NR0B1 gene homepage

General information
Gene symbol NR0B1
Gene name nuclear receptor subfamily 0, group B, member 1
Chromosome X
Chromosomal band p21.3
Imprinted Unknown
Genomic reference NG_009814.1
Transcript reference NM_000475.4
Exon/intron information NM_000475.4 exon/intron table
Associated with diseases AHC, SRXY-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Bert Bakker
Total number of public variants reported 158
Unique public DNA variants reported 141
Individuals with public variants 200
Hidden variants 1
Download all this gene's data Download all data
Notes Alias: DAX1
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 28, 2006
Date last updated August 22, 2019
Version NR0B1:190822

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000475.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/NR0B1
External URL Orphanet
HGNC 7960
Entrez Gene 190
PubMed articles NR0B1
OMIM - Gene 300473
OMIM - Diseases AHC (adrenal hypoplasia, congenital (AHC, with hypogonadotropic hypogonadism))
SRXY-2 (46,XY sex reversal, type 2 (SRXY-2))
HGMD NR0B1
GeneCards NR0B1
GeneTests NR0B1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014799 X nuclear receptor subfamily 0, group B, member 1 NM_000475.4 NP_000466.2 158


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2006-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.