AKAP9
This page contains an overview of the genetic variation in the AKAP9 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:
AKAP9 gene and transcript details
Gene Name
A kinase (PRKA) anchor protein (yotiao) 9
Gene Links
Ensembl: ENSG00000127914 -
Locus Reference Genomic: LRG_331
Genomic Location
Chromosome 7 : 91,570,414 - 91,739,473 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (11721 bases) | Protein (3907 aa) |
|---|---|---|
 |
ENST00000356239 | ENSP00000348573 |
 |
LRG_331t1 | LRG_331p1 |
 |
NM_005751.4 | |
 |
Summary of AKAP9 in Cardiomyopathies
AKAP9 variants in ExAC
Details of the protein-altering AKAP9 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 | 1376 | 0.02024 |
| Truncating | 69 | 0.00073 |
| Missense | 1199 | 0.01797 |
| Inframe | 21 | 0.00025 |
| Splice Site | 87 | 0.00128 |