AIF1

allograft inflammatory factor 1, the group of EF-hand domain containing

Basic information

Region (hg38): 6:31615216-31617021

Links

ENSG00000204472 ∙ NCBI:199 ∙ OMIM:601833 ∙ HGNC:352 ∙ Uniprot:P55008 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AIF1 gene.

• Inborn genetic diseases (10 variants)

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			3	1		4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			5	1		6
Total	0	0	8	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)
6-31616457-C-G		not specified	Uncertain significance (Oct 12, 2021)

GnomAD

Source: gnomAD

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: dbNSFP

• 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