AKAP11

A-kinase anchoring protein 11, the group of A-kinase anchoring proteins|Protein phosphatase 1 regulatory subunits

Basic information

Region (hg38): 13:42272152-42323261

Links

ENSG00000023516 ∙ NCBI:11215 ∙ OMIM:604696 ∙ HGNC:369 ∙ Uniprot:Q9UKA4 ∙ 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 AKAP11 gene.

• not_specified (243 variants)
• not_provided (11 variants)
• AKAP11-related_disorder (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKAP11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016248.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			233	12	9	254
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	233	13	9

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKAP11	protein_coding	protein_coding	ENST00000025301	11	51108

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.979	0.0212	125716	0	22	125738	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.313	920	947	0.971	0.0000451	12563
Missense in Polyphen		239	290.82	0.8218		4090
Synonymous	-0.391	363	354	1.03	0.0000177	3589
Loss of Function	6.07	12	64.7	0.185	0.00000325	934

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000133	0.000132
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000688	0.0000653
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to type II regulatory subunits of protein kinase A and anchors/targets them.
• Pathway: G Protein Signaling Pathways (Consensus)

Recessive Scores

• pRec: 0.0842

Intolerance Scores

• loftool: 0.444
• rvis_EVS: 1.45
• rvis_percentile_EVS: 95.1

Haploinsufficiency Scores

• pHI: 0.213
• hipred: Y
• hipred_score: 0.545
• ghis: 0.556

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.738

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Akap11
• Phenotype: renal/urinary system phenotype; skeleton phenotype; immune system phenotype; limbs/digits/tail phenotype; hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: intracellular signal transduction
• Cellular component: nucleolus;cytoplasm;peroxisome;microtubule organizing center;cytosol;plasma membrane
• Molecular function: protein binding;protein phosphatase 1 binding;protein kinase A binding