AIF1
allograft inflammatory factor 1, the group of EF-hand domain containing
Basic information
Region (hg38): 6:31615217-31617021
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AIF1 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 | 0 | |||||
| missense | 5 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 6 | |||||
| Total | 0 | 0 | 9 | 2 | 0 |
Variants in AIF1
This is a list of pathogenic ClinVar variants found in the AIF1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 6-31616118-T-C | not specified | Uncertain significance (Dec 07, 2023) | ||
| 6-31616166-G-C | not specified | Uncertain significance (Dec 14, 2021) | ||
| 6-31616280-C-T | not specified | Likely benign (Sep 01, 2021) | ||
| 6-31616299-A-G | not specified | Uncertain significance (Feb 09, 2023) | ||
| 6-31616302-G-C | not specified | Uncertain significance (Jul 20, 2021) | ||
| 6-31616308-C-T | not specified | Uncertain significance (Jun 23, 2023) | ||
| 6-31616310-C-T | not specified | Uncertain significance (Mar 06, 2023) | ||
| 6-31616347-T-C | not specified | Uncertain significance (Jan 26, 2023) | ||
| 6-31616362-G-A | not specified | Likely benign (Oct 05, 2022) | ||
| 6-31616403-C-A | not specified | Uncertain significance (Jul 29, 2023) | ||
| 6-31616416-T-C | not specified | Uncertain significance (May 10, 2024) | ||
| 6-31616457-C-G | not specified | Uncertain significance (Oct 12, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AIF1 | protein_coding | protein_coding | ENST00000376059 | 6 | 1838 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00000188 | 0.268 | 125657 | 3 | 88 | 125748 | 0.000362 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.216 | 72 | 77.3 | 0.931 | 0.00000371 | 969 |
| Missense in Polyphen | 28 | 26.31 | 1.0643 | 352 | ||
| Synonymous | 1.71 | 20 | 32.4 | 0.618 | 0.00000185 | 266 |
| Loss of Function | 0.151 | 9 | 9.50 | 0.947 | 4.99e-7 | 113 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000728 | 0.000728 |
| Ashkenazi Jewish | 0.0000993 | 0.0000992 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000172 | 0.000167 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.00155 | 0.00144 |
| Other | 0.000165 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Actin-binding protein that enhances membrane ruffling and RAC activation. Enhances the actin-bundling activity of LCP1. Binds calcium. Plays a role in RAC signaling and in phagocytosis. May play a role in macrophage activation and function. Promotes the proliferation of vascular smooth muscle cells and of T- lymphocytes. Enhances lymphocyte migration. Plays a role in vascular inflammation. {ECO:0000269|PubMed:15117732, ECO:0000269|PubMed:16049345, ECO:0000269|PubMed:18699778}.;
- Pathway
- Spinal Cord Injury;Protein alkylation leading to liver fibrosis
(Consensus)
Intolerance Scores
- loftool
- 0.860
- rvis_EVS
- 0.15
- rvis_percentile_EVS
- 64.11
Haploinsufficiency Scores
- pHI
- 0.673
- hipred
- N
- hipred_score
- 0.248
- ghis
- 0.598
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0996
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Aif1
- Phenotype
- vision/eye 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); skeleton phenotype; immune system 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); homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- microglial cell activation;positive regulation of protein phosphorylation;phagocytosis, engulfment;inflammatory response;negative regulation of gene expression;positive regulation of muscle hyperplasia;Rac protein signal transduction;cerebellum development;actin filament polymerization;cellular response to extracellular stimulus;cellular response to hormone stimulus;positive regulation of T cell proliferation;negative regulation of apoptotic process;positive regulation of nitric oxide biosynthetic process;positive regulation of smooth muscle cell proliferation;negative regulation of smooth muscle cell proliferation;response to axon injury;actin filament bundle assembly;response to glucocorticoid;response to electrical stimulus;cellular response to morphine;cellular response to interferon-gamma;cellular response to hydroperoxide;negative regulation of smooth muscle cell chemotaxis;positive regulation of smooth muscle cell chemotaxis;positive regulation of monocyte chemotaxis;ruffle assembly;positive regulation of G1/S transition of mitotic cell cycle;positive regulation of T cell migration
- Cellular component
- phagocytic cup;nucleus;cytoplasm;cytosol;actin filament;lamellipodium;ruffle membrane;cell projection;perikaryon;perinuclear region of cytoplasm
- Molecular function
- molecular_function;calcium ion binding;actin filament binding