IFNE

interferon epsilon

Basic information

Region (hg38): 9:21480839-21482313

Links

ENSG00000184995 ∙ NCBI:338376 ∙ OMIM:615223 ∙ HGNC:18163 ∙ Uniprot:Q86WN2 ∙ 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 IFNE gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFNE 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			18	2		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	2	0

Variants in IFNE

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

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

Position	Type	Phenotype	Significance	ClinVar
9-21481174-C-T		not specified	Uncertain significance (May 03, 2023)
9-21481246-C-T		not specified	Uncertain significance (Aug 04, 2024)
9-21481249-C-T		not specified	Likely benign (Oct 05, 2022)
9-21481250-G-C		not specified	Uncertain significance (Aug 02, 2021)
9-21481260-T-A		IFNE-related disorder	Likely benign (Apr 14, 2023)
9-21481291-A-G		not specified	Uncertain significance (Feb 15, 2023)
9-21481304-G-T		not specified	Uncertain significance (Aug 21, 2023)
9-21481328-G-C		not specified	Uncertain significance (Dec 04, 2024)
9-21481332-T-A		not specified	Uncertain significance (Jun 28, 2024)
9-21481367-G-C		not specified	Uncertain significance (Dec 14, 2021)
9-21481368-G-T		not specified	Uncertain significance (Jul 05, 2023)
9-21481378-G-A		not specified	Likely benign (Dec 02, 2022)
9-21481385-T-C		not specified	Uncertain significance (Jan 23, 2023)
9-21481417-C-T		not specified	Uncertain significance (Apr 18, 2023)
9-21481442-G-A		not specified	Uncertain significance (Nov 17, 2022)
9-21481466-T-G		not specified	Uncertain significance (Dec 14, 2022)
9-21481499-A-C		not specified	Uncertain significance (Oct 12, 2024)
9-21481508-G-C		not specified	Uncertain significance (May 31, 2023)
9-21481573-A-C		not specified	Uncertain significance (Mar 31, 2024)
9-21481628-C-G		not specified	Uncertain significance (Jun 17, 2024)
9-21481645-G-A		not specified	Uncertain significance (Jan 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IFNE	protein_coding	protein_coding	ENST00000448696	1	1472

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0147	0.700	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.715	123	103	1.20	0.00000472	1383
Missense in Polyphen		30	22.446	1.3365		351
Synonymous	-1.43	52	40.4	1.29	0.00000200	387
Loss of Function	0.634	3	4.44	0.675	1.89e-7	55

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Type I interferon required for maintaining basal levels of IFN-regulated genes, including 2'-5'-oligoadenylate synthetase, IRF7 and ISG15, in the female reproductive tract. Directly mediates protection against viral and bacterial genital infections (By similarity). {ECO:0000250}.
• Pathway: Jak-STAT signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);RIG-I-like receptor signaling pathway - Homo sapiens (human);RIG-I-like Receptor Signaling (Consensus)

Intolerance Scores

• loftool: 0.810
• rvis_EVS: 0.64
• rvis_percentile_EVS: 83.78

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0651

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ifne
• Phenotype: hematopoietic 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)

Gene ontology

• Biological process: adaptive immune response;T cell activation involved in immune response;natural killer cell activation involved in immune response;humoral immune response;regulation of signaling receptor activity;cytokine-mediated signaling pathway;B cell differentiation;positive regulation of peptidyl-serine phosphorylation of STAT protein;B cell proliferation;defense response to bacterium;response to exogenous dsRNA;defense response to virus
• Cellular component: extracellular space
• Molecular function: cytokine activity;type I interferon receptor binding