ANXA6
Basic information
Region (hg38): 5:151100706-151157815
Previous symbols: [ "ANX6" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (106 variants)
- not_provided (11 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANXA6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001155.5. 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 | 6 | |||||
| missense | 105 | 108 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 105 | 9 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ANXA6 | protein_coding | protein_coding | ENST00000354546 | 25 | 57171 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.08e-8 | 0.999 | 125458 | 0 | 39 | 125497 | 0.000155 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.636 | 368 | 404 | 0.911 | 0.0000242 | 4422 |
| Missense in Polyphen | 139 | 164.96 | 0.84262 | 1783 | ||
| Synonymous | 1.29 | 128 | 148 | 0.865 | 0.00000869 | 1238 |
| Loss of Function | 3.01 | 20 | 40.7 | 0.491 | 0.00000186 | 501 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000538 | 0.000520 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000230 | 0.000218 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000109 | 0.000106 |
| Middle Eastern | 0.000230 | 0.000218 |
| South Asian | 0.000366 | 0.000359 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May associate with CD21. May regulate the release of Ca(2+) from intracellular stores.;
- Pathway
- Calcium Regulation in the Cardiac Cell;Prostaglandin Synthesis and Regulation;Smooth Muscle Contraction;Muscle contraction
(Consensus)
Recessive Scores
- pRec
- 0.209
Intolerance Scores
- loftool
- 0.992
- rvis_EVS
- -1.13
- rvis_percentile_EVS
- 6.51
Haploinsufficiency Scores
- pHI
- 0.0941
- hipred
- Y
- hipred_score
- 0.706
- ghis
- 0.572
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.746
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Anxa6
- Phenotype
- vision/eye phenotype; limbs/digits/tail phenotype; skeleton phenotype; immune system phenotype; growth/size/body region phenotype; hematopoietic system 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); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); muscle phenotype; homeostasis/metabolism phenotype;
Zebrafish Information Network
- Gene name
- anxa6
- Affected structure
- muscle cell
- Phenotype tag
- abnormal
- Phenotype quality
- damaged
Gene ontology
- Biological process
- neural crest cell migration;plasma membrane repair;growth plate cartilage chondrocyte differentiation;regulation of muscle contraction;biomineral tissue development;ion transmembrane transport;protein homooligomerization;negative regulation of sequestering of calcium ion;mitochondrial calcium ion homeostasis;calcium ion import;calcium ion transmembrane transport;apoptotic signaling pathway
- Cellular component
- mitochondrion;lysosomal membrane;focal adhesion;membrane;late endosome membrane;melanosome;perinuclear region of cytoplasm;collagen-containing extracellular matrix;extracellular exosome
- Molecular function
- phosphatidylserine binding;calcium channel activity;calcium ion binding;protein binding;GTP binding;calcium-dependent phospholipid binding;heparin binding;lipid binding;ligand-gated ion channel activity;cholesterol binding;enzyme binding;chondroitin sulfate binding;signaling receptor activity;protein homodimerization activity;protein-containing complex binding;calcium-dependent protein binding;actin filament binding