PIK3CA AMPLIFICATION Detail (hg38) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,866,311-178,957,881 View the variant detail on this assembly version. |
| hg38 | chr3:179,148,523-179,240,093 |
Summary
MGeND
| Clinical significance |
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
|
2017/06/22 | lung squamous cell carcinoma(metastasis) |
|
MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University |
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| stomach carcinoma | Alpelisib | D |
|
|
Sensitivity/Response | Somatic | 3 | 24608574 | Detail |
| head and neck squamous cell carcinoma | Taselisib | D |
|
|
Sensitivity/Response | Somatic | 1 | 26589432 | Detail |
| gastric adenocarcinoma | B |
|
|
Poor Outcome | Somatic | 3 | 22292935 | Detail | |
| melanoma | Vemurafenib | D |
|
|
Resistance | Somatic | 2 | 24265155 | Detail |
| ovary epithelial cancer | Pictilisib | C |
|
|
Sensitivity/Response | Somatic | 2 | 25370471 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 474 cancer cell lines from the cancer cell line encyclopedia were assessed for response to the PI3Ka... | CIViC Evidence | Detail |
| The HNSCC cell line LB771 with PIK3CA amplification was shown to have low antiproliferative IC50 for... | CIViC Evidence | Detail |
| In patients with gastric cancer, those with amplification of PIK3CA had shorter overall survival tha... | CIViC Evidence | Detail |
| An in vitro study of M229 (a human melanoma cell line) endogenously expressing wildtype PIK3CA and B... | CIViC Evidence | Detail |
| One platinum-refractory epithelial ovarian cancer patient with PTEN loss and PIK3CA amplification ha... | 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
- PIK3CA
- Genome
- hg38
- Position
- chr3:179,148,523-179,240,093
- Variant Type
- cnv
- Variant (CIViC) (CIViC Variant)
- AMPLIFICATION
- Transcript 1 (CIViC Variant)
- ENST00000263967.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/212
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