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AKAP9

Synonyms
AKAP-9, AKAP350, AKAP450, CG-NAP, HYPERION, LQT11, MU-RMS-40.16A, PPP1R45, PRKA9, YOTIAO
External resources
Summary
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
49
Likely pathogenic
30
VUS
15,255
Likely benign
9,215
Benign
6,710

Patient phenotypes

Proportions of phenotypes among 79 patients carrying pathogenic or likely pathogenic variants on AKAP9 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.3%
Abnormality of the musculoskeletal system
35.4%
Abnormality of the cardiovascular system
21.5%
Abnormality of head or neck
20.3%
Abnormality of the eye
19%
Abnormality of limbs
12.7%
Abnormality of the ear
12.7%
Abnormality of the integument
12.7%
Growth abnormality
12.7%
Abnormality of the genitourinary system
8.9%
Abnormality of prenatal development or birth
5.1%
Abnormality of the endocrine system
5.1%
Abnormality of the respiratory system
5.1%
Abnormality of the digestive system
3.8%
Abnormality of blood and blood-forming tissues
2.5%
Abnormality of the breast
2.5%
Abnormality of the immune system
2.5%
Neoplasm
1.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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