• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
COLQ (HGNC:2226) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
collagen like tail subunit of asymmetric acetylcholinesterase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
EAD
%HI
5.64(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.1(Read more about gnomAD LOEUF score)
Cytoband
3p25.1
Genomic Coordinates
GRCh37/hg19: chr3:15491640-15563213 NCBI Ensembl UCSC
GRCh38/hg38: chr3:15450133-15521706 NCBI Ensembl UCSC
MANE Select Transcript
NM_005677.4 ENST00000383788.10 (Read more about MANE Select)
Function
Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-11019
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:
  • congenital myasthenic syndrome 5 Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

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