NR0B1 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NR0B1 (HGNC:7960) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- nuclear receptor subfamily 0 group B member 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- AHC, DSS
- Alias symbols
- DAX1, AHCH
- %HI
- 15.44(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.97(Read more about gnomAD pLI score)
- LOEUF
- 0.28(Read more about gnomAD LOEUF score)
- Cytoband
- Xp21.2
- Genomic Coordinates
-
GRCh37/hg19: chrX:30322323-30327507 NCBI Ensembl UCSC GRCh38/hg38: chrX:30304206-30309390 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000475.5 ENST00000378970.5 (Read more about MANE Select)
- Function
- Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity). {ECO:0000250}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- X-linked adrenal hypoplasia congenita Monarch
-
PUBMED:
16684822
Lin et al. (2006) described a total of 37 DAX1/NR0B1 mutations and deletions found from a total of 117 individuals with primary adrenal hypoplasia referred over a ten-year period, including 7 nonsense mutations, 12 frameshift mutations, 8 missense mutations, and 8 deletions including only the NR0B1 gene. All of these changes were identified in 46,XY phenotypic males who had presented with primary adrenal failure in infancy or childhood.
-
PUBMED:
15841486
Krone et al., (2005) described 13 novel variants in NR0B1, including 3 nonsense mutations, 5 intragenic duplications, and 5 intragenic deletions identified in 14 male patients with AHC (X-linked adrenal hypoplasia congenita) in infancy or childhood (prepubertal age) in a total cohort of 35 unrelated patients. All of the variants resulted in a premature stop codon destroying the ligand binding domain of the predictive DAX1/NR0B1 protein. No detailed family history was recorded.
-
PUBMED:
11748852
Zhang YH et al. (2001) describe 11 NR0B1 mutations in patients with AHC including six frameshift, two nonsense and two missense mutations from patients diagnosed with clinical features of AHC. No family history were recorded.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.