• 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GJA5 (HGNC:4279) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
gap junction protein alpha 5
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CX40
%HI
8.62(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.02(Read more about gnomAD pLI score)
LOEUF
0.81(Read more about gnomAD LOEUF score)
Cytoband
1q21.2
Genomic Coordinates
GRCh37/hg19: chr1:147228332-147245455 NCBI Ensembl UCSC
GRCh38/hg38: chr1:147756199-147773351 NCBI Ensembl UCSC
MANE Select Transcript
NM_181703.4 ENST00000579774.3 (Read more about MANE Select)
Function
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-17168
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
02/23/2012

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: PMID: 20818502
    Yang 2010: nonsense mutation (p.Q49X) found in family with atrial fibrillation; not found in 200 controls or unaffected family members.
HI Evidence Comments:
PMID: 15117819 - Report includes 3 probands with large deletion encompassing GJA5 and other genes. Clinical features include heart defects and variable other phenotypes. Inheritance is unknown for one subject, de novo for one, and inherited from normal parent in one. PMID: 18784092 - Characterization of 1q21.1 microdeletion syndrome. These two articles show evidence for the region, but not the individual gene; therefore they are not counted in the haploinsufficiency score.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)