EIF4E3

eukaryotic translation initiation factor 4E family member 3

Basic information

Region (hg38): 3:71675414-71754773

Links

ENSG00000163412NCBI:317649OMIM:609896HGNC:31837Uniprot:Q8N5X7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EIF4E3 gene.

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
clinvar
10
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
10
clinvar
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)3088004
3-71690115-C-T not specified Uncertain significance (Oct 12, 2021)2225248
3-71690138-C-T not specified Uncertain significance (Jan 17, 2024)3088003
3-71693881-C-T not specified Uncertain significance (Mar 19, 2024)3275038
3-71693926-C-G not specified Uncertain significance (May 13, 2024)3275042
3-71696511-C-G not specified Uncertain significance (Jun 03, 2024)3275040
3-71725216-G-C not specified Uncertain significance (Jun 21, 2022)2348175
3-71725244-G-A not specified Uncertain significance (Dec 15, 2023)3088002
3-71725250-G-C not specified Uncertain significance (Dec 26, 2023)3088001
3-71725294-G-A not specified Uncertain significance (Jun 16, 2023)2603500
3-71725304-C-T not specified Uncertain significance (Apr 08, 2024)3275041
3-71725327-C-A not specified Uncertain significance (May 14, 2024)3275039
3-71725339-G-C not specified Uncertain significance (Jun 01, 2023)2512767
3-71725351-G-A not specified Uncertain significance (Apr 04, 2023)2516048
3-71725355-G-A not specified Uncertain significance (Nov 18, 2022)2327538
3-71754067-G-T not specified Uncertain significance (Sep 09, 2021)2248818
3-71754069-C-T not specified Uncertain significance (Apr 26, 2024)3282366
3-71754185-G-A not specified Uncertain significance (Jun 29, 2022)2383384
3-71754251-G-A not specified Uncertain significance (Aug 21, 2023)2619983
3-71754281-G-A not specified Uncertain significance (Mar 18, 2024)3282364
3-71754299-G-T not specified Uncertain significance (Nov 21, 2022)3101697
3-71754317-C-G not specified Uncertain significance (Jul 25, 2023)2614316
3-71754544-C-G not specified Uncertain significance (Apr 07, 2023)2555393
3-71754579-C-A not specified Uncertain significance (Apr 07, 2023)2517350
3-71754705-T-C not specified Uncertain significance (Nov 09, 2021)2260301

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
EIF4E3protein_codingprotein_codingENST00000425534 779358
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.01810.9631257190261257450.000103
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5107891.80.8500.000004961420
Missense in Polyphen3647.1010.76431604
Synonymous0.03213131.20.9930.00000169450
Loss of Function2.05513.00.3868.14e-7153

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.001640.00149
East Asian0.00005460.0000544
Finnish0.000.00
European (Non-Finnish)0.00007800.0000703
Middle Eastern0.00005460.0000544
South Asian0.00003270.0000327
Other0.0001920.000163

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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