PIK3CA AMPLIFICATION Detail (hg38) (PIK3CA)

Information

Genome

Assembly Position
hg19  
hg38 chr3:179,148,523-179,240,093
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 605222 OMIM
HGNC 6287 HGNC
Ensembl ENSG00000171121 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided 2017/06/22 lung squamous cell carcinoma(metastasis) somatic MGS000017
(TMGS000052)
Kohei Miyazono Tokyo University
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
stomach carcinoma Alpelisib D Predictive Supports Sensitivity/Response Somatic 3 24608574 Detail
head and neck squamous cell carcinoma Taselisib D Predictive Supports Sensitivity/Response Somatic 1 26589432 Detail
gastric adenocarcinoma B Prognostic Supports Poor Outcome Somatic 3 22292935 Detail
melanoma Vemurafenib D Predictive Supports Resistance Somatic 2 24265155 Detail
ovary epithelial cancer Pictilisib C Predictive Supports Sensitivity/Response Somatic 2 25370471 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
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
KCNMB3
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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