NIPBL gene homepage

General information
Gene symbol NIPBL
Gene name Nipped-B homolog (Drosophila)
Chromosome 5
Chromosomal band p13.2
Imprinted Unknown
Genomic reference NG_006987.1
Transcript reference NM_133433.3
Exon/intron information NM_133433.3 exon/intron table
Associated with diseases CDLS, CDLS-1, ID
Citation reference(s) Oliveira (2010) Development of NIPBL locus-specific database using LOVD
Refseq URL Genomic reference sequence
Curators (1) Jorge Oliveira
Total number of public variants reported 412
Unique public DNA variants reported 319
Individuals with public variants 345
Hidden variants 30
Download all this gene's data Download all data
Notes Establishment of this gene variant database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created October 27, 2008
Date last updated January 13, 2019
Version NIPBL:190113

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_133433.3.
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 https://www.LOVD.nl/NIPBL
External URL Orphanet
HGNC 28862
Entrez Gene 25836
PubMed articles NIPBL
OMIM - Gene 608667
OMIM - Diseases CDLS-1 (Cornelia de Lange syndrome, type 1 (CDLS-1))
HGMD NIPBL
GeneCards NIPBL
GeneTests NIPBL


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024041 5 transcript variant A NM_133433.3 NP_597677.2 412


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 © 2008-2019. 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.