CCNE1 AMPLIFICATION Detail (hg38) (CCNE1)

Information

Genome

Assembly Position
hg19 chr19:30,302,805-30,315,215 View the variant detail on this assembly version.
hg38 chr19:29,811,898-29,824,308
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 123837 OMIM
HGNC 1589 HGNC
Ensembl ENSG00000105173 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
estrogen-receptor positive breast cancer Palbociclib D Predictive Supports Resistance N/A 3 27020857 Detail
ovarian serous cystadenocarcinoma Dinaciclib,Akt Inhibitor MK2206 D Predictive Supports Sensitivity/Response Somatic 4 27663592 Detail
ovarian carcinoma B Prognostic Supports Poor Outcome Somatic 4 20336784 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Preclinical study in breast cancer cell lines treated with CDK4/6 inhibitor palbociclib. Cell lines ... CIViC Evidence Detail
A high throughput compound screen identified synergistic combinations in CCNE1 amplified high grade ... CIViC Evidence Detail
In a retrospective study of 88 ovarian carcinomas, 18 had amplification of CCNE1. Those with amplifi... 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
CCNE1
Genome
hg38
Position
chr19:29,811,898-29,824,308
Variant Type
cnv
Variant (CIViC) (CIViC Variant)
AMPLIFICATION
Transcript 1 (CIViC Variant)
ENST00000262643.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/187
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