EIF4G3
Basic information
Region (hg38): 1:20806292-21177285
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 EIF4G3 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 | 2 | |||||
missense | 95 | 100 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 1 | |||||
Total | 0 | 0 | 95 | 7 | 1 |
Variants in EIF4G3
This is a list of pathogenic ClinVar variants found in the EIF4G3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-20807326-T-C | not specified | Uncertain significance (Oct 05, 2023) | ||
1-20807343-T-C | Likely benign (Apr 01, 2023) | |||
1-20807390-C-T | not specified | Uncertain significance (Dec 06, 2022) | ||
1-20807491-C-T | not specified | Uncertain significance (Jan 26, 2022) | ||
1-20810810-A-C | not specified | Uncertain significance (Dec 06, 2021) | ||
1-20810855-C-T | not specified | Uncertain significance (Nov 12, 2021) | ||
1-20810884-G-C | not specified | Uncertain significance (Nov 29, 2023) | ||
1-20813209-G-A | not specified | Uncertain significance (Mar 20, 2024) | ||
1-20813227-C-T | not specified | Uncertain significance (Nov 14, 2024) | ||
1-20817449-G-A | Likely benign (Jun 01, 2024) | |||
1-20817457-T-C | not specified | Uncertain significance (Jun 21, 2023) | ||
1-20817484-T-C | not specified | Uncertain significance (Nov 15, 2021) | ||
1-20817510-G-A | not specified | Uncertain significance (Feb 28, 2024) | ||
1-20817510-G-C | not specified | Uncertain significance (Sep 04, 2024) | ||
1-20817517-C-G | not specified | Uncertain significance (Jul 16, 2021) | ||
1-20817519-G-C | not specified | Uncertain significance (Dec 02, 2024) | ||
1-20817520-A-C | not specified | Uncertain significance (Oct 06, 2021) | ||
1-20817524-T-C | not specified | Uncertain significance (Apr 18, 2023) | ||
1-20827652-G-T | not specified | Uncertain significance (Feb 06, 2023) | ||
1-20829180-T-C | not specified | Uncertain significance (Nov 27, 2023) | ||
1-20829186-A-G | Benign (Sep 29, 2017) | |||
1-20840941-T-G | not specified | Uncertain significance (Aug 21, 2023) | ||
1-20849431-T-G | not specified | Uncertain significance (Dec 09, 2023) | ||
1-20849462-T-C | not specified | Uncertain significance (Jul 14, 2021) | ||
1-20849475-C-A | not specified | Uncertain significance (Jul 20, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
EIF4G3 | protein_coding | protein_coding | ENST00000602326 | 31 | 370415 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.00 | 7.90e-11 | 125730 | 0 | 16 | 125746 | 0.0000636 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.97 | 605 | 848 | 0.713 | 0.0000438 | 10409 |
Missense in Polyphen | 211 | 388.8 | 0.54269 | 4759 | ||
Synonymous | 0.0494 | 302 | 303 | 0.996 | 0.0000159 | 3089 |
Loss of Function | 7.95 | 4 | 81.4 | 0.0491 | 0.00000446 | 957 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000801 | 0.000800 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000267 | 0.0000264 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Probable component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome. Thought to be a functional homolog of EIF4G1. {ECO:0000269|PubMed:9418880}.;
- Pathway
- Viral myocarditis - Homo sapiens (human);RNA transport - Homo sapiens (human);Translation Factors;internal ribosome entry pathway;Cytokine Signaling in Immune system;Immune System;insulin Mam;eukaryotic protein translation;ISG15 antiviral mechanism;Antiviral mechanism by IFN-stimulated genes;Interferon Signaling;insulin
(Consensus)
Intolerance Scores
- loftool
- 0.282
- rvis_EVS
- 0.3
- rvis_percentile_EVS
- 71.7
Haploinsufficiency Scores
- pHI
- 0.665
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.484
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.794
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Eif4g3
- Phenotype
- cellular phenotype; reproductive system phenotype; endocrine/exocrine gland phenotype;
Gene ontology
- Biological process
- translational initiation;regulation of translational initiation;negative regulation of autophagy
- Cellular component
- cytosol;eukaryotic translation initiation factor 4F complex
- Molecular function
- RNA cap binding;RNA binding;mRNA binding;translation initiation factor activity;translation factor activity, RNA binding