EFL1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- EFL1 (HGNC:25789) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- elongation factor like GTPase 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- EFTUD1
- Alias symbols
- FLJ13119, FAM42A, HsT19294, RIA1
- %HI
- 67.96(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.56(Read more about gnomAD LOEUF score)
- Cytoband
- 15q25.2
- Genomic Coordinates
-
GRCh37/hg19: chr15:82422574-82555075 NCBI Ensembl UCSC GRCh38/hg38: chr15:82130233-82262734 NCBI Ensembl UCSC - MANE Select Transcript
- NM_024580.6 ENST00000268206.12 (Read more about MANE Select)
- Function
- Involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with SBDS, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Has low intrinsic GTPase activity. GTPase activity is increased by contact with 60S ribosome s... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-31054
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
04/13/2022
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Shwachman-Diamond syndrome Monarch
HI Evidence Comments:
Individuals with biallelic variants in EFL1 have been found to have Shwachman-Diamond syndrome.
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)