IFNK

interferon kappa, the group of Interferons

Basic information

Region (hg38): 9:27524289-27526498

Links

ENSG00000147896 ∙ NCBI:56832 ∙ OMIM:615326 ∙ HGNC:21714 ∙ Uniprot:Q9P0W0 ∙ 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 IFNK gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFNK 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			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in IFNK

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

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

Position	Type	Phenotype	Significance	ClinVar
9-27524356-T-C		not specified	Uncertain significance (Aug 20, 2023)
9-27524438-C-G		not specified	Uncertain significance (Sep 29, 2022)
9-27524470-T-C		not specified	Uncertain significance (Feb 10, 2022)
9-27524499-T-C		not specified	Uncertain significance (Dec 13, 2022)
9-27524515-T-C		not specified	Uncertain significance (Jun 09, 2022)
9-27524683-T-C		not specified	Uncertain significance (Nov 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IFNK	protein_coding	protein_coding	ENST00000276943	1	2185

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.06e-10	0.0239	118814	148	6783	125745	0.0279

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.341	112	102	1.09	0.00000461	1397
Missense in Polyphen		36	23.976	1.5015		363
Synonymous	-0.194	39	37.5	1.04	0.00000174	348
Loss of Function	-1.01	12	8.77	1.37	5.57e-7	100

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0555	0.0553
Ashkenazi Jewish	0.00916	0.00907
East Asian	0.00136	0.00136
Finnish	0.0388	0.0385
European (Non-Finnish)	0.0308	0.0305
Middle Eastern	0.00136	0.00136
South Asian	0.0445	0.0437
Other	0.0280	0.0277

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in the regulation of immune cell function. Cytokine that imparts cellular protection against viral infection in a species-specific manner. Activates the interferon- stimulated response element signaling pathway. It is able to directly modulate cytokine release from monocytes and dendritic cells. Binds heparin. {ECO:0000269|PubMed:11514542, ECO:0000269|PubMed:12391192}.
• Pathway: Jak-STAT signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);RIG-I-like receptor signaling pathway - Homo sapiens (human);JAK-STAT-Core;RIG-I-like Receptor Signaling (Consensus)

Recessive Scores

• pRec: 0.183

Intolerance Scores

• loftool: 0.862
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.28

Haploinsufficiency Scores

• pHI: 0.167
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.694

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ifnk
• Phenotype: adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue 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;regulation of transcription, DNA-templated;humoral immune response;negative regulation of cell population proliferation;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;B cell proliferation;response to exogenous dsRNA;positive regulation of innate immune response;defense response to virus
• Cellular component: extracellular region;extracellular space
• Molecular function: cytokine activity;type I interferon receptor binding