EIF4E1B

eukaryotic translation initiation factor 4E family member 1B

Basic information

Region (hg38): 5:176630617-176646644

Links

ENSG00000175766 ∙ NCBI:253314 ∙ ∙ HGNC:33179 ∙ Uniprot:A6NMX2 ∙ 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 EIF4E1B gene.

• Inborn genetic diseases (16 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EIF4E1B 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			14	2		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	2	0

Variants in EIF4E1B

This is a list of pathogenic ClinVar variants found in the EIF4E1B region.

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

Position	Type	Phenotype	Significance	ClinVar
5-176643121-G-A		not specified	Likely benign (Apr 22, 2022)
5-176643218-C-T		not specified	Likely benign (Jun 29, 2023)
5-176643639-G-C		not specified	Uncertain significance (Mar 01, 2023)
5-176643639-G-T		not specified	Uncertain significance (Feb 03, 2022)
5-176645226-C-T		not specified	Uncertain significance (Aug 16, 2021)
5-176645242-C-T		not specified	Uncertain significance (Oct 18, 2021)
5-176645384-G-A		not specified	Uncertain significance (Sep 28, 2022)
5-176645392-G-C		not specified	Uncertain significance (Feb 10, 2022)
5-176645411-A-C		not specified	Uncertain significance (Sep 17, 2021)
5-176645416-A-G		not specified	Uncertain significance (Oct 04, 2022)
5-176645486-C-T		not specified	Uncertain significance (Dec 02, 2021)
5-176645867-C-G		not specified	Uncertain significance (Nov 17, 2022)
5-176645888-G-A		not specified	Uncertain significance (Aug 04, 2023)
5-176645897-C-T		not specified	Uncertain significance (May 11, 2022)
5-176645928-C-T		not specified	Uncertain significance (Jun 24, 2022)
5-176645970-T-C		not specified	Uncertain significance (Aug 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EIF4E1B	protein_coding	protein_coding	ENST00000318682	7	15960

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.39e-7	0.464	124225	0	20	124245	0.0000805

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.619	115	135	0.850	0.00000810	1546
Missense in Polyphen		40	54.11	0.73923		671
Synonymous	0.392	47	50.5	0.930	0.00000273	455
Loss of Function	0.736	11	14.0	0.787	7.46e-7	152

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000224	0.000216
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000105	0.0000977
Middle Eastern	0.00	0.00
South Asian	0.000101	0.0000982
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis and facilitates ribosome binding by inducing the unwinding of the mRNAs secondary structure. {ECO:0000250}.
• Pathway: PI3K-Akt signaling pathway - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);RNA transport - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway (Consensus)

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.776
• rvis_EVS: 0.57
• rvis_percentile_EVS: 81.99

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.396
• ghis: 0.447

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.110

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eif4e1b

Gene ontology

• Biological process: translational initiation;regulation of translation
• Cellular component: cytoplasm;mRNA cap binding complex;eukaryotic translation initiation factor 4F complex
• Molecular function: RNA 7-methylguanosine cap binding;translation initiation factor activity