AKAP10
Basic information
Region (hg38): 17:19904302-19978343
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKAP10 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 | 3 | |||||
missense | 32 | 35 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | 1 | 3 | ||
non coding | 0 | |||||
Total | 0 | 0 | 32 | 3 | 3 |
Variants in AKAP10
This is a list of pathogenic ClinVar variants found in the AKAP10 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-19909192-T-C | Uncertain significance (Dec 26, 2021) | |||
17-19909201-G-T | not specified | Uncertain significance (Jun 28, 2023) | ||
17-19909218-T-C | not specified | Uncertain significance (Nov 18, 2023) | ||
17-19909228-T-C | • AKAP10-related disorder | Conflicting classifications of pathogenicity (Oct 17, 2019) | ||
17-19924409-C-T | not specified | Uncertain significance (May 26, 2024) | ||
17-19924466-T-C | not specified | Uncertain significance (Jan 24, 2023) | ||
17-19924468-G-A | not specified | Uncertain significance (Dec 21, 2022) | ||
17-19931799-C-T | AKAP10-related disorder | Benign (Oct 21, 2019) | ||
17-19931816-A-C | not specified | Uncertain significance (Sep 26, 2023) | ||
17-19931837-G-A | not specified | Uncertain significance (Mar 08, 2024) | ||
17-19931840-A-T | not specified | Uncertain significance (Dec 02, 2022) | ||
17-19931863-C-A | not specified | Uncertain significance (Apr 09, 2024) | ||
17-19931878-G-A | AKAP10-related disorder | Benign (Nov 20, 2019) | ||
17-19931890-C-T | not specified | Uncertain significance (Mar 25, 2024) | ||
17-19936281-G-T | Conduction disorder of the heart | Uncertain significance (-) | ||
17-19936311-C-T | not specified | Uncertain significance (Aug 15, 2023) | ||
17-19936434-T-C | AKAP10-related disorder | Likely benign (Mar 14, 2019) | ||
17-19939808-C-G | not specified | Uncertain significance (Dec 19, 2022) | ||
17-19939809-C-A | not specified | Uncertain significance (Dec 19, 2022) | ||
17-19939814-T-C | AKAP10-related disorder | Likely benign (Apr 24, 2020) | ||
17-19940965-C-G | not specified | Uncertain significance (Aug 08, 2023) | ||
17-19941866-C-T | not specified | Uncertain significance (Oct 25, 2023) | ||
17-19941867-G-A | AKAP10-related disorder | Likely benign (Sep 23, 2019) | ||
17-19941874-T-C | not specified | Uncertain significance (May 23, 2024) | ||
17-19941889-C-T | not specified | Uncertain significance (Jun 16, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
AKAP10 | protein_coding | protein_coding | ENST00000225737 | 15 | 74042 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.108 | 0.892 | 125733 | 0 | 15 | 125748 | 0.0000596 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.35 | 263 | 332 | 0.791 | 0.0000163 | 4362 |
Missense in Polyphen | 60 | 107.2 | 0.55971 | 1399 | ||
Synonymous | -0.379 | 126 | 121 | 1.04 | 0.00000647 | 1241 |
Loss of Function | 4.13 | 9 | 35.6 | 0.253 | 0.00000200 | 415 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000868 | 0.0000868 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000218 | 0.000217 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000616 | 0.0000615 |
Middle Eastern | 0.000218 | 0.000217 |
South Asian | 0.00 | 0.00 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain, it could lead to the interaction to G-alpha proteins, providing a link between the signaling machinery and the downstream kinase (By similarity). {ECO:0000250}.;
- Disease
- DISEASE: Sudden cardiac death (SCD) [MIM:115080]: Unexpected rapid death due to cardiovascular collapse in a short time period, generally within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as chest pain and cardiac arrhythmias, particularly ventricular tachycardia, can lead to the loss of consciousness and cardiac arrest followed by biological death. {ECO:0000269|PubMed:17485678}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Increased susceptibility to sudden cardiac death may be conferred by AKAP10 variants that are associated with markers of low vagus nerve sensitivity, e.g. fast basal heart rate and low heart rate variability.;
- Pathway
- G Protein Signaling Pathways;Factors involved in megakaryocyte development and platelet production;Hemostasis
(Consensus)
Recessive Scores
- pRec
- 0.131
Intolerance Scores
- loftool
- 0.564
- rvis_EVS
- 0.0000761
- rvis_percentile_EVS
- 53.98
Haploinsufficiency Scores
- pHI
- 0.452
- hipred
- Y
- hipred_score
- 0.696
- ghis
- 0.579
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.956
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | Medium | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Akap10
- Phenotype
- vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); liver/biliary system phenotype; embryo 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); growth/size/body region phenotype; 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); craniofacial phenotype;
Zebrafish Information Network
- Gene name
- akap10
- Affected structure
- thrombocyte
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- signal transduction;blood coagulation;protein localization
- Cellular component
- mitochondrion;cytosol;plasma membrane;protein-containing complex
- Molecular function
- protein binding;protein kinase A binding