AKAP6

A-kinase anchoring protein 6, the group of A-kinase anchoring proteins

Basic information

Region (hg38): 14:32329298-32837684

Links

ENSG00000151320 ∙ NCBI:9472 ∙ OMIM:604691 ∙ HGNC:376 ∙ Uniprot:Q13023 ∙ 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 AKAP6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKAP6 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				2	1	3
missense			118	9	3	130
nonsense			1			1
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	120	11	4

Variants in AKAP6

This is a list of pathogenic ClinVar variants found in the AKAP6 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-32433521-C-T		not specified	Uncertain significance (Jan 19, 2022)
14-32433560-G-A		not specified	Uncertain significance (Dec 13, 2023)
14-32433561-C-A		not specified	Uncertain significance (Dec 21, 2023)
14-32433717-C-A		not specified	Uncertain significance (Jun 03, 2024)
14-32433731-A-T		not specified	Uncertain significance (Jun 03, 2022)
14-32433747-G-A		not specified	Uncertain significance (Apr 23, 2024)
14-32433755-A-G		not specified	Uncertain significance (Nov 10, 2022)
14-32535665-G-A		not specified	Uncertain significance (Apr 19, 2023)
14-32535743-G-A		not specified	Uncertain significance (Sep 22, 2022)
14-32535765-A-C		not specified	Uncertain significance (Feb 14, 2023)
14-32545378-A-G			Uncertain significance (Jan 01, 2017)
14-32545494-T-C		not specified	Likely benign (Jan 12, 2024)
14-32545510-G-A		not specified	Uncertain significance (Apr 17, 2024)
14-32545581-G-A		not specified	Likely benign (Oct 06, 2021)
14-32545609-C-A		not specified	Uncertain significance (Sep 20, 2023)
14-32545617-A-G		not specified	Uncertain significance (Mar 18, 2024)
14-32545639-C-T		not specified	Uncertain significance (Apr 12, 2024)
14-32545642-G-C		not specified	Uncertain significance (Jan 10, 2022)
14-32545684-T-C		not specified	Uncertain significance (Mar 08, 2024)
14-32545713-C-G		not specified	Uncertain significance (Feb 28, 2024)
14-32545807-C-T		not specified	Uncertain significance (May 27, 2022)
14-32545877-T-G			Uncertain significance (Feb 09, 2019)
14-32545888-G-A		not specified	Likely benign (Jul 08, 2022)
14-32545971-G-A		not specified	Uncertain significance (Jun 09, 2022)
14-32546007-G-A			Uncertain significance (Apr 09, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKAP6	protein_coding	protein_coding	ENST00000280979	12	502089

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000172	125715	0	28	125743	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0427	1195	1.19e+3	1.00	0.0000604	15338
Missense in Polyphen		437	483.35	0.90411		6369
Synonymous	-1.00	484	457	1.06	0.0000244	4426
Loss of Function	7.22	14	86.5	0.162	0.00000492	1096

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000330	0.000330
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000926	0.0000924
European (Non-Finnish)	0.000142	0.000141
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the nuclear membrane or sarcoplasmic reticulum. May act as an adapter for assembling multiprotein complexes.
• Pathway: G Protein Signaling Pathways (Consensus)

Recessive Scores

• pRec: 0.127

Intolerance Scores

• loftool: 0.282
• rvis_EVS: 0.3
• rvis_percentile_EVS: 71.65

Haploinsufficiency Scores

• pHI: 0.665
• hipred: Y
• hipred_score: 0.746
• ghis: 0.484

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.525

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Akap6
• Phenotype: growth/size/body region phenotype; cellular phenotype; muscle phenotype; craniofacial 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); 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); normal phenotype

Gene ontology

• Biological process: action potential;protein targeting;regulation of protein kinase A signaling;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;cAMP-mediated signaling;positive regulation of cell growth;positive regulation of phosphoprotein phosphatase activity;positive regulation of release of sequestered calcium ion into cytosol;regulation of membrane repolarization;positive regulation of ryanodine-sensitive calcium-release channel activity;positive regulation of cell growth involved in cardiac muscle cell development;positive regulation of calcineurin-NFAT signaling cascade;cellular response to cAMP;cellular response to cytokine stimulus;positive regulation of potassium ion transmembrane transport;positive regulation of delayed rectifier potassium channel activity
• Cellular component: nuclear envelope;cytoplasm;caveola;junctional sarcoplasmic reticulum membrane;intercalated disc;sarcoplasmic reticulum;T-tubule;nuclear membrane;calcium channel complex;perinuclear region of cytoplasm
• Molecular function: protein binding;adenylate cyclase binding;protein-containing complex scaffold activity;protein kinase A regulatory subunit binding;protein membrane anchor;ion channel binding;protein kinase A binding