AKAP12
Basic information
Region (hg38): 6:151239966-151358559
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (69 variants)
- not provided (19 variants)
- Preeclampsia (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKAP12 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 | 7 | |||||
| missense | 63 | 12 | 80 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 1 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region ? | 0 | |||||
| non coding ? | 0 | |||||
| Total | 0 | 0 | 63 | 13 | 12 |
Variants in AKAP12
This is a list of pathogenic ClinVar variants found in the AKAP12 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AKAP12 | protein_coding | protein_coding | ENST00000402676 | 3 | 118559 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0357 | 0.964 | 125713 | 0 | 35 | 125748 | 0.000139 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.575 | 882 | 931 | 0.947 | 0.0000516 | 11583 |
| Missense in Polyphen | 205 | 237.74 | 0.86228 | 2922 | ||
| Synonymous | -0.125 | 395 | 392 | 1.01 | 0.0000271 | 3557 |
| Loss of Function | 4.61 | 12 | 45.6 | 0.263 | 0.00000207 | 671 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000211 | 0.000210 |
| Ashkenazi Jewish | 0.000102 | 0.0000992 |
| East Asian | 0.000435 | 0.000272 |
| Finnish | 0.000231 | 0.000231 |
| European (Non-Finnish) | 0.000123 | 0.000123 |
| Middle Eastern | 0.000435 | 0.000272 |
| South Asian | 0.0000992 | 0.0000980 |
| Other | 0.000326 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) and protein kinase C (PKC).;
- Pathway
- G Protein Signaling Pathways
(Consensus)
Recessive Scores
- pRec
- 0.118
Intolerance Scores
- loftool
- 0.536
- rvis_EVS
- 0.91
- rvis_percentile_EVS
- 89.55
Haploinsufficiency Scores
- pHI
- 0.407
- hipred
- Y
- hipred_score
- 0.545
- ghis
- 0.443
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.719
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Akap12
- Phenotype
- muscle phenotype; endocrine/exocrine gland phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; respiratory system phenotype; immune system 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); 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); hematopoietic system phenotype; normal 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); reproductive system phenotype;
Zebrafish Information Network
- Gene name
- akap12b
- Affected structure
- mesodermal cell
- Phenotype tag
- abnormal
- Phenotype quality
- increased amount
Gene ontology
- Biological process
- protein targeting;G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;regulation of protein kinase A signaling;positive regulation of protein kinase A signaling;modulation of chemical synaptic transmission;regulation of protein kinase C signaling
- Cellular component
- cytoplasm;cytosol;cytoskeleton;plasma membrane;focal adhesion;cell cortex;Schaffer collateral - CA1 synapse
- Molecular function
- protein binding;adenylate cyclase binding;protein kinase A binding