IFNB1

interferon beta 1, the group of Interferons

Basic information

Region (hg38): 9:21077104-21077942

Previous symbols: [ "IFNB" ]

Links

ENSG00000171855 ∙ NCBI:3456 ∙ OMIM:147640 ∙ HGNC:5434 ∙ Uniprot:P01574 ∙ 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 IFNB1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFNB1 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					2	2
missense			8		2	10
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	4

Variants in IFNB1

This is a list of pathogenic ClinVar variants found in the IFNB1 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-21077372-T-C			Benign (Jun 26, 2018)
9-21077409-A-C		not specified	Uncertain significance (Dec 16, 2023)
9-21077424-C-T		not specified	Uncertain significance (Jul 30, 2024)
9-21077446-G-T		not specified	Uncertain significance (Aug 02, 2021)
9-21077448-A-C		not specified	Uncertain significance (May 20, 2024)
9-21077449-G-C		not specified	Uncertain significance (Dec 03, 2024)
9-21077457-A-G		not specified	Uncertain significance (Feb 16, 2023)
9-21077467-C-A		Multisystem inflammatory syndrome in children	Uncertain significance (Mar 01, 2024)
9-21077529-T-C		not specified	Uncertain significance (Feb 22, 2023)
9-21077548-G-A		not specified	Uncertain significance (Oct 05, 2022)
9-21077604-G-A		not specified	Uncertain significance (Sep 08, 2024)
9-21077638-A-G			Benign (Aug 04, 2018)
9-21077642-G-A			Benign (Dec 31, 2019)
9-21077690-G-T			Benign (Jun 26, 2018)
9-21077692-C-T		not specified	Uncertain significance (Dec 14, 2021)
9-21077713-G-C		not specified	Uncertain significance (Jul 12, 2023)
9-21077741-C-G		not specified	Uncertain significance (Aug 28, 2024)
9-21077790-A-G		not specified	Uncertain significance (Apr 19, 2024)
9-21077800-A-G		not specified	Uncertain significance (Sep 25, 2024)
9-21077802-C-G		not specified	Uncertain significance (May 07, 2024)
9-21077861-G-C		not specified	Uncertain significance (Aug 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IFNB1	protein_coding	protein_coding	ENST00000380232	1	840

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.759	112	91.6	1.22	0.00000414	1248
Missense in Polyphen		19	24.186	0.78557		365
Synonymous	-1.74	49	35.8	1.37	0.00000166	335
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has antiviral, antibacterial and anticancer activities.
• Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Jak-STAT signaling pathway - Homo sapiens (human);Influenza A - Homo sapiens (human);Cytosolic DNA-sensing pathway - Homo sapiens (human);Chagas disease (American trypanosomiasis) - Homo sapiens (human);Necroptosis - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Measles - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);RIG-I-like receptor signaling pathway - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human);JAK-STAT-Core;Osteoclast Signaling;Regulation of toll-like receptor signaling pathway;EBV LMP1 signaling;TLR4 Signaling and Tolerance;RIG-I-like Receptor Signaling;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;Fibrin Complement Receptor 3 Signaling Pathway;PI3K-Akt Signaling Pathway;Cytokines and Inflammatory Response;Senescence and Autophagy in Cancer;Type II interferon signaling (IFNG);Toll-like Receptor Signaling Pathway;double stranded rna induced gene expression;the information processing pathway at the ifn beta enhancer;signal transduction through il1r;ifn alpha signaling pathway;Cytokine Signaling in Immune system;JAK STAT MolecularVariation 1;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Immune System;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;bone remodeling;JAK STAT pathway and regulation;GPCR signaling-G alpha i;Regulation of IFNA signaling;Interferon alpha/beta signaling;Interferon Signaling;Regulation of nuclear SMAD2/3 signaling (Consensus)

Recessive Scores

• pRec: 0.0914

Intolerance Scores

• loftool: 0.540
• rvis_EVS: 0.42
• rvis_percentile_EVS: 76.81

Haploinsufficiency Scores

• pHI: 0.0768
• hipred: N
• hipred_score: 0.254

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0496

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ifnb1
• Phenotype: neoplasm; normal phenotype; hematopoietic system 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); skeleton phenotype; immune system phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: adaptive immune response;T cell activation involved in immune response;B cell activation involved in immune response;natural killer cell activation involved in immune response;humoral immune response;cell surface receptor signaling pathway;blood coagulation;response to virus;regulation of signaling receptor activity;cytokine-mediated signaling pathway;natural killer cell activation;B cell differentiation;positive regulation of peptidyl-serine phosphorylation of STAT protein;cellular response to interferon-beta;B cell proliferation;response to exogenous dsRNA;negative regulation of viral genome replication;positive regulation of innate immune response;regulation of MHC class I biosynthetic process;negative regulation of T cell differentiation;positive regulation of transcription by RNA polymerase II;defense response to virus;type I interferon signaling pathway;cellular response to exogenous dsRNA;negative regulation of T-helper 2 cell cytokine production;positive regulation of apoptotic signaling pathway
• Cellular component: extracellular region;extracellular space
• Molecular function: cytokine activity;type I interferon receptor binding;chloramphenicol O-acetyltransferase activity