AKAP7

A-kinase anchoring protein 7, the group of A-kinase anchoring proteins

Basic information

Region (hg38): 6:131135467-131283535

Links

ENSG00000118507 ∙ NCBI:9465 ∙ OMIM:604693 ∙ HGNC:377 ∙ Uniprot:O43687, Q9P0M2 ∙ 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 AKAP7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKAP7 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			11	1		12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	1	0

Variants in AKAP7

This is a list of pathogenic ClinVar variants found in the AKAP7 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-131145290-A-G		not specified	Uncertain significance (Jun 26, 2023)
6-131145300-A-G		not specified	Likely benign (Oct 29, 2024)
6-131145304-G-C		not specified	Uncertain significance (Dec 06, 2022)
6-131145356-A-G		not specified	Uncertain significance (Feb 28, 2024)
6-131145359-A-G		not specified	Likely benign (May 28, 2024)
6-131145372-T-G		not specified	Uncertain significance (Jan 02, 2024)
6-131145408-A-G		not specified	Uncertain significance (Jun 25, 2024)
6-131160069-A-T		not specified	Uncertain significance (Mar 11, 2022)
6-131160114-G-C		not specified	Uncertain significance (May 13, 2024)
6-131160116-G-A		not specified	Uncertain significance (May 02, 2024)
6-131165091-G-T		not specified	Uncertain significance (Sep 10, 2024)
6-131165183-G-A		not specified	Uncertain significance (May 05, 2023)
6-131169256-C-T		not specified	Uncertain significance (Nov 27, 2023)
6-131199538-A-C		not specified	Uncertain significance (Oct 22, 2024)
6-131219692-A-C		not specified	Uncertain significance (Aug 22, 2023)
6-131219726-A-G		not specified	Likely benign (Oct 05, 2023)
6-131219730-T-A		not specified	Uncertain significance (Aug 21, 2023)
6-131219736-A-G		not specified	Uncertain significance (Dec 10, 2024)
6-131281574-C-T		not specified	Uncertain significance (Feb 27, 2023)
6-131281658-G-A		not specified	Uncertain significance (Aug 14, 2024)
6-131281682-G-A		not specified	Uncertain significance (Oct 07, 2024)
6-131281691-C-G		not specified	Uncertain significance (Mar 31, 2024)
6-131281712-A-G		not specified	Uncertain significance (Nov 11, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKAP7	protein_coding	protein_coding	ENST00000431975	8	147870

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.89e-7	0.531	125700	0	42	125742	0.000167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.168	164	170	0.964	0.00000789	2308
Missense in Polyphen		57	60.726	0.93864		798
Synonymous	0.853	53	61.5	0.862	0.00000312	600
Loss of Function	0.907	12	15.9	0.755	7.47e-7	233

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000684	0.000680
Ashkenazi Jewish	0.00	0.00
East Asian	0.000169	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000198	0.000193
Middle Eastern	0.000169	0.000163
South Asian	0.000101	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Targets the cAMP-dependent protein kinase (PKA) to the plasma membrane, and permits functional coupling to the L-type calcium channel. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium. {ECO:0000269|PubMed:10613906, ECO:0000269|PubMed:17244820, ECO:0000269|PubMed:9545239}.
• Pathway: G Protein Signaling Pathways (Consensus)

Recessive Scores

• pRec: 0.0991

Intolerance Scores

• loftool: 0.522
• rvis_EVS: 1.64
• rvis_percentile_EVS: 96.13

Haploinsufficiency Scores

• pHI: 0.175
• hipred: N
• hipred_score: 0.146
• ghis: 0.425

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.554

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Akap7
• Phenotype: normal phenotype

Gene ontology

• Biological process: biological_process;regulation of protein kinase A signaling;modulation of chemical synaptic transmission
• Cellular component: nucleus;cytosol;protein-containing complex;hippocampal mossy fiber to CA3 synapse
• Molecular function: nucleotide binding;protein binding;protein kinase binding;protein kinase A regulatory subunit binding;protein kinase A binding