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EDN3 |
Gene Facts External Data Attribution
- HGNC Symbol
- EDN3 (HGNC:3178) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- endothelin 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- ET3
- %HI
- 79.25(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.38(Read more about gnomAD pLI score)
- LOEUF
- 0.7(Read more about gnomAD LOEUF score)
- Cytoband
- 20q13.32
- Genomic Coordinates
-
GRCh37/hg19: chr20:57875666-57901047 NCBI Ensembl UCSC GRCh38/hg38: chr20:59300611-59325992 NCBI Ensembl UCSC - MANE Select Transcript
- NM_207034.3 ENST00000337938.7 (Read more about MANE Select)
- Function
- Endothelins are endothelium-derived vasoconstrictor peptides. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-23811
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000020.10)
(NC_000020.11)
