The NSD1 gene homepage

General information
Gene symbol NSD1
Gene name nuclear receptor binding SET domain protein 1
Chromosome 5
Chromosomal band q35
Imprinted Unknown
Genomic reference NG_009821.1
Transcript reference NM_022455.4
Exon/intron information NM_022455.4 exon/intron table
Associated with diseases AML, BWS, ID, SOTOS, SOTOS-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 498
Unique public DNA variants reported 388
Individuals with public variants 760
Hidden variants 24
Download all this gene's data Download all data
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created January 01, 2008
Date last updated April 07, 2021
Version NSD1:210407

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_022455.4.
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
HGNC 14234
Entrez Gene 64324
PubMed articles NSD1
OMIM - Gene 606681
OMIM - Diseases AML (leukemia, myeloid, acute (AML))
BWS (Beckwith-Wiedemann syndrome (BWS))
SOTOS-1 (Sotos syndrome, type 1 (SOTOS-1))
GeneCards NSD1
GeneTests NSD1
Orphanet NSD1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000150 5 nuclear receptor binding SET domain protein 1, transcript variant 2 NM_022455.4 NP_071900.2 498

Copyright & disclaimer
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