IFIT1B

interferon induced protein with tetratricopeptide repeats 1B, the group of Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 10:89378056-89385205

Previous symbols: [ "IFIT1L" ]

Links

ENSG00000204010 ∙ NCBI:439996 ∙ ∙ HGNC:23442 ∙ Uniprot:Q5T764 ∙ 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 IFIT1B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFIT1B 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			26	2	1	29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	2	1

Variants in IFIT1B

This is a list of pathogenic ClinVar variants found in the IFIT1B region.

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

Position	Type	Phenotype	Significance	ClinVar
10-89383337-G-C		not specified	Likely benign (Jun 13, 2024)
10-89383462-A-G		not specified	Uncertain significance (Jan 19, 2022)
10-89383494-G-T		not specified	Uncertain significance (Oct 05, 2023)
10-89383548-G-A		not specified	Uncertain significance (Oct 19, 2024)
10-89383591-G-A		not specified	Uncertain significance (Nov 13, 2024)
10-89383647-G-A		not specified	Uncertain significance (Feb 13, 2024)
10-89383651-A-C		not specified	Uncertain significance (Sep 27, 2024)
10-89383720-T-C		not specified	Uncertain significance (May 31, 2023)
10-89383724-G-C		not specified	Uncertain significance (Dec 22, 2023)
10-89383749-G-C		not specified	Uncertain significance (May 08, 2023)
10-89383805-T-G		not specified	Uncertain significance (Dec 22, 2023)
10-89383858-C-T		not specified	Uncertain significance (Dec 05, 2022)
10-89383872-C-T		not specified	Uncertain significance (Apr 07, 2022)
10-89383876-T-C			Benign (Mar 30, 2018)
10-89383884-T-C		not specified	Uncertain significance (Sep 24, 2024)
10-89383891-C-T		not specified	Likely benign (Dec 19, 2022)
10-89383938-G-T		not specified	Uncertain significance (Jun 21, 2022)
10-89383947-C-A		not specified	Uncertain significance (Apr 20, 2024)
10-89383966-A-G		not specified	Uncertain significance (Nov 08, 2024)
10-89384094-T-C		not specified	Uncertain significance (Aug 28, 2023)
10-89384106-G-C		not specified	Uncertain significance (Nov 10, 2024)
10-89384145-T-G		not specified	Uncertain significance (Jan 03, 2024)
10-89384184-A-G		not specified	Uncertain significance (Sep 27, 2021)
10-89384212-T-C		not specified	Uncertain significance (Apr 28, 2023)
10-89384219-C-G		not specified	Uncertain significance (Nov 14, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IFIT1B	protein_coding	protein_coding	ENST00000371809	2	7150

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000312	0.203	125687	0	55	125742	0.000219

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.236	254	244	1.04	0.0000124	3134
Missense in Polyphen		53	46.788	1.1328		650
Synonymous	0.167	90	92.0	0.978	0.00000462	882
Loss of Function	-0.641	6	4.53	1.33	1.90e-7	59

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00133	0.00133
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000440	0.0000440
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000985	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Pathway: Hepatitis C - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human) (Consensus)

Intolerance Scores

• rvis_EVS: 0.42
• rvis_percentile_EVS: 77.16

Haploinsufficiency Scores

• pHI: 0.0728
• hipred: N
• hipred_score: 0.112
• ghis: 0.386

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ifit1bl2

Gene ontology

• Biological process: defense response to virus
• Cellular component: cytosol
• Molecular function: protein binding