EIF1B

protein-coding

eukaryotic translation initiation factor 1B

Gene summary

Enables RNA binding activity. Predicted to be involved in regulation of translational initiation. Predicted to be part of eukaryotic 43S preinitiation complex. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_005875.3

Inheritance

—

ClinVar variants

U:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.16

Max pathogenic AF

—

Genomic locus

chr3:40,309,707-40,312,424

External References & Databases

Ensembl (ENSG00000114784)

Transcript & Mutation Effects

hg38 • Region Span ~2.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to EIF1B variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_005875.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			7 clinvar			7
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	7	0	0	7

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_005875.3	RefSeq	NP_005866.1	4	MANE Select
ENST00000232905.4	Ensembl	ENSP00000232905.3	4	MANE Select
ENST00000977681.1	Ensembl	ENSP00000647498.1	4	Standard
ENST00001045164.1	Ensembl	ENSP00000714981.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

RNA transport - Homo sapiens (human)

Biological Process

translational initiation
regulation of translational initiation

Molecular Function

RNA binding
translation initiation factor activity
ribosomal small subunit binding

Cellular Component

cellular_component
eukaryotic 43S preinitiation complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000232905
Coding exons: 4
Length: 2741
Individuals with no LoFs: 125410
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 125411
p: 0.00000399

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.90	18	59.0	0.305	0.00000265	748
Missense (PolyPhen)		2	16.555	0.12081		226
Synonymous	0.411	19	21.4	0.887	0.00000110	204
Loss of Function	1.91	1	6.08	0.164	2.57e-7	75

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probably involved in translation.;

Recessive Scores

pRec: 0.118

Intolerance Scores

LoFtool: 0.374
RVIS EVS: 0.06
RVIS percentile EVS: 58

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.965

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low