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POLE
Basic information
- Official gene symbol
-
DNA polymerase epsilon, catalytic subunit
- Conventional gene symbol
-
CRCS12, FILS, IMAGEI, POLE1
- Classification
-
Tumor suppressor gene
- Official gene ID
- Transcript ID
- Functional classification
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Genome maintenance
- Signaling pathway
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Core DNA Damage Response
- Chromosomal location
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12q24.33 (chr12:133201283..133263901, complement)
- Protein length
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2,286
Chromosome ideogram
Frequency of somatic alterationsTumor type
Base substitutions, insertions, and deletions
Copy number alterations
Distribution of tumor mutation burdenTMB
List of driver somatic mutations
| Genomic Coordinates (GRCh37/hg19) | Reference | Variant | Exon | Amino Acid change | Coding DNA change | COSMIC (v92) | Classification | No. of Samples |
|---|---|---|---|---|---|---|---|---|
| chr12:133253184 | G | C | 9 / 49 | p.P286R | c.857C>G | COSV57673247 | Tier2 | 12 / 183 |
| chr12:133252327 | A | G | 11 / 49 | p.F367S | c.1100T>C | COSV57676684 | Tier2 | 1 / 183 |
| chr12:133250289 | C | A | 13 / 49 | p.V411L | c.1231G>T | COSV57677068 | Tier2 | 4 / 183 |
| chr12:133250289 | C | G | 13 / 49 | p.V411L | c.1231G>C | COSV57676103 | Tier2 | 2 / 183 |
| chr12:133249847 | G | A | 14 / 49 | p.S459F | c.1376C>T | COSV57675673 | Tier2 | 2 / 183 |