |
distal
|
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