IFI44

interferon induced protein 44, the group of TLDc domain containing

Basic information

Region (hg38): 1:78649796-78664078

Links

ENSG00000137965 ∙ NCBI:10561 ∙ OMIM:610468 ∙ HGNC:16938 ∙ Uniprot:Q8TCB0 ∙ 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 IFI44 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFI44 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
missense			27	3		30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	3	1

Variants in IFI44

This is a list of pathogenic ClinVar variants found in the IFI44 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-78650205-A-G		not specified	Uncertain significance (Jun 30, 2022)
1-78650211-C-T		not specified	Uncertain significance (May 31, 2023)
1-78650212-G-A		not specified	Uncertain significance (Nov 03, 2023)
1-78650229-G-A		not specified	Uncertain significance (Apr 12, 2022)
1-78650263-G-A		not specified	Likely benign (Jun 12, 2023)
1-78650276-C-G			Benign (Feb 20, 2018)
1-78650302-G-A		not specified	Uncertain significance (Sep 29, 2023)
1-78650386-A-G		not specified	Uncertain significance (Jul 05, 2023)
1-78650396-G-T		not specified	Uncertain significance (May 30, 2024)
1-78650473-G-T		not specified	Uncertain significance (Dec 01, 2022)
1-78650485-C-CA		Susceptibility to severe COVID-19	Likely risk allele (Jul 01, 2022)
1-78650494-T-C		not specified	Uncertain significance (Oct 28, 2024)
1-78650529-A-G		not specified	Uncertain significance (Sep 20, 2024)
1-78650565-A-T		not specified	Uncertain significance (Aug 02, 2021)
1-78650568-A-G		not specified	Uncertain significance (Dec 14, 2023)
1-78650577-A-G		not specified	Uncertain significance (Oct 12, 2021)
1-78650614-C-G		not specified	Uncertain significance (Sep 29, 2023)
1-78650619-T-G		not specified	Uncertain significance (Apr 18, 2023)
1-78650629-A-T		not specified	Uncertain significance (Apr 07, 2022)
1-78654265-A-G		not specified	Likely benign (Jun 30, 2022)
1-78655061-G-T		not specified	Uncertain significance (Apr 23, 2024)
1-78655102-A-G		not specified	Likely benign (Oct 08, 2024)
1-78655103-T-C		not specified	Uncertain significance (Feb 09, 2023)
1-78655163-C-T		not specified	Uncertain significance (Jun 22, 2023)
1-78655165-C-T		not specified	Uncertain significance (Jul 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IFI44	protein_coding	protein_coding	ENST00000370747	8	14283

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.94e-15	0.00775	125618	0	121	125739	0.000481

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.30	290	234	1.24	0.0000114	2903
Missense in Polyphen		72	54.314	1.3256		720
Synonymous	-1.41	105	88.1	1.19	0.00000469	855
Loss of Function	-0.207	22	21.0	1.05	0.00000121	252

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00106	0.00106
Ashkenazi Jewish	0.000397	0.000397
East Asian	0.0000545	0.0000544
Finnish	0.000103	0.0000924
European (Non-Finnish)	0.000317	0.000290
Middle Eastern	0.0000545	0.0000544
South Asian	0.00201	0.00183
Other	0.000701	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: This protein aggregates to form microtubular structures. {ECO:0000250}.

Recessive Scores

• pRec: 0.0767

Intolerance Scores

• loftool: 0.945
• rvis_EVS: -0.84
• rvis_percentile_EVS: 11.28

Haploinsufficiency Scores

• pHI: 0.0411
• hipred: N
• hipred_score: 0.112
• ghis: 0.522

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.144

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ifi44
• 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); immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: immune response;response to virus;response to bacterium
• Cellular component: cytoplasm