GJA8
Basic information
Region (hg38): 1:147902795-147909269
Previous symbols: [ "CAE1", "CZP1", "CAE" ]
Links
Phenotypes
GenCC
Source:
- cataract - microcornea syndrome (Supportive), mode of inheritance: AD
- pulverulent cataract (Supportive), mode of inheritance: AD
- early-onset sutural cataract (Supportive), mode of inheritance: AD
- early-onset nuclear cataract (Supportive), mode of inheritance: AD
- total early-onset cataract (Supportive), mode of inheritance: AD
- cataract 1 multiple types (Definitive), mode of inheritance: AD
- cataract 1 multiple types (Strong), mode of inheritance: AD
- cataract 1 multiple types (Moderate), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Cataract 1, multiple types | AD/AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Ophthalmologic | 14059288; 9497259; 10480374; 11846744; 14627691; 16604058; 18006672; 19756179; 21720542; 20019893; 20597646; 20806042; 21921990 |
ClinVar
This is a list of variants' phenotypes submitted to
- Cataract_1_multiple_types (184 variants)
- Inborn_genetic_diseases (69 variants)
- not_provided (46 variants)
- GJA8-related_disorder (17 variants)
- Zonular_Pulverulent_Cataract (13 variants)
- Developmental_cataract (10 variants)
- Chromosome_1q21.1_deletion_syndrome (2 variants)
- Anterior_segment_dysgenesis (2 variants)
- acorea-microphthalmia-cataract_syndrome (1 variants)
- not_specified (1 variants)
- Microphthalmia_and_cataract (1 variants)
- acorea,microphthalmia_and_cataract_syndrome (1 variants)
- Microphthalmia (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GJA8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005267.5. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 24 | 30 | ||||
missense | 11 | 53 | 145 | 16 | 228 | |
nonsense | 3 | |||||
start loss | 0 | |||||
frameshift | 9 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 11 | 58 | 156 | 40 | 5 |
Highest pathogenic variant AF is 0.00000657168
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
GJA8 | protein_coding | protein_coding | ENST00000240986 | 1 | 6448 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00220 | 0.927 | 125705 | 0 | 43 | 125748 | 0.000171 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.199 | 270 | 261 | 1.03 | 0.0000178 | 2807 |
Missense in Polyphen | 58 | 85.717 | 0.67665 | 971 | ||
Synonymous | -1.57 | 145 | 123 | 1.18 | 0.00000959 | 906 |
Loss of Function | 1.58 | 6 | 11.9 | 0.506 | 5.16e-7 | 150 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000578 | 0.0000578 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.000929 | 0.000924 |
European (Non-Finnish) | 0.000146 | 0.000141 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.0000660 | 0.0000653 |
Other | 0.000165 | 0.000163 |
dbNSFP
Source:
- Function
- 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.;
- Pathway
- Calcium Regulation in the Cardiac Cell
(Consensus)
Recessive Scores
- pRec
- 0.241
Intolerance Scores
- loftool
- 0.138
- rvis_EVS
- -0.18
- rvis_percentile_EVS
- 40.36
Haploinsufficiency Scores
- pHI
- 0.331
- hipred
- N
- hipred_score
- 0.197
- ghis
- 0.397
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.651
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gja8
- Phenotype
- cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); vision/eye phenotype;
Gene ontology
- Biological process
- lens development in camera-type eye;cell-cell signaling;visual perception;protein homooligomerization;transmembrane transport
- Cellular component
- integral component of plasma membrane;connexin complex
- Molecular function
- gap junction channel activity;channel activity