AKAP6
Basic information
Region (hg38): 14:32329298-32837684
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (278 variants)
- not_provided (12 variants)
- AKAP6-related_Intellectual_Disability (1 variants)
- See_cases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKAP6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004274.5. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 4 | |||||
| missense | 266 | 17 | 286 | |||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 1 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 268 | 20 | 4 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AKAP6 | protein_coding | protein_coding | ENST00000280979 | 12 | 502089 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 0.000172 | 125715 | 0 | 28 | 125743 | 0.000111 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.0427 | 1195 | 1.19e+3 | 1.00 | 0.0000604 | 15338 |
| Missense in Polyphen | 437 | 483.35 | 0.90411 | 6369 | ||
| Synonymous | -1.00 | 484 | 457 | 1.06 | 0.0000244 | 4426 |
| Loss of Function | 7.22 | 14 | 86.5 | 0.162 | 0.00000492 | 1096 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000330 | 0.000330 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.0000926 | 0.0000924 |
| European (Non-Finnish) | 0.000142 | 0.000141 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the nuclear membrane or sarcoplasmic reticulum. May act as an adapter for assembling multiprotein complexes.;
- Pathway
- G Protein Signaling Pathways
(Consensus)
Recessive Scores
- pRec
- 0.127
Intolerance Scores
- loftool
- 0.282
- rvis_EVS
- 0.3
- rvis_percentile_EVS
- 71.65
Haploinsufficiency Scores
- pHI
- 0.665
- hipred
- Y
- hipred_score
- 0.746
- ghis
- 0.484
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.525
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | High | Medium | High |
| Cancer | High | Medium | High |
Mouse Genome Informatics
- Gene name
- Akap6
- Phenotype
- growth/size/body region phenotype; cellular phenotype; muscle phenotype; craniofacial 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); 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); normal phenotype;
Gene ontology
- Biological process
- action potential;protein targeting;regulation of protein kinase A signaling;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;cAMP-mediated signaling;positive regulation of cell growth;positive regulation of phosphoprotein phosphatase activity;positive regulation of release of sequestered calcium ion into cytosol;regulation of membrane repolarization;positive regulation of ryanodine-sensitive calcium-release channel activity;positive regulation of cell growth involved in cardiac muscle cell development;positive regulation of calcineurin-NFAT signaling cascade;cellular response to cAMP;cellular response to cytokine stimulus;positive regulation of potassium ion transmembrane transport;positive regulation of delayed rectifier potassium channel activity
- Cellular component
- nuclear envelope;cytoplasm;caveola;junctional sarcoplasmic reticulum membrane;intercalated disc;sarcoplasmic reticulum;T-tubule;nuclear membrane;calcium channel complex;perinuclear region of cytoplasm
- Molecular function
- protein binding;adenylate cyclase binding;protein-containing complex scaffold activity;protein kinase A regulatory subunit binding;protein membrane anchor;ion channel binding;protein kinase A binding