AIF1L

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

Basic information

Region (hg38): 9:131096476-131123152

Previous symbols: [ "C9orf58" ]

Links

ENSG00000126878 ∙ NCBI:83543 ∙ ∙ HGNC:28904 ∙ Uniprot:Q9BQI0 ∙ 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 AIF1L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AIF1L 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	7	0	0

Variants in AIF1L

This is a list of pathogenic ClinVar variants found in the AIF1L region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-131096634-C-T		not specified	Uncertain significance (Jan 06, 2023)
9-131096648-A-G		not specified	Uncertain significance (Dec 04, 2023)
9-131096837-G-C		not specified	Uncertain significance (May 23, 2024)
9-131096861-C-T		not specified	Uncertain significance (Jun 06, 2023)
9-131106192-G-A		not specified	Uncertain significance (Dec 27, 2022)
9-131114589-A-T		not specified	Uncertain significance (Jan 26, 2022)
9-131117870-G-A		not specified	Uncertain significance (Oct 10, 2023)
9-131120288-C-T		not specified	Uncertain significance (Feb 09, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AIF1L	protein_coding	protein_coding	ENST00000372309	7	26677

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00637	0.919	125728	0	13	125741	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.299	81	88.9	0.911	0.00000432	1160
Missense in Polyphen		33	31.254	1.0559		415
Synonymous	0.291	31	33.1	0.936	0.00000171	309
Loss of Function	1.53	5	10.3	0.485	5.20e-7	135

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000720	0.0000703
Middle Eastern	0.0000545	0.0000544
South Asian	0.0000330	0.0000327
Other	0.000332	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Actin-binding protein that promotes actin bundling. May neither bind calcium nor depend on calcium for function. {ECO:0000269|PubMed:18699778}.

Recessive Scores

• pRec: 0.0989

Intolerance Scores

• loftool: 0.527
• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.22

Haploinsufficiency Scores

• pHI: 0.211
• hipred: N
• hipred_score: 0.292
• ghis: 0.406

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 1.00

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Aif1l
• Phenotype: hematopoietic system phenotype; liver/biliary system phenotype; immune system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype

Gene ontology

• Biological process: actin filament bundle assembly;ruffle assembly
• Cellular component: cytoplasm;actin filament;focal adhesion;actin cytoskeleton;ruffle membrane;protein-containing complex;cell projection;extracellular exosome
• Molecular function: calcium ion binding;actin filament binding