IFI6
Basic information
Region (hg38): 1:27666064-27672212
Previous symbols: [ "G1P3" ]
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 IFI6 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 | 5 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 5 | 0 | 0 |
Variants in IFI6
This is a list of pathogenic ClinVar variants found in the IFI6 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-27666399-A-C | not specified | Uncertain significance (Sep 20, 2023) | ||
| 1-27666442-A-G | not specified | Uncertain significance (Mar 24, 2023) | ||
| 1-27666451-A-G | not specified | Uncertain significance (Apr 28, 2022) | ||
| 1-27666473-C-T | not specified | Uncertain significance (Oct 16, 2023) | ||
| 1-27668351-G-A | not specified | Uncertain significance (Dec 20, 2023) | ||
| 1-27669302-C-T | not specified | Uncertain significance (Mar 16, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| IFI6 | protein_coding | protein_coding | ENST00000339145 | 4 | 6158 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0137 | 0.687 | 119541 | 0 | 1 | 119542 | 0.00000418 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.32 | 49 | 82.7 | 0.592 | 0.00000517 | 847 |
| Missense in Polyphen | 17 | 30.012 | 0.56644 | 315 | ||
| Synonymous | 0.465 | 39 | 42.9 | 0.910 | 0.00000335 | 279 |
| Loss of Function | 0.587 | 3 | 4.32 | 0.695 | 1.82e-7 | 56 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000293 | 0.0000293 |
| 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:
- Function
- FUNCTION: Plays a role in apoptosis, negatively regulating the intrinsinc apoptotic signaling pathway and TNFSF10-induced apoptosis (PubMed:15685448, PubMed:17823654, PubMed:26244642). However, it has also been shown to have a pro-apoptotic activity (PubMed:27673746). Has an antiviral activity towards hepatitis C virus/HCV by inhibiting the EGFR signaling pathway, which activation is required for entry of the virus into cells (PubMed:25757571). {ECO:0000269|PubMed:15685448, ECO:0000269|PubMed:17823654, ECO:0000269|PubMed:25757571, ECO:0000269|PubMed:26244642, ECO:0000269|PubMed:27673746}.;
- Pathway
- Type II interferon signaling (IFNG);Cytokine Signaling in Immune system;Immune System;Interferon alpha/beta signaling;Interferon Signaling
(Consensus)
Recessive Scores
- pRec
- 0.160
Haploinsufficiency Scores
- pHI
- 0.165
- hipred
- N
- hipred_score
- 0.180
- ghis
- 0.486
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.829
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Low | Low | Low |
| Primary Immunodeficiency | Low | Low | Low |
| Cancer | Low | Low | Low |
Gene ontology
- Biological process
- release of cytochrome c from mitochondria;apoptotic process;immune response;regulation of epidermal growth factor receptor signaling pathway;negative regulation of apoptotic process;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process;innate immune response;defense response to virus;negative regulation of mitochondrial depolarization;type I interferon signaling pathway;reactive oxygen species metabolic process;intrinsic apoptotic signaling pathway;cellular response to virus;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
- Cellular component
- mitochondrion;mitochondrial inner membrane;plasma membrane;integral component of membrane;mitochondrial membrane
- Molecular function
- protein binding