EIF1AX

eukaryotic translation initiation factor 1A X-linked, the group of Small nucleolar RNA protein coding host genes

Basic information

Region (hg38): X:20124524-20141838

Previous symbols: [ "EIF4C", "EIF1A" ]

Links

ENSG00000173674 ∙ NCBI:1964 ∙ OMIM:300186 ∙ HGNC:3250 ∙ Uniprot:P47813 ∙ 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 EIF1AX gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EIF1AX 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					1	1
missense			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	2	0	1

Variants in EIF1AX

This is a list of pathogenic ClinVar variants found in the EIF1AX region.

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

Position	Type	Phenotype	Significance	ClinVar
X-20130537-A-G			Benign (May 30, 2018)
X-20132224-C-T		Multiple myeloma	Likely pathogenic (Aug 31, 2019)
X-20132254-C-T		not specified	Uncertain significance (Jan 10, 2022)
X-20135846-C-T			Benign (Jun 10, 2018)
X-20138622-C-A		See cases	Uncertain significance (Dec 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EIF1AX	protein_coding	protein_coding	ENST00000379607	7	17327

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.910	0.0892	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.39	4	53.0	0.0755	0.00000400	965
Missense in Polyphen		0	12.392	0		260
Synonymous	0.479	16	18.6	0.859	0.00000156	232
Loss of Function	2.58	0	7.76	0.00	6.29e-7	134

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	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Seems to be required for maximal rate of protein biosynthesis. Enhances ribosome dissociation into subunits and stabilizes the binding of the initiator Met-tRNA(I) to 40 S ribosomal subunits.
• Pathway: RNA transport - Homo sapiens (human);Translation Factors;Formation of the ternary complex, and subsequently, the 43S complex;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;Formation of a pool of free 40S subunits;eukaryotic protein translation;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 (Consensus)

Recessive Scores

• pRec: 0.136

Intolerance Scores

• rvis_EVS: 0.06
• rvis_percentile_EVS: 58

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.785
• ghis: 0.595

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Mouse Genome Informatics

• Gene name: Eif1ax

Zebrafish Information Network

• Gene name: eif1axb
• Affected structure: nucleate erythrocyte
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

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