BCHE
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
BCHE (HGNC:983) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
butyrylcholinesterase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CHE1, CHE2
Alias symbols
E1
%HI
14.36(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.2(Read more about gnomAD LOEUF score)
Cytoband
3q26.1
Genomic Coordinates
GRCh37/hg19: chr3:165490692-165555211 NCBI Ensembl UCSC
GRCh38/hg38: chr3:165772904-165837423 NCBI Ensembl UCSC
MANE Select Transcript
NM_000055.4 ENST00000264381.8 (Read more about MANE Select)
Function
Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters. {ECO:0000269|PubMed:19452557, ECO:0000269|PubMed:19542320}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34612
ClinGen Curation ID:
CCID:006738
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • butyrylcholinesterase deficiency Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)