EIF4G1
Basic information
Region (hg38): 3:184314495-184335358
Previous symbols: [ "EIF4G", "EIF4F" ]
Links
Phenotypes
GenCC
Source:
- Parkinson disease 18, autosomal dominant, susceptibility to (Moderate), mode of inheritance: AD
- Parkinson disease 18, autosomal dominant, susceptibility to (Disputed Evidence), mode of inheritance: Unknown
- Parkinson disease 18, autosomal dominant, susceptibility to (Limited), mode of inheritance: Unknown
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Parkinson disease 18 | AD | Neurologic | Response to levodopa has been described, though the evidence for causation is mixed | Neurologic | 21907011; 23408866; 25227500; 25368108 |
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 EIF4G1 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 | 13 | 16 | ||||
missense | 70 | 78 | ||||
nonsense | 0 | |||||
start loss | 1 | |||||
frameshift | 0 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 2 | 3 | |||
non coding | 21 | 21 | ||||
Total | 0 | 0 | 71 | 18 | 28 |
Variants in EIF4G1
This is a list of pathogenic ClinVar variants found in the EIF4G1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
3-184315558-T-A | Benign (Jun 20, 2021) | |||
3-184315620-A-T | Benign (Jun 18, 2021) | |||
3-184315838-A-C | EIF4G1-related disorder | Likely benign (Oct 31, 2019) | ||
3-184316135-G-C | not specified | Uncertain significance (Dec 27, 2023) | ||
3-184316175-C-A | not specified | Uncertain significance (Oct 06, 2023) | ||
3-184316552-GT-G | Benign (Jun 21, 2021) | |||
3-184317341-C-T | Likely benign (Jul 15, 2018) | |||
3-184317345-C-T | not specified | Uncertain significance (Sep 27, 2021) | ||
3-184317349-C-T | EIF4G1-related disorder | Uncertain significance (Dec 19, 2023) | ||
3-184317427-C-T | not specified | Uncertain significance (Feb 10, 2023) | ||
3-184317492-G-C | not specified | Uncertain significance (Dec 07, 2021) | ||
3-184317604-T-A | Benign (Jun 20, 2021) | |||
3-184317660-G-A | Benign (Jun 21, 2021) | |||
3-184317739-C-G | not specified | Uncertain significance (Jul 20, 2021) | ||
3-184319426-GGT-G | Benign (Jun 19, 2021) | |||
3-184319447-GTGTGTGTGTGTGTGTGTGTT-G | Benign (Jun 19, 2021) | |||
3-184319449-GTGTGTGTGTGTGTGTGTT-G | Benign (Jun 19, 2021) | |||
3-184319451-GTGTGTGTGTGTGTGTT-G | Benign (Jun 19, 2021) | |||
3-184319739-G-T | EIF4G1-related disorder | Uncertain significance (Jan 17, 2023) | ||
3-184319745-A-G | not specified | Benign (-) | ||
3-184319759-G-T | not specified | Uncertain significance (Jun 16, 2023) | ||
3-184319800-C-T | Parkinson disease 18, autosomal dominant, susceptibility to | Uncertain significance (Jan 07, 2022) | ||
3-184319928-T-G | Benign (Jun 21, 2021) | |||
3-184320972-G-A | not specified | Uncertain significance (Aug 08, 2022) | ||
3-184320988-G-C | EIF4G1-related disorder | Uncertain significance (Aug 23, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
EIF4G1 | protein_coding | protein_coding | ENST00000424196 | 32 | 20864 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.00 | 8.43e-13 | 125733 | 0 | 15 | 125748 | 0.0000596 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.22 | 727 | 916 | 0.793 | 0.0000619 | 10353 |
Missense in Polyphen | 204 | 347.35 | 0.5873 | 3914 | ||
Synonymous | -2.54 | 413 | 352 | 1.17 | 0.0000221 | 3337 |
Loss of Function | 8.33 | 2 | 84.7 | 0.0236 | 0.00000577 | 931 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000293 | 0.0000293 |
Ashkenazi Jewish | 0.000597 | 0.000595 |
East Asian | 0.00 | 0.00 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.0000624 | 0.0000615 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: 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.;
- Disease
- DISEASE: Parkinson disease 18 (PARK18) [MIM:614251]: An autosomal dominant, late-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. {ECO:0000269|PubMed:21907011}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Viral myocarditis - Homo sapiens (human);RNA transport - Homo sapiens (human);Translation Factors;Signal Transduction;mtor signaling pathway;regulation of eif-4e and p70s6 kinase;skeletal muscle hypertrophy is regulated via akt-mtor pathway;internal ribosome entry pathway;Translation initiation complex formation;Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S;Cytokine Signaling in Immune system;Eukaryotic Translation Initiation;Translation;Metabolism of proteins;mTORC1-mediated signalling;AUF1 (hnRNP D0) binds and destabilizes mRNA;mTOR signalling;Metabolism of RNA;Immune System;insulin Mam;Nonsense-Mediated Decay (NMD);EGFR1;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);eukaryotic protein translation;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);Ribosomal scanning and start codon recognition;L13a-mediated translational silencing of Ceruloplasmin expression;Regulation of mRNA stability by proteins that bind AU-rich elements;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation;Deadenylation of mRNA;Deadenylation-dependent mRNA decay;Validated targets of C-MYC transcriptional activation;ISG15 antiviral mechanism;Antiviral mechanism by IFN-stimulated genes;Interferon Signaling;insulin
(Consensus)
Recessive Scores
- pRec
- 0.171
Intolerance Scores
- loftool
- 0.135
- rvis_EVS
- -1.27
- rvis_percentile_EVS
- 5.21
Haploinsufficiency Scores
- pHI
- 0.880
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.601
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.864
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Eif4g1
- Phenotype
- normal phenotype;
Gene ontology
- Biological process
- nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;behavioral fear response;cap-dependent translational initiation;translation;translational initiation;regulation of translational initiation;mitochondrion organization;positive regulation of cell population proliferation;negative regulation of autophagy;negative regulation of peptidyl-threonine phosphorylation;positive regulation of cell death;viral process;positive regulation of cell growth;cellular response to nutrient levels;positive regulation of cellular protein metabolic process;developmental process;positive regulation of peptidyl-serine phosphorylation;cellular macromolecule biosynthetic process;regulation of mRNA stability;positive regulation of neuron differentiation;regulation of gene silencing by miRNA;regulation of cellular response to stress;energy homeostasis;positive regulation of G1/S transition of mitotic cell cycle;negative regulation of neuron death;positive regulation of eukaryotic translation initiation factor 4F complex assembly;regulation of presynapse assembly;positive regulation of mRNA cap binding;positive regulation of miRNA mediated inhibition of translation;regulation of polysome binding
- Cellular component
- nucleus;cytoplasm;cytosol;polysome;membrane;eukaryotic translation initiation factor 4F complex;cytosolic small ribosomal subunit
- Molecular function
- RNA binding;mRNA binding;translation initiation factor activity;protein binding;ATP binding;translation factor activity, RNA binding;eukaryotic initiation factor 4E binding;translation initiation factor binding;protein-containing complex scaffold activity;identical protein binding