CAP2
Basic information
Region (hg38): 6:17393595-17557780
Links
Phenotypes
GenCC
Source:
- familial isolated dilated cardiomyopathy (Supportive), mode of inheritance: AD
- cardiomyopathy, dilated, 2I (Moderate), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Cardiomyopathy, dilated, 2I | AR | Cardiovascular | The condition can involve structural cardiac anomalies, arrhthymias, and congestive heart failure, and awanress may be beneficial realed to medical management; Cardiac transplant has been described | Cardiovascular; Musculoskeletal | 30518548; 33083013; 34862840 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (56 variants)
- not_provided (6 variants)
- Cardiomyopathy,_dilated,_2I (6 variants)
- CAP2-associated_dilated_cardiomyopathy (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CAP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006366.3. 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 | 0 | |||||
| missense | 59 | 62 | ||||
| nonsense | 1 | |||||
| start loss | 1 | 1 | ||||
| frameshift | 1 | |||||
| splice donor/acceptor (+/-2bp) | 1 | |||||
| Total | 3 | 0 | 60 | 3 | 0 |
Highest pathogenic variant AF is 0.0000068271843
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CAP2 | protein_coding | protein_coding | ENST00000229922 | 12 | 164577 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.699 | 0.301 | 125733 | 0 | 13 | 125746 | 0.0000517 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.10 | 221 | 272 | 0.812 | 0.0000145 | 3141 |
| Missense in Polyphen | 77 | 119.43 | 0.64474 | 1408 | ||
| Synonymous | 0.532 | 93 | 99.8 | 0.932 | 0.00000589 | 906 |
| Loss of Function | 3.80 | 5 | 25.9 | 0.193 | 0.00000119 | 305 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000123 | 0.000123 |
| Ashkenazi Jewish | 0.0000992 | 0.0000992 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000887 | 0.0000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May have a regulatory bifunctional role.;
- Pathway
- Ectoderm Differentiation;Aryl Hydrocarbon Receptor Pathway;Nuclear Receptors Meta-Pathway;Developmental Biology;Signaling by ROBO receptors;Axon guidance;Role of ABL in ROBO-SLIT signaling
(Consensus)
Recessive Scores
- pRec
- 0.105
Intolerance Scores
- loftool
- 0.312
- rvis_EVS
- -0.05
- rvis_percentile_EVS
- 50.22
Haploinsufficiency Scores
- pHI
- 0.323
- hipred
- Y
- hipred_score
- 0.500
- ghis
- 0.524
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0194
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cap2
- 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; vision/eye phenotype; muscle phenotype; limbs/digits/tail phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype;
Zebrafish Information Network
- Gene name
- cap2
- Affected structure
- whole organism
- Phenotype tag
- abnormal
- Phenotype quality
- decreased length
Gene ontology
- Biological process
- cell morphogenesis;establishment or maintenance of cell polarity;signal transduction;activation of adenylate cyclase activity;actin polymerization or depolymerization
- Cellular component
- plasma membrane;postsynaptic density;cortical actin cytoskeleton
- Molecular function
- actin binding;protein binding;adenylate cyclase binding;identical protein binding