ATM UNDEREXPRESSION Detail (hg19) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,093,559-108,239,826
hg38 chr11:108,222,832-108,369,099 View the variant detail on this assembly version.
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 607585 OMIM
HGNC 795 HGNC
Ensembl ENSG00000149311 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
pancreatic cancer B Prognostic Supports Poor Outcome N/A 2 25423555 Detail
chronic lymphocytic leukemia B Prognostic Supports Poor Outcome N/A 3 9788599 Detail
cancer KU-0060648,NU7441 D Predictive Supports Sensitivity/Response Somatic 5 23761041 Detail
stomach cancer Olaparib,Paclitaxel B Predictive Supports N/A 1 26282658 Detail
gastric adenocarcinoma Olaparib D Predictive Supports Sensitivity/Response N/A 4 24841718 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Absent expression of ATM, as assessed by IHC in 133 pancreatic ductal adenocarcinomas, was found to ... CIViC Evidence Detail
43 B-CLL patients with LoH or reduced protein levels (<50% normal expression, radioimmunoassay, west... CIViC Evidence Detail
ATM-deficient H1395 and HT144 cancer cell lines showed growth inhibition when treated with DNA PKcs ... CIViC Evidence Detail
A randomized phase 2 trial investigating the efficiency of Olaparib plus Paclitaxel vs. Placebo plus... CIViC Evidence Detail
Low ATM protein expression led to sensitivity to PARP inhibitors in TP53 -ve gastric cancer cell lin... 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
ATM
Genome
hg19
Position
chr11:108,093,559-108,239,826
Variant Type
cnv
Variant (CIViC) (CIViC Variant)
UNDEREXPRESSION
Transcript 1 (CIViC Variant)
ENST00000278616.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/179
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