IFI44L

interferon induced protein 44 like, the group of TLDc domain containing

Basic information

Region (hg38): 1:78619902-78646145

Previous symbols: [ "C1orf29" ]

Links

ENSG00000137959 ∙ NCBI:10964 ∙ OMIM:613975 ∙ HGNC:17817 ∙ Uniprot:Q53G44 ∙ 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 IFI44L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFI44L 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				1	1	2
missense			29	4	2	35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding				1		1
Total	0	0	30	6	3

Variants in IFI44L

This is a list of pathogenic ClinVar variants found in the IFI44L region.

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

Position	Type	Phenotype	Significance	ClinVar
1-78627929-C-T		not specified	Uncertain significance (Jun 22, 2024)
1-78627971-T-A		not specified	Uncertain significance (Apr 07, 2023)
1-78627976-A-T		not specified	Uncertain significance (Aug 13, 2021)
1-78628013-A-C		not specified	Uncertain significance (Jan 26, 2022)
1-78628014-T-C			Likely benign (Nov 01, 2022)
1-78628022-G-A		not specified	Uncertain significance (Oct 25, 2022)
1-78628037-T-C		not specified	Uncertain significance (Feb 06, 2023)
1-78628052-G-A		not specified	Likely benign (Aug 17, 2021)
1-78628088-A-G		not specified	Uncertain significance (May 27, 2022)
1-78628091-A-G			Likely benign (Apr 04, 2018)
1-78628232-A-G		not specified	Uncertain significance (Feb 06, 2024)
1-78628357-C-T			Benign (Apr 04, 2018)
1-78628358-G-A		not specified	Uncertain significance (Aug 13, 2021)
1-78628390-G-C		not specified	Uncertain significance (Oct 06, 2021)
1-78628974-A-G		not specified	Uncertain significance (Aug 02, 2021)
1-78629710-A-G			Likely benign (Jul 12, 2018)
1-78629722-A-G		not specified	Uncertain significance (Mar 30, 2024)
1-78629742-G-C		not specified	Uncertain significance (Apr 07, 2023)
1-78635392-T-G		not specified	Uncertain significance (Dec 18, 2023)
1-78635430-G-A		not specified	Uncertain significance (May 08, 2023)
1-78635431-G-T		not specified	Uncertain significance (May 08, 2023)
1-78635486-T-A		Multisystem inflammatory syndrome in children	risk factor (Nov 14, 2021)
1-78637042-G-A			Benign (Aug 24, 2018)
1-78637087-C-G		not specified	Uncertain significance (Oct 06, 2021)
1-78637108-G-C		not specified	Uncertain significance (Feb 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IFI44L	protein_coding	protein_coding	ENST00000370751	8	26224

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.35e-12	0.0264	125695	0	21	125716	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.21	299	246	1.22	0.0000124	2992
Missense in Polyphen		93	72.115	1.2896		994
Synonymous	0.155	81	82.8	0.978	0.00000409	835
Loss of Function	-0.0981	18	17.6	1.03	8.61e-7	244

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000432	0.000431
Ashkenazi Jewish	0.00	0.00
East Asian	0.000179	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000557	0.0000528
Middle Eastern	0.000179	0.000163
South Asian	0.000146	0.000131
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Exhibits a low antiviral activity against hepatitis C virus. {ECO:0000269|PubMed:21478870}.

Recessive Scores

• pRec: 0.0796

Intolerance Scores

• loftool: 0.922
• rvis_EVS: 1.73
• rvis_percentile_EVS: 96.61

Haploinsufficiency Scores

• pHI: 0.0760
• hipred: N
• hipred_score: 0.112
• ghis: 0.438

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0558

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ifi44l

Gene ontology

• Biological process: immune response;defense response to virus
• Cellular component: cellular_component;cytoplasm
• Molecular function: molecular_function;GTP binding