EIF4E3
Basic information
Region (hg38): 3:71675414-71754773
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 EIF4E3 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 | 10 | 10 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 10 | 10 | ||||
Total | 0 | 0 | 20 | 0 | 0 |
Variants in EIF4E3
This is a list of pathogenic ClinVar variants found in the EIF4E3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
3-71684696-G-A | not specified | Uncertain significance (Sep 20, 2023) | ||
3-71690115-C-T | not specified | Uncertain significance (Oct 12, 2021) | ||
3-71690138-C-T | not specified | Uncertain significance (Jan 17, 2024) | ||
3-71693881-C-T | not specified | Uncertain significance (Mar 19, 2024) | ||
3-71693926-C-G | not specified | Uncertain significance (May 13, 2024) | ||
3-71696511-C-G | not specified | Uncertain significance (Jun 03, 2024) | ||
3-71725216-G-C | not specified | Uncertain significance (Jun 21, 2022) | ||
3-71725244-G-A | not specified | Uncertain significance (Dec 15, 2023) | ||
3-71725250-G-C | not specified | Uncertain significance (Dec 26, 2023) | ||
3-71725294-G-A | not specified | Uncertain significance (Jun 16, 2023) | ||
3-71725304-C-T | not specified | Uncertain significance (Apr 08, 2024) | ||
3-71725327-C-A | not specified | Uncertain significance (May 14, 2024) | ||
3-71725339-G-C | not specified | Uncertain significance (Jun 01, 2023) | ||
3-71725351-G-A | not specified | Uncertain significance (Apr 04, 2023) | ||
3-71725355-G-A | not specified | Uncertain significance (Nov 18, 2022) | ||
3-71754067-G-T | not specified | Uncertain significance (Sep 09, 2021) | ||
3-71754069-C-T | not specified | Uncertain significance (Apr 26, 2024) | ||
3-71754185-G-A | not specified | Uncertain significance (Jun 29, 2022) | ||
3-71754251-G-A | not specified | Uncertain significance (Aug 21, 2023) | ||
3-71754281-G-A | not specified | Uncertain significance (Mar 18, 2024) | ||
3-71754299-G-T | not specified | Uncertain significance (Nov 21, 2022) | ||
3-71754317-C-G | not specified | Uncertain significance (Jul 25, 2023) | ||
3-71754544-C-G | not specified | Uncertain significance (Apr 07, 2023) | ||
3-71754579-C-A | not specified | Uncertain significance (Apr 07, 2023) | ||
3-71754705-T-C | not specified | Uncertain significance (Nov 09, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
EIF4E3 | protein_coding | protein_coding | ENST00000425534 | 7 | 79358 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0181 | 0.963 | 125719 | 0 | 26 | 125745 | 0.000103 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.510 | 78 | 91.8 | 0.850 | 0.00000496 | 1420 |
Missense in Polyphen | 36 | 47.101 | 0.76431 | 604 | ||
Synonymous | 0.0321 | 31 | 31.2 | 0.993 | 0.00000169 | 450 |
Loss of Function | 2.05 | 5 | 13.0 | 0.386 | 8.14e-7 | 153 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00164 | 0.00149 |
East Asian | 0.0000546 | 0.0000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000780 | 0.0000703 |
Middle Eastern | 0.0000546 | 0.0000544 |
South Asian | 0.0000327 | 0.0000327 |
Other | 0.000192 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis. May act as an inhibitor of EIF4E1 activity (By similarity). {ECO:0000250}.;
- Pathway
- Cytokine Signaling in Immune system;Immune System;ISG15 antiviral mechanism;Antiviral mechanism by IFN-stimulated genes;Interferon Signaling
(Consensus)
Recessive Scores
- pRec
- 0.113
Intolerance Scores
- loftool
- 0.784
- rvis_EVS
- -0.1
- rvis_percentile_EVS
- 46.2
Haploinsufficiency Scores
- pHI
- 0.468
- hipred
- Y
- hipred_score
- 0.731
- ghis
- 0.571
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.539
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Eif4e3
- Phenotype
- homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype;
Gene ontology
- Biological process
- translational initiation;regulation of translation
- Cellular component
- cytosol;mRNA cap binding complex;eukaryotic translation initiation factor 4F complex
- Molecular function
- RNA 7-methylguanosine cap binding;translation initiation factor activity