AIF1

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

Basic information

Region (hg38): 6:31615217-31617021

Links

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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 8.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_001623.5	NP_001614.3	6	yes	-
ENST00000376059.8	ENSP00000365227.3	6	yes	-
NM_032955.3	NP_116573.1	3	-	-
NM_001318970.2	NP_001305899.1	3	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

• not_specified (19 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. These statistics are base on transcript: NM_001623.5. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			8	1		9
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6			6
Total	0	0	14	1	0

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
		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

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

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