ANXA5
annexin A5, the group of Annexins
Basic information
Region (hg38): 4:121667946-121696995
Previous symbols: [ "ENX2", "ANX5" ]
Links
Phenotypes
GenCC
Source:
- pregnancy loss, recurrent, susceptibility to, 3 (Disputed Evidence), mode of inheritance: Unknown
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (35 variants)
- not_provided (3 variants)
- ANXA5-related_disorder (1 variants)
- Pregnancy_loss,_recurrent,_susceptibility_to,_3 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANXA5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001154.4. 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 | 2 | |||||
| missense | 40 | 42 | ||||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 6 | |||||
| Total | 0 | 0 | 47 | 3 | 1 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ANXA5 | protein_coding | protein_coding | ENST00000296511 | 12 | 29159 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 3.80e-15 | 0.0115 | 125520 | 1 | 224 | 125745 | 0.000895 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.551 | 149 | 169 | 0.881 | 0.00000847 | 2068 |
| Missense in Polyphen | 63 | 72.459 | 0.86946 | 891 | ||
| Synonymous | 0.258 | 55 | 57.5 | 0.957 | 0.00000257 | 611 |
| Loss of Function | -0.0562 | 22 | 21.7 | 1.01 | 0.00000117 | 254 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000923 | 0.000913 |
| Ashkenazi Jewish | 0.00675 | 0.00677 |
| East Asian | 0.000381 | 0.000381 |
| Finnish | 0.000648 | 0.000647 |
| European (Non-Finnish) | 0.000723 | 0.000721 |
| Middle Eastern | 0.000381 | 0.000381 |
| South Asian | 0.00112 | 0.00108 |
| Other | 0.000492 | 0.000489 |
dbNSFP
Source:
- Function
- FUNCTION: This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade.;
- Disease
- DISEASE: Pregnancy loss, recurrent, 3 (RPRGL3) [MIM:614391]: A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. {ECO:0000269|PubMed:17339269}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.;
- Pathway
- Apoptosis-related network due to altered Notch3 in ovarian cancer;Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway;Prostaglandin Synthesis and Regulation;Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis
(Consensus)
Recessive Scores
- pRec
- 0.464
Intolerance Scores
- loftool
- 0.896
- rvis_EVS
- 0.13
- rvis_percentile_EVS
- 63.2
Haploinsufficiency Scores
- pHI
- 0.439
- hipred
- Y
- hipred_score
- 0.564
- ghis
- 0.521
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.801
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Anxa5
- Phenotype
- hematopoietic system phenotype; normal phenotype; immune system phenotype; skeleton phenotype; limbs/digits/tail phenotype;
Gene ontology
- Biological process
- platelet degranulation;signal transduction;blood coagulation;response to organic substance;negative regulation of blood coagulation;positive regulation of apoptotic process;negative regulation of apoptotic process;negative regulation of catalytic activity;protein homooligomerization;negative regulation of sequestering of calcium ion;response to calcium ion;calcium ion transmembrane transport;cellular response to lead ion;response to thyroid hormone;cellular response to gonadotropin-releasing hormone;ATP hydrolysis coupled cation transmembrane transport;regulation of flagellated sperm motility;negative regulation of prolactin secretion
- Cellular component
- extracellular region;cytoplasm;cytosol;focal adhesion;external side of plasma membrane;membrane;collagen-containing extracellular matrix;extracellular exosome;endothelial microparticle
- Molecular function
- phospholipase inhibitor activity;calcium-transporting ATPase activity;calcium ion binding;protein binding;phospholipid binding;calcium-dependent phospholipid binding;heparin binding;peptide hormone binding;receptor tyrosine kinase binding;molecular adaptor activity