ANXA3
Basic information
Region (hg38): 4:78551747-78610451
Previous symbols: [ "ANX3" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (52 variants)
- not_provided (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANXA3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005139.3. 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 | 51 | 55 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 51 | 2 | 2 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ANXA3 | protein_coding | protein_coding | ENST00000264908 | 12 | 58925 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
6.52e-12 | 0.123 | 125580 | 0 | 164 | 125744 | 0.000652 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.109 | 166 | 170 | 0.977 | 0.00000838 | 2102 |
Missense in Polyphen | 62 | 65.236 | 0.9504 | 814 | ||
Synonymous | -0.206 | 65 | 62.9 | 1.03 | 0.00000324 | 589 |
Loss of Function | 0.603 | 19 | 22.1 | 0.861 | 0.00000123 | 260 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00201 | 0.00201 |
Ashkenazi Jewish | 0.00417 | 0.00418 |
East Asian | 0.000873 | 0.000870 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000274 | 0.000264 |
Middle Eastern | 0.000873 | 0.000870 |
South Asian | 0.000459 | 0.000457 |
Other | 0.000823 | 0.000815 |
dbNSFP
Source:
- Function
- FUNCTION: Inhibitor of phospholipase A2, also possesses anti- coagulant properties. Also cleaves the cyclic bond of inositol 1,2-cyclic phosphate to form inositol 1-phosphate.;
- Pathway
- Prostaglandin Synthesis and Regulation
(Consensus)
Recessive Scores
- pRec
- 0.170
Intolerance Scores
- loftool
- 0.912
- rvis_EVS
- 1.24
- rvis_percentile_EVS
- 93.35
Haploinsufficiency Scores
- pHI
- 0.134
- hipred
- N
- hipred_score
- 0.199
- ghis
- 0.406
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.736
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Anxa3
- Phenotype
- limbs/digits/tail phenotype; vision/eye 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);
Gene ontology
- Biological process
- phagocytosis;homophilic cell adhesion via plasma membrane adhesion molecules;positive regulation of endothelial cell migration;hippocampus development;animal organ regeneration;defense response to bacterium;negative regulation of catalytic activity;neutrophil degranulation;positive regulation of angiogenesis;positive regulation of DNA metabolic process;positive regulation of DNA-binding transcription factor activity;response to glucocorticoid;response to growth factor;regulation of NMDA receptor activity
- Cellular component
- cytoplasm;cytosol;plasma membrane;membrane;axon;dendrite;phagocytic vesicle membrane;specific granule;neuronal cell body;extracellular exosome
- Molecular function
- calcium ion binding;calcium-dependent phospholipid binding;phospholipase A2 inhibitor activity;calcium-dependent protein binding