AKAP14

A-kinase anchoring protein 14, the group of A-kinase anchoring proteins

Basic information

Region (hg38): X:119895837-119920716

Links

ENSG00000186471 ∙ NCBI:158798 ∙ OMIM:300462 ∙ HGNC:24061 ∙ Uniprot:Q86UN6 ∙ 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 AKAP14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKAP14 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			6	3		9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	3	0

Variants in AKAP14

This is a list of pathogenic ClinVar variants found in the AKAP14 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-119903297-C-T		not specified	Uncertain significance (May 30, 2024)
X-119903320-G-A		not specified	Uncertain significance (Apr 02, 2025)
X-119903524-T-A		not specified	Uncertain significance (Jan 30, 2025)
X-119903536-G-A		not specified	Uncertain significance (May 29, 2024)
X-119914790-A-G		not specified	Likely benign (Dec 30, 2024)
X-119914826-G-A		not specified	Likely benign (Sep 30, 2024)
X-119914832-C-T		not specified	Uncertain significance (Apr 15, 2025)
X-119914835-C-T		not specified	Uncertain significance (Dec 20, 2023)
X-119914841-C-A		not specified	Uncertain significance (Oct 24, 2023)
X-119919904-T-G		AKAP14-related disorder	Benign (Oct 03, 2022)
X-119919914-G-A		not specified	Uncertain significance (Mar 04, 2024)
X-119919918-C-T		not specified	Uncertain significance (Jan 07, 2025)
X-119920521-C-T		not specified	Likely benign (Oct 04, 2022)
X-119920522-G-A		not specified	Uncertain significance (Nov 12, 2024)
X-119920599-C-A		not specified	Uncertain significance (Feb 25, 2025)
X-119920599-C-T		not specified	Likely benign (Oct 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKAP14	protein_coding	protein_coding	ENST00000371431	5	24880

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.658	0.337	124966	0	1	124967	0.00000400

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.670	61	77.6	0.786	0.00000598	1315
Missense in Polyphen		8	17.85	0.44818		356
Synonymous	0.511	24	27.4	0.876	0.00000228	346
Loss of Function	2.25	1	7.75	0.129	6.48e-7	115

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000723	0.0000545
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000723	0.0000545
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.

Recessive Scores

• pRec: 0.0857

Intolerance Scores

• loftool: 0.158
• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.76

Haploinsufficiency Scores

• pHI: 0.0528
• hipred: N
• hipred_score: 0.207
• ghis: 0.451

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.714

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Akap14

Gene ontology

• Biological process: biological_process
• Cellular component: axoneme;cAMP-dependent protein kinase complex
• Molecular function: protein binding;protein kinase A regulatory subunit binding