IFNK
Basic information
Region (hg38): 9:27524290-27526498
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
| 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) | ||
| 9-27524592-G-C | not specified | Uncertain significance (Mar 28, 2024) | ||
| 9-27524617-C-A | not specified | Uncertain significance (Jun 20, 2024) | ||
| 9-27524683-T-C | not specified | Uncertain significance (Nov 16, 2021) |
GnomAD
Source:
| 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:
- 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
- ghis
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