GJA5 |
- 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)
Related Links:
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)