EPAS1 OVEREXPRESSION Detail (hg38) (EPAS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:46,524,541-46,613,836 View the variant detail on this assembly version. |
| hg38 | chr2:46,297,402-46,386,697 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| colorectal cancer | B |
Prognostic
|
Does Not Support
|
Poor Outcome |
N/A
|
3 | 20363910 | Detail | |
| renal cell carcinoma | Pazopanib | B |
Predictive
|
Does Not Support
|
N/A | Somatic | 3 | 23881929 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Expression of EPAS1 (HIF-2alpha) was assessed in 731 colorectal cancers from two prospective cohort ... | CIViC Evidence | Detail |
| HIF-2A (EPAS1) staining was conducted on 66 tumors. Of the 66 patients, 25 were classified as respo... | CIViC Evidence | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- EPAS1
- Genome
- hg38
- Position
- chr2:46,297,402-46,386,697
- Variant Type
- cnv
- Variant (CIViC) (CIViC Variant)
- OVEREXPRESSION
- Transcript 1 (CIViC Variant)
- ENST00000263734.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/435
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