EIF4A3 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- EIF4A3 (HGNC:18683) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- eukaryotic translation initiation factor 4A3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DDX48
- Alias symbols
- KIAA0111, EIF4AIII, Fal1
- %HI
- 31.52(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.08(Read more about gnomAD LOEUF score)
- Cytoband
- 17q25.3
- Genomic Coordinates
-
GRCh37/hg19: chr17:78108168-78120927 NCBI Ensembl UCSC GRCh38/hg38: chr17:80134369-80147128 NCBI Ensembl UCSC - MANE Select Transcript
- NM_014740.4 ENST00000649764.2 (Read more about MANE Select)
- Function
- ATP-dependent RNA helicase (PubMed:16170325). Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:22961380, PubMed:28502770, PubMed:28076346, PubMed:29301961). Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs (PubMed:16209946, PubMed:16170325, PubMed:16314458, PubMed:16923391, PubMed:16931718, PubMed:19033377, PubMed:20479275). The EJC is a dynamic structure consisting of core proteins and ... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-14242
ClinGen Curation ID:
CCID:007062
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Richieri Costa-Pereira syndrome Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)