EYA4
This page contains an overview of the genetic variation in the EYA4 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
EYA4 gene and transcript details
Gene Name
eyes absent homolog 4 (Drosophila)
Gene Links
Ensembl: ENSG00000112319 -
Locus Reference Genomic: LRG_418
Genomic Location
Chromosome 6 : 133,595,919 - 133,849,943 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (1917 bases) | Protein (639 aa) |
|---|---|---|
 |
ENST00000367895 | ENSP00000356870 |
 |
LRG_418t1 | LRG_418p1 |
 |
NM_004100.4 | |
 |
O95677 |
Summary of EYA4 in Cardiomyopathies
EYA4 variants in ExAC
Details of the protein-altering EYA4 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 221 | 0.00324 |
| Truncating | 8 | 0.00007 |
| Missense | 173 | 0.00259 |
| Inframe | 1 | 0.00002 |
| Splice Site | 39 | 0.00057 |