AKAP1

A-kinase anchoring protein 1, the group of A-kinase anchoring proteins|Tudor domain containing|Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 17:57085091-57121346

Previous symbols: [ "PRKA1" ]

Links

ENSG00000121057 ∙ NCBI:8165 ∙ OMIM:602449 ∙ HGNC:367 ∙ Uniprot:Q92667 ∙ 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 AKAP1 gene.

• Inborn genetic diseases (39 variants)
• not provided (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKAP1 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				4	6	10
missense			33	7	5	45
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					2	2
non coding						0
Total	0	0	33	11	11

Variants in AKAP1

This is a list of pathogenic ClinVar variants found in the AKAP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-57105492-C-T		not specified	Uncertain significance (Jan 23, 2023)
17-57105546-C-A		not specified	Uncertain significance (Jan 31, 2024)
17-57105562-T-G		not specified	Uncertain significance (Apr 08, 2022)
17-57105628-A-G		not specified	Uncertain significance (Sep 01, 2021)
17-57105641-C-T			Likely benign (Apr 01, 2022)
17-57105642-G-A			Benign (Jul 31, 2018)
17-57105679-C-G		not specified	Uncertain significance (Jul 14, 2021)
17-57105684-G-A		not specified	Uncertain significance (Nov 18, 2023)
17-57105703-A-G		Malignant tumor of prostate	Uncertain significance (-)
17-57105733-C-T		not specified	Likely benign (Jan 17, 2023)
17-57105749-G-T		not specified	Uncertain significance (Dec 20, 2023)
17-57105772-G-A		not specified	Uncertain significance (Jul 20, 2021)
17-57105787-C-T		not specified	Uncertain significance (Jul 13, 2021)
17-57105808-C-T		not specified	Likely benign (Apr 26, 2023)
17-57105823-G-A		not specified	Likely benign (Jan 02, 2024)
17-57105835-G-T		not specified	Uncertain significance (Aug 16, 2022)
17-57105864-G-T		not specified	Uncertain significance (Sep 06, 2022)
17-57105871-C-A		not specified	Uncertain significance (Jun 29, 2023)
17-57105871-C-T		not specified	Uncertain significance (Oct 26, 2022)
17-57106084-A-G		not specified	Uncertain significance (Sep 13, 2023)
17-57106116-G-A			Benign (Jul 31, 2018)
17-57106186-G-C			Benign (Jul 23, 2018)
17-57106200-G-A		not specified	Uncertain significance (Aug 17, 2022)
17-57106251-G-T		not specified	Uncertain significance (Jul 09, 2021)
17-57106254-G-C		not specified	Uncertain significance (Jan 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKAP1	protein_coding	protein_coding	ENST00000337714	10	36258

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.742	0.258	125723	0	25	125748	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.18	440	515	0.854	0.0000299	5844
Missense in Polyphen		78	113.1	0.68966		1257
Synonymous	0.233	218	222	0.980	0.0000144	1879
Loss of Function	4.41	7	35.2	0.199	0.00000184	416

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000206	0.000206
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000217	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000968	0.0000967
Middle Eastern	0.000217	0.000217
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to type I and II regulatory subunits of protein kinase A and anchors them to the cytoplasmic face of the mitochondrial outer membrane.
• Pathway: Proton Pump Inhibitor Pathway, Pharmacodynamics;G Protein Signaling Pathways;Factors involved in megakaryocyte development and platelet production;Transport of small molecules;Hemostasis;Mitochondrial calcium ion transport;Signaling events mediated by VEGFR1 and VEGFR2 (Consensus)

Recessive Scores

• pRec: 0.134

Intolerance Scores

• loftool: 0.521
• rvis_EVS: 0.19
• rvis_percentile_EVS: 66.27

Haploinsufficiency Scores

• pHI: 0.978
• hipred: N
• hipred_score: 0.493
• ghis: 0.449

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.969

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Akap1
• Phenotype: reproductive system phenotype

Gene ontology

• Biological process: blood coagulation;regulation of protein kinase A signaling
• Cellular component: mitochondrion;mitochondrial outer membrane;cytosol;membrane;integral component of membrane
• Molecular function: RNA binding;protein binding;protein kinase A regulatory subunit binding