NDRG1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NDRG1 (HGNC:7679) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- N-myc downstream regulated 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CAP43
- Alias symbols
- DRG1, RTP, TDD5, NDR1
- %HI
- 26.62(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.01(Read more about gnomAD pLI score)
- LOEUF
- 0.58(Read more about gnomAD LOEUF score)
- Cytoband
- 8q24.22
- Genomic Coordinates
-
GRCh37/hg19: chr8:134249418-134309495 NCBI Ensembl UCSC GRCh38/hg38: chr8:133237175-133297252 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006096.4 ENST00000323851.13 (Read more about MANE Select)
- Function
- Stress-responsive protein involved in hormone responses, cell growth, and differentiation. Acts as a tumor suppressor in many cell types. Necessary but not sufficient for p53/TP53-mediated caspase activation and apoptosis. Has a role in cell trafficking, notably of the Schwann cell, and is necessary for the maintenance and development of the peripheral nerve myelin sheath. Required for vesicular recycling of CDH1 and TF. May also function in lipid trafficking. Protects cells from spindle disrupt... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-20450
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:
- Charcot-Marie-Tooth disease type 4D Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000008.10)
(NC_000008.11)