IFNA5

interferon alpha 5, the group of Interferons

Basic information

Region (hg38): 9:21304325-21305313

Links

ENSG00000147873 ∙ NCBI:3442 ∙ OMIM:147565 ∙ HGNC:5426 ∙ Uniprot:P01569 ∙ 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 IFNA5 gene.

• Inborn genetic diseases (7 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFNA5 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			6	1	1	8
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	6	1	2

Variants in IFNA5

This is a list of pathogenic ClinVar variants found in the IFNA5 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-21304743-T-G		not specified	Uncertain significance (Aug 21, 2023)
9-21304776-G-T		not specified	Uncertain significance (Jan 24, 2023)
9-21304811-C-T		not specified	Uncertain significance (May 03, 2023)
9-21304905-C-T		not specified	Uncertain significance (Dec 19, 2023)
9-21304911-G-T		not specified	Uncertain significance (Jul 28, 2021)
9-21304914-G-A			Benign (Aug 23, 2018)
9-21304949-G-A		not specified	Uncertain significance (Sep 14, 2022)
9-21304976-T-C		not specified	Uncertain significance (Dec 06, 2023)
9-21305021-A-G		not specified	Uncertain significance (Oct 14, 2021)
9-21305060-A-G			Benign (May 24, 2018)
9-21305072-G-A		not specified	Likely benign (Nov 22, 2023)
9-21305094-C-T		not specified	Likely benign (Jan 20, 2023)
9-21305116-G-C		not specified	Uncertain significance (Dec 18, 2023)
9-21305174-T-C		not specified	Uncertain significance (May 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IFNA5	protein_coding	protein_coding	ENST00000259555	1	700

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	-1.70	139	92.8	1.50	0.00000391	1248
Missense in Polyphen		24	19.403	1.2369		292
Synonymous	-1.12	43	34.6	1.24	0.00000149	352
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: Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase.
• 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);Autoimmune thyroid disease - Homo sapiens (human);Cytosolic DNA-sensing pathway - 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);Pathways in cancer - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Measles - 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);Regulation of toll-like receptor signaling pathway;PI3K-Akt Signaling Pathway;Toll-like Receptor 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;IFN alpha signaling;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;JAK STAT pathway and regulation;GPCR signaling-G alpha i;Regulation of IFNA signaling;Interferon alpha/beta signaling;Downstream signaling in naïve CD8+ T cells;Interferon Signaling (Consensus)

Intolerance Scores

• loftool: 0.684
• rvis_EVS: 0.68
• rvis_percentile_EVS: 84.93

Haploinsufficiency Scores

• pHI: 0.0186
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0794

Gene Damage Prediction

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

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;blood coagulation;regulation of signaling receptor activity;cytokine-mediated signaling pathway;B cell differentiation;positive regulation of peptidyl-serine phosphorylation of STAT protein;B cell proliferation;response to exogenous dsRNA;defense response to virus;type I interferon signaling pathway
• Cellular component: extracellular region;extracellular space
• Molecular function: cytokine activity;cytokine receptor binding;type I interferon receptor binding