EIF1AD

eukaryotic translation initiation factor 1A domain containing

Basic information

Region (hg38): 11:65996545-66002176

Links

ENSG00000175376 ∙ NCBI:84285 ∙ OMIM:618473 ∙ HGNC:28147 ∙ Uniprot:Q8N9N8 ∙ 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 EIF1AD gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EIF1AD 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			4	1		5
Total	0	0	9	1	0

Variants in EIF1AD

This is a list of pathogenic ClinVar variants found in the EIF1AD region.

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

Position	Type	Phenotype	Significance	ClinVar
11-65998651-C-T		not specified	Uncertain significance (Aug 01, 2024)
11-65998652-G-A		not specified	Uncertain significance (Jan 21, 2025)
11-65998721-C-T		not specified	Uncertain significance (Feb 27, 2025)
11-65999642-C-T		not specified	Uncertain significance (Feb 25, 2025)
11-66000076-C-T		not specified	Uncertain significance (Jun 07, 2023)
11-66000104-A-G		not specified	Uncertain significance (Dec 21, 2024)
11-66000106-C-T		not specified	Uncertain significance (Nov 25, 2024)
11-66000134-G-A		not specified	Uncertain significance (May 30, 2024)
11-66000341-C-T		not specified	Uncertain significance (Jun 30, 2022)
11-66002090-A-G		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 13, 2018)
11-66002101-G-C		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 12, 2018)
11-66002109-G-A		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 13, 2018)
11-66002113-G-GGA		Nestor-Guillermo progeria syndrome	Uncertain significance (Jun 14, 2016)
11-66002122-C-T		Nestor-Guillermo progeria syndrome	Likely benign (Jan 13, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EIF1AD	protein_coding	protein_coding	ENST00000312234	5	5632

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00340	0.846	125739	0	9	125748	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.519	78	92.0	0.848	0.00000482	1094
Missense in Polyphen		21	28.658	0.73278		345
Synonymous	-0.621	38	33.4	1.14	0.00000173	296
Loss of Function	1.20	5	8.85	0.565	3.76e-7	104

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.0000616	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role into cellular response to oxidative stress. Decreases cell proliferation. {ECO:0000269|PubMed:20644585, ECO:0000269|PubMed:22095125}.

Recessive Scores

• pRec: 0.116

Intolerance Scores

• loftool: 0.536
• rvis_EVS: 0.53
• rvis_percentile_EVS: 80.58

Haploinsufficiency Scores

• pHI: 0.167
• hipred: N
• hipred_score: 0.369
• ghis: 0.455

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.942

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eif1ad

Gene ontology

• Biological process: translational initiation
• Cellular component: nucleus
• Molecular function: translation initiation factor activity;protein binding