The 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_006987.2
Transcript reference NM_133433.3
Exon/intron information NM_133433.3 exon/intron table
Associated with diseases CDLS, CDLS-1, ID
Citation reference(s) PubMed: Oliveira 2010
Refseq URL Genomic reference sequence
Curators (1) Jorge Oliveira
Total number of public variants reported 475
Unique public DNA variants reported 369
Individuals with public variants 405
Hidden variants 41
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 September 17, 2021
Version NIPBL:210917

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
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
Orphanet NIPBL


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024041 5 transcript variant A NM_133433.3 NP_597677.2 475


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