IFNA21

interferon alpha 21, the group of Interferons

Basic information

Region (hg38): 9:21165637-21166660

Links

ENSG00000137080NCBI:3452OMIM:147584HGNC:5424Uniprot:P01568AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IFNA21 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFNA21 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
19
clinvar
1
clinvar
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 19 1 0

Variants in IFNA21

This is a list of pathogenic ClinVar variants found in the IFNA21 region.

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

Position Type Phenotype Significance ClinVar
9-21166053-C-A not specified Uncertain significance (Mar 14, 2023)2496331
9-21166068-T-G not specified Uncertain significance (Feb 21, 2024)3108253
9-21166092-G-T not specified Uncertain significance (Jan 04, 2024)3108252
9-21166116-A-G not specified Uncertain significance (Jan 23, 2025)2344818
9-21166120-C-T not specified Uncertain significance (Sep 06, 2022)2374999
9-21166143-T-G not specified Uncertain significance (Sep 03, 2024)2349829
9-21166149-G-T not specified Uncertain significance (Sep 26, 2023)3108251
9-21166169-T-G not specified Uncertain significance (Sep 07, 2022)2311021
9-21166203-A-T not specified Likely benign (Jan 05, 2022)2270214
9-21166216-G-A not specified Uncertain significance (Jun 30, 2022)2299605
9-21166219-T-A not specified Uncertain significance (Oct 26, 2022)2319974
9-21166237-C-A Multisystem inflammatory syndrome in children risk factor (Nov 14, 2021)1321325
9-21166290-A-G not specified Uncertain significance (Aug 04, 2021)2241272
9-21166307-C-G not specified Uncertain significance (Dec 17, 2024)3859540
9-21166320-G-A not specified Uncertain significance (Jan 19, 2025)3859541
9-21166380-G-T not specified Uncertain significance (Jan 16, 2025)3859542
9-21166393-C-T not specified Uncertain significance (Dec 02, 2022)3108249
9-21166416-A-G not specified Uncertain significance (Mar 02, 2023)2493404
9-21166444-G-C not specified Uncertain significance (Dec 06, 2022)2205858
9-21166445-T-A not specified Uncertain significance (Feb 28, 2023)2491040
9-21166467-G-A not specified Uncertain significance (Feb 25, 2025)3859543
9-21166467-G-T not specified Uncertain significance (Dec 27, 2022)3108248
9-21166503-G-A not specified Uncertain significance (Aug 20, 2024)3527763
9-21166549-G-T not specified Uncertain significance (Feb 01, 2023)2480371
9-21166551-G-T not specified Uncertain significance (Oct 08, 2024)3527764

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
IFNA21protein_codingprotein_codingENST00000380225 11024
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-2.1414689.21.640.000004141239
Missense in Polyphen2819.1441.4626313
Synonymous-2.285537.31.480.00000183368
Loss of Function

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
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. {ECO:0000269|PubMed:1634550}.;
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)

Recessive Scores

pRec
0.0817

Intolerance Scores

loftool
0.877
rvis_EVS
1.17
rvis_percentile_EVS
92.7

Haploinsufficiency Scores

pHI
0.0461
hipred
N
hipred_score
0.112
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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