IFNW1
Basic information
Region (hg38): 9:21140632-21141832
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 IFNW1 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 | 11 | 12 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 11 | 1 | 0 |
Variants in IFNW1
This is a list of pathogenic ClinVar variants found in the IFNW1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 9-21141003-T-C | not specified | Likely benign (Feb 15, 2023) | ||
| 9-21141039-A-G | not specified | Uncertain significance (Nov 29, 2023) | ||
| 9-21141086-C-T | not specified | Uncertain significance (May 18, 2022) | ||
| 9-21141092-C-G | not specified | Uncertain significance (Jul 05, 2023) | ||
| 9-21141128-T-C | not specified | Uncertain significance (May 14, 2024) | ||
| 9-21141146-G-T | not specified | Uncertain significance (May 26, 2024) | ||
| 9-21141152-G-A | not specified | Uncertain significance (Dec 31, 2023) | ||
| 9-21141153-C-G | not specified | Uncertain significance (Aug 16, 2021) | ||
| 9-21141161-C-T | not specified | Uncertain significance (Aug 10, 2021) | ||
| 9-21141270-T-C | not specified | Uncertain significance (Feb 28, 2024) | ||
| 9-21141341-A-G | not specified | Uncertain significance (Feb 17, 2022) | ||
| 9-21141377-A-G | not specified | Uncertain significance (Jun 16, 2022) | ||
| 9-21141453-G-C | not specified | Uncertain significance (Nov 07, 2022) | ||
| 9-21141537-C-A | not specified | Uncertain significance (Nov 12, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| IFNW1 | protein_coding | protein_coding | ENST00000380229 | 1 | 1514 |
| 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 | -0.734 | 122 | 101 | 1.21 | 0.00000472 | 1279 |
| Missense in Polyphen | 24 | 22.883 | 1.0488 | 340 | ||
| Synonymous | -1.51 | 52 | 39.8 | 1.31 | 0.00000181 | 387 |
| Loss of Function |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | ||
| East Asian | ||
| Finnish | ||
| European (Non-Finnish) | ||
| Middle Eastern | ||
| South Asian | ||
| Other |
dbNSFP
Source:
- 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 MolecularVariation 1;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;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
(Consensus)
Recessive Scores
- pRec
- 0.0823
Intolerance Scores
- loftool
- 0.676
- rvis_EVS
- -0.14
- rvis_percentile_EVS
- 43.57
Haploinsufficiency Scores
- pHI
- 0.0519
- hipred
- N
- hipred_score
- 0.254
- ghis
- 0.447
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.180
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
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;cell cycle arrest;response to virus;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
- Cellular component
- extracellular space
- Molecular function
- cytokine activity;cytokine receptor binding;type I interferon receptor binding