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EPAS1
Basic information
- Official gene symbol
-
endothelial PAS domain protein 1
- Conventional gene symbol
-
ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73
- Classification
-
Oncogene / Tumor suppressor gene
- Official gene ID
- Transcript ID
- Functional classification
-
Tumor growth and progression
- Signaling pathway
-
PI3K/Akt/mTOR
- Chromosomal location
-
2p21 (chr2:46525051..46611799)
- Protein length
-
870
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 |
|---|---|---|---|---|---|---|---|---|
| chr2:46607400 | C | T | 12 / 16 | p.A530V | c.1589C>T | COSV55383943 | Tier2 | 2 / 65 |
| chr2:46607402 | C | T | 12 / 16 | p.P531S | c.1591C>T | COSV55384498 | Tier2 | 1 / 65 |