IFI27
interferon alpha inducible protein 27
Basic information
Region (hg38): 14:94104836-94116695
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (5 variants)
- not provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFI27 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 | 1 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 4 | 1 | 1 |
Variants in IFI27
This is a list of pathogenic ClinVar variants found in the IFI27 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 14-94111740-G-T | not specified | Uncertain significance (Dec 18, 2023) | ||
| 14-94115784-T-TGGCCATGGC | Benign (Dec 31, 2019) | |||
| 14-94115843-G-A | not specified | Likely benign (Jun 21, 2022) | ||
| 14-94115870-A-C | not specified | Uncertain significance (Jun 10, 2024) | ||
| 14-94115895-G-C | not specified | Uncertain significance (Aug 22, 2023) | ||
| 14-94115919-T-C | not specified | Uncertain significance (Jul 21, 2021) | ||
| 14-94116473-C-G | not specified | Uncertain significance (Feb 17, 2022) | ||
| 14-94116487-T-G | not specified | Uncertain significance (May 06, 2024) | ||
| 14-94116488-T-G | not specified | Uncertain significance (Jan 26, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| IFI27 | protein_coding | protein_coding | ENST00000555744 | 4 | 11852 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0107 | 0.635 | 114914 | 0 | 1 | 114915 | 0.00000435 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.414 | 60 | 69.7 | 0.861 | 0.00000390 | 708 |
| Missense in Polyphen | 7 | 10.173 | 0.68812 | 98 | ||
| Synonymous | 0.00613 | 32 | 32.0 | 0.999 | 0.00000229 | 280 |
| Loss of Function | 0.405 | 3 | 3.86 | 0.778 | 1.63e-7 | 48 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000970 | 0.00000970 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Probable adapter protein involved in different biological processes (PubMed:22427340, PubMed:27194766). Part of the signaling pathways that lead to apoptosis (PubMed:18330707, PubMed:27673746, PubMed:24970806). Involved in type-I interferon- induced apoptosis characterized by a rapid and robust release of cytochrome C from the mitochondria and activation of BAX and caspases 2, 3, 6, 8 and 9 (PubMed:18330707, PubMed:27673746). Also functions in TNFSF10-induced apoptosis (PubMed:24970806). May also have a function in the nucleus, where it may be involved in the interferon-induced negative regulation of the transcriptional activity of NR4A1, NR4A2 and NR4A3 through the enhancement of XPO1-mediated nuclear export of these nuclear receptors (PubMed:22427340). May thereby play a role in the vascular response to injury (By similarity). In the innate immune response, has an antiviral activity towards hepatitis C virus/HCV (PubMed:27194766, PubMed:27777077). May prevent the replication of the virus by recruiting both the hepatitis C virus non-structural protein 5A/NS5A and the ubiquitination machinery via SKP2, promoting the ubiquitin-mediated proteasomal degradation of NS5A (PubMed:27194766, PubMed:27777077). {ECO:0000250|UniProtKB:Q8R412, ECO:0000269|PubMed:18330707, ECO:0000269|PubMed:22427340, ECO:0000269|PubMed:24970806, ECO:0000269|PubMed:27194766, ECO:0000269|PubMed:27673746, ECO:0000269|PubMed:27777077}.;
- Pathway
- Cytokine Signaling in Immune system;Immune System;Interferon alpha/beta signaling;Interferon Signaling
(Consensus)
Recessive Scores
- pRec
- 0.0647
Intolerance Scores
- loftool
- 0.621
- rvis_EVS
- 0.37
- rvis_percentile_EVS
- 74.95
Haploinsufficiency Scores
- pHI
- 0.0392
- hipred
- N
- hipred_score
- 0.112
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.146
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ifi27l2b
- Phenotype
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;apoptotic process;viral process;proteasome-mediated ubiquitin-dependent protein catabolic process;modulation by host of viral genome replication;innate immune response;regulation of protein export from nucleus;defense response to virus;type I interferon signaling pathway;protein K48-linked ubiquitination;extrinsic apoptotic signaling pathway
- Cellular component
- nuclear envelope;nuclear inner membrane;mitochondrion;mitochondrial outer membrane;endoplasmic reticulum membrane;integral component of membrane;mitochondrial membrane
- Molecular function
- RNA polymerase II activating transcription factor binding;molecular_function;protein binding;lamin binding;identical protein binding