AKAP10

A-kinase anchoring protein 10, the group of A-kinase anchoring proteins

Basic information

Region (hg38): 17:19904301-19978343

Links

ENSG00000108599 ∙ NCBI:11216 ∙ OMIM:604694 ∙ HGNC:368 ∙ Uniprot:O43572 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AKAP10 gene.

• Inborn genetic diseases (19 variants)
• Conduction disorder of the heart (1 variants)
• not provided (1 variants)
• SUDDEN INFANT DEATH SYNDROME (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKAP10 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			21			21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding						0
Total	0	0	21	0	0

Variants in AKAP10

This is a list of pathogenic ClinVar variants found in the AKAP10 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-19909192-T-C			Uncertain significance (Dec 26, 2021)
17-19909201-G-T		not specified	Uncertain significance (Jun 28, 2023)
17-19909218-T-C		not specified	Uncertain significance (Nov 18, 2023)
17-19909228-T-C		Cardiac conduction defect, susceptibility to • AKAP10-related disorder	Benign (Oct 17, 2019)
17-19924466-T-C		not specified	Uncertain significance (Jan 24, 2023)
17-19924468-G-A		not specified	Uncertain significance (Dec 21, 2022)
17-19931799-C-T		AKAP10-related disorder	Benign (Oct 21, 2019)
17-19931816-A-C		not specified	Uncertain significance (Sep 26, 2023)
17-19931837-G-A		not specified	Uncertain significance (Mar 08, 2024)
17-19931840-A-T		not specified	Uncertain significance (Dec 02, 2022)
17-19931878-G-A		AKAP10-related disorder	Benign (Nov 20, 2019)
17-19936281-G-T		Conduction disorder of the heart	Uncertain significance (-)
17-19936311-C-T		not specified	Uncertain significance (Aug 15, 2023)
17-19936434-T-C		AKAP10-related disorder	Likely benign (Mar 14, 2019)
17-19939808-C-G		not specified	Uncertain significance (Dec 19, 2022)
17-19939809-C-A		not specified	Uncertain significance (Dec 19, 2022)
17-19939814-T-C		AKAP10-related disorder	Likely benign (Apr 24, 2020)
17-19940965-C-G		not specified	Uncertain significance (Aug 08, 2023)
17-19941866-C-T		not specified	Uncertain significance (Oct 25, 2023)
17-19941867-G-A		AKAP10-related disorder	Likely benign (Sep 23, 2019)
17-19941910-G-C		not specified	Uncertain significance (Aug 04, 2023)
17-19947493-T-A		not specified	Uncertain significance (Feb 16, 2023)
17-19947505-C-T		not specified	Uncertain significance (Jun 18, 2021)
17-19958041-T-C		SUDDEN INFANT DEATH SYNDROME	Uncertain significance (Oct 01, 2021)
17-19958070-G-A		not specified	Uncertain significance (Mar 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKAP10	protein_coding	protein_coding	ENST00000225737	15	74042

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.108	0.892	125733	0	15	125748	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.35	263	332	0.791	0.0000163	4362
Missense in Polyphen		60	107.2	0.55971		1399
Synonymous	-0.379	126	121	1.04	0.00000647	1241
Loss of Function	4.13	9	35.6	0.253	0.00000200	415

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000868	0.0000868
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000616	0.0000615
Middle Eastern	0.000218	0.000217
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain, it could lead to the interaction to G-alpha proteins, providing a link between the signaling machinery and the downstream kinase (By similarity). {ECO:0000250}.
• Disease: DISEASE: Sudden cardiac death (SCD) [MIM:115080]: Unexpected rapid death due to cardiovascular collapse in a short time period, generally within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as chest pain and cardiac arrhythmias, particularly ventricular tachycardia, can lead to the loss of consciousness and cardiac arrest followed by biological death. {ECO:0000269|PubMed:17485678}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Increased susceptibility to sudden cardiac death may be conferred by AKAP10 variants that are associated with markers of low vagus nerve sensitivity, e.g. fast basal heart rate and low heart rate variability.
• Pathway: G Protein Signaling Pathways;Factors involved in megakaryocyte development and platelet production;Hemostasis (Consensus)

Recessive Scores

• pRec: 0.131

Intolerance Scores

• loftool: 0.564
• rvis_EVS: 0.0000761
• rvis_percentile_EVS: 53.98

Haploinsufficiency Scores

• pHI: 0.452
• hipred: Y
• hipred_score: 0.696
• ghis: 0.579

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.956

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	Medium	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Akap10
• Phenotype: vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); liver/biliary system phenotype; embryo 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); growth/size/body region phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); craniofacial phenotype

Zebrafish Information Network

• Gene name: akap10
• Affected structure: thrombocyte
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: signal transduction;blood coagulation;protein localization
• Cellular component: mitochondrion;cytosol;plasma membrane;protein-containing complex
• Molecular function: protein binding;protein kinase A binding