• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CHKB (HGNC:1938) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
choline kinase beta
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CHKL
Alias symbols
CHETK
%HI
60.19(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.92(Read more about gnomAD LOEUF score)
Cytoband
22q13.33
Genomic Coordinates
GRCh37/hg19: chr22:51017392-51021278 NCBI Ensembl UCSC
GRCh38/hg38: chr22:50578963-50582849 NCBI Ensembl UCSC
MANE Select Transcript
NM_005198.5 ENST00000406938.3 (Read more about MANE Select)
Function
Has a key role in phospholipid metabolism, and catalyzes the first step of phosphatidylethanolamine and phosphatidylcholine biosynthesis. {ECO:0000269|PubMed:19915674, ECO:0000269|PubMed:21665002}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34928
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • megaconial type congenital muscular dystrophy Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000022.10) (NC_000022.11)