EIF4E3

eukaryotic translation initiation factor 4E family member 3

Basic information

Region (hg38): 3:71675413-71754773

Links

ENSG00000163412 ∙ NCBI:317649 ∙ OMIM:609896 ∙ HGNC:31837 ∙ Uniprot:Q8N5X7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

• Inborn genetic diseases (15 variants)

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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			9			9
Total	0	0	15	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)
3-71725216-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)
3-71725339-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)
3-71754185-G-A		not specified	Uncertain significance (Jun 29, 2022)
3-71754251-G-A		not specified	Uncertain significance (Aug 21, 2023)
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)
3-71754740-G-A		not specified	Uncertain significance (Mar 06, 2023)
3-71754767-G-A		not specified	Uncertain significance (Jun 26, 2023)

GnomAD

Source: gnomAD

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: 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

	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