EIF4B

eukaryotic translation initiation factor 4B, the group of RNA binding motif containing

Basic information

Region (hg38): 12:53006281-53042215

Links

ENSG00000063046 ∙ NCBI:1975 ∙ OMIM:603928 ∙ HGNC:3285 ∙ Uniprot:P23588 ∙ 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 EIF4B gene.

• Inborn genetic diseases (17 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EIF4B 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			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	0

Variants in EIF4B

This is a list of pathogenic ClinVar variants found in the EIF4B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-53016553-A-G		not specified	Uncertain significance (Jul 14, 2022)
12-53018801-C-T		not specified	Uncertain significance (Oct 12, 2021)
12-53018848-A-G		not specified	Uncertain significance (Nov 10, 2022)
12-53018902-G-A		not specified	Uncertain significance (Jan 02, 2024)
12-53018912-G-A		not specified	Uncertain significance (Apr 13, 2022)
12-53018980-A-G		not specified	Uncertain significance (May 05, 2023)
12-53019941-G-C		not specified	Uncertain significance (Feb 10, 2022)
12-53022564-C-T		not specified	Uncertain significance (Oct 30, 2023)
12-53022597-C-A		not specified	Uncertain significance (Feb 21, 2024)
12-53027788-G-A		not specified	Uncertain significance (Jun 29, 2022)
12-53027854-G-A		not specified	Uncertain significance (Oct 30, 2023)
12-53028177-G-A		not specified	Uncertain significance (Jun 18, 2021)
12-53033904-A-G		not specified	Uncertain significance (May 26, 2022)
12-53033917-C-T		not specified	Uncertain significance (Dec 03, 2021)
12-53034647-G-A		not specified	Uncertain significance (Jun 09, 2022)
12-53034656-C-G		not specified	Uncertain significance (Jan 31, 2024)
12-53034661-A-G		not specified	Uncertain significance (Sep 26, 2023)
12-53037487-C-T		not specified	Uncertain significance (Aug 04, 2023)
12-53038360-G-T		not specified	Uncertain significance (Feb 08, 2023)
12-53038367-A-G		not specified	Uncertain significance (May 17, 2023)
12-53039282-G-A		not specified	Uncertain significance (Mar 29, 2022)
12-53039310-G-A		not specified	Uncertain significance (Apr 25, 2023)
12-53039644-A-G		not specified	Uncertain significance (Jul 27, 2021)
12-53040160-C-G		not specified	Uncertain significance (Sep 16, 2021)
12-53040179-G-C		not specified	Uncertain significance (May 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EIF4B	protein_coding	protein_coding	ENST00000262056	15	36052

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000516	124786	0	4	124790	0.0000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.15	261	379	0.689	0.0000240	3978
Missense in Polyphen		47	71.482	0.65751		876
Synonymous	-0.522	133	126	1.06	0.00000646	1205
Loss of Function	5.60	1	38.5	0.0260	0.00000257	392

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000646	0.0000646
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000179	0.0000177
Middle Eastern	0.00	0.00
South Asian	0.0000330	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for the binding of mRNA to ribosomes. Functions in close association with EIF4-F and EIF4-A. Binds near the 5'- terminal cap of mRNA in presence of EIF-4F and ATP. Promotes the ATPase activity and the ATP-dependent RNA unwinding activity of both EIF4-A and EIF4-F.
• Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);RNA transport - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Translation Factors;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;Interferon type I signaling pathways;Signal Transduction;mtor signaling pathway;Translation initiation complex formation;Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S;Eukaryotic Translation Initiation;Translation;Metabolism of proteins;mTORC1-mediated signalling;mTOR signalling;Metabolism of RNA;Ribosomal scanning and start codon recognition;L13a-mediated translational silencing of Ceruloplasmin expression;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation;Deadenylation of mRNA;Deadenylation-dependent mRNA decay;mTOR signaling pathway (Consensus)

Recessive Scores

• pRec: 0.280

Intolerance Scores

• loftool: 0.0987
• rvis_EVS: -0.54
• rvis_percentile_EVS: 20.54

Haploinsufficiency Scores

• pHI: 0.669
• hipred: Y
• hipred_score: 0.783
• ghis: 0.600

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.991

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Eif4b

Gene ontology

• Biological process: formation of translation preinitiation complex;cytoplasmic translation;translational initiation;regulation of translational initiation;eukaryotic translation initiation factor 4F complex assembly
• Cellular component: cytosol;polysome;eukaryotic translation initiation factor 4F complex
• Molecular function: RNA binding;translation initiation factor activity;protein binding;RNA strand annealing activity;RNA strand-exchange activity;ribosomal small subunit binding