• 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)