EIF1AY

Chr Y

eukaryotic translation initiation factor 1A Y-linked

Also known as: eIF-4C

NCBI Gene: 9086 ENSG00000198692 UniProt: O14602 OMIM: 400014

The protein is a component of the ribosomal translation initiation machinery that facilitates mRNA scanning, start codon recognition, and assembly of the 80S ribosome complex for protein synthesis. This gene is located on the Y chromosome and follows Y-linked inheritance, passing from father to son. Currently, no specific diseases have been definitively associated with mutations in this gene.

OMIM ResearchSummary from RefSeq, UniProt

This gene is located on the non-recombining region of the Y chromosome. It encodes a protein related to eukaryotic translation initiation factor 1A (EIF1A), which may function in stabilizing the binding of the initiator Met-tRNA to 40S ribosomal subunits. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

OMIM ResearchGenerating clinical summary…

LOEUF 1.18

Clinical Summary— EIF1AY

⚡

Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.55) — some intolerance to loss-of-function variants.

📋

ClinVar Variants

26 total variants — no pathogenic classifications of 26 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

1.18LOEUF

pLI 0.552

Z-score 1.44

OE 0.00 (0.00–1.18)

Moderately constrained

Highly tolerant — LoF variants common in population

Missense Constraint?

1.03Z-score

OE missense 0.30 (0.15–0.62)

5 obs / 16.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.00 (0.00–1.18)

0≤0.351.4

Missense OE?0.30 (0.15–0.62)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 0 / 2.4Missense obs/exp: 5 / 16.9Syn Z: -0.02

ClinVar Variant Classifications

26 submitted variants in ClinVar

ClinVar

Classification Summary

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

Classification	LoF	Missense + Inframe	Non-coding	Synonymous
Pathogenic	—	—	—	—
Likely Pathogenic	—	—	—	—
VUS	—	—	—	—
Likely Benign	—	—	—	—
Benign	—	—	—	—
Total	—

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

71 pathogenic / likely-pathogenic (of 83) ClinVar copy-number / structural variants overlap EIF1AY — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →