CHEK1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CHEK1 (HGNC:1925) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
checkpoint kinase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CHK1
%HI
3.14(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.83(Read more about gnomAD LOEUF score)
Cytoband
11q24.2
Genomic Coordinates
GRCh37/hg19: chr11:125495031-125546150 NCBI Ensembl UCSC
GRCh38/hg38: chr11:125625136-125681124 NCBI Ensembl UCSC
MANE Select Transcript
NM_001114122.3 ENST00000438015.7 (Read more about MANE Select)
Function
Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest and activation of DNA repair in response to the presence of DNA damage or unreplicated DNA (PubMed:11535615, PubMed:12446774, PubMed:12399544, PubMed:14559997, PubMed:14988723, PubMed:15311285, PubMed:15665856, PubMed:15650047, PubMed:32357935). May also negatively regulate cell cycle progression during unperturbed cell cycles (PubMed:11535615, PubMed:12446774, PubMed:12399544, PubMed:14559997, PubMed:149... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-4741
ClinGen Curation ID:
CCID:006857
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
11/10/2021

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 33504652
    Tlemsani et al. (2020) did a cohort WES study of germline variants in small cell lung cancer and identified 2 patients with 2 nonsense variants of unknown inheritance in CHEK1 (Q346X & R379X).
  • PUBMED: 26689913
    Lu et al (2015) Large-scale cancer WES of 4,034 cases from The Cancer Genome Atlas cancer cases representing 12 cancer types reported a germline splicing variant of unknown inheritance in a patient with glioblastoma.
HI Evidence Comments:
Of note, the Breast/Ovarian GCEP has classified CHEK1 as No Known Disease Relationship. Additional Literature: PMID: 31517177 Dumbrava et al (2019) did NGS panel analysis of 54 cancer -related genes on tumor/normal tissue pairs from 1000 patients with advanced or metastatic solid tumors, and identified 2 variants in CHEK1 gene in 2 patients with breast cancer. However, did not provide detail of the variants. PMID: 31780696, 31159747 & 31811167 reported 3 missense variants in 3 patients with different type of cancers, including breast cancer. And the inheritance was unknown.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)