ENO3 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ENO3 (HGNC:3354) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- enolase 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 4.38(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.18(Read more about gnomAD LOEUF score)
- Cytoband
- 17p13.2
- Genomic Coordinates
-
GRCh37/hg19: chr17:4853847-4860424 NCBI Ensembl UCSC GRCh38/hg38: chr17:4948710-4957129 NCBI Ensembl UCSC - MANE Select Transcript
- NM_053013.4 ENST00000519602.6 (Read more about MANE Select)
- Function
- Glycolytic enzyme that catalyzes the conversion of 2- phosphoglycerate to phosphoenolpyruvate. Appears to have a function in striated muscle development and regeneration. {ECO:0000250|UniProtKB:P15429}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-18829
ClinGen Curation ID:
CCID:007071
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- glycogen storage disease due to muscle beta-enolase deficiency Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)