Gene: NSD1

Alternate names for this Gene: ARA267|KMT3B|SOTOS|SOTOS1|STO

Gene Summary: This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.3

Description of this Gene: nuclear receptor binding SET domain protein 1

Type of Gene: protein-coding

rs1554189512 in NSD1 gene and Beckwith-Wiedemann Syndrome PMID 16232326 2005 Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.

PMID 16247291 2005 NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.

PMID 15742365 2005 Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

PMID 15942875 2005 Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 21972110 2011 NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome.

PMID 22924495 2012 Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.

PMID 12464997 2003 NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

PMID 14571271 2003 Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

PMID 12807965 2003 Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

PMID 21196496 2011 The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation.

PMID 26690673 2015 NSD1 mutations generate a genome-wide DNA methylation signature.

PMID 24412544 2014 Substrate specificity analysis and novel substrates of the protein lysine methyltransferase NSD1.

PMID 27604501 2016 Somatic-gonadal mosaicism causing Sotos syndrome.

rs34022431 in NSD1 gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs11950938 in NSD1 gene and Body Height PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs114167666 in NSD1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1057516048 in NSD1 gene and Broad forehead PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1554189042 in NSD1 gene and Dysmorphic features PMID 23592277 2013 The NSD1 and EZH2 overgrowth genes, similarities and differences.

PMID 23913520 2013 The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?

PMID 11896389 2002 Haploinsufficiency of NSD1 causes Sotos syndrome.

PMID 12464997 2003 NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

PMID 17825104 2007 Sotos syndrome.

PMID 14571271 2003 Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

PMID 23599694 2013 Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

PMID 15942875 2005 Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

PMID 12807965 2003 Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

rs28932178 in NSD1 gene and High density lipoprotein measurement PMID 29083408 2017 Exome-wide association study of plasma lipids in >300,000 individuals.

rs1057516048 in NSD1 gene and Large head (disorder) PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516048 in NSD1 gene and Melanocortin 4 Receptor Deficiency PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516048 in NSD1 gene and Mild Mental Retardation PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1554189042 in NSD1 gene and Multiple congenital anomalies PMID 12807965 2003 Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

PMID 11896389 2002 Haploinsufficiency of NSD1 causes Sotos syndrome.

PMID 15942875 2005 Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

PMID 17825104 2007 Sotos syndrome.

PMID 23592277 2013 The NSD1 and EZH2 overgrowth genes, similarities and differences.

PMID 12464997 2003 NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

PMID 14571271 2003 Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

PMID 23599694 2013 Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

PMID 23913520 2013 The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?

rs3088050 in NSD1 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs1057516048 in NSD1 gene and Pointed chin PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516048 in NSD1 gene and SOTOS SYNDROME 1 PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 14997421 2004 Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

PMID 11896389 2002 Haploinsufficiency of NSD1 causes Sotos syndrome.

PMID 12464997 2003 NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

PMID 12807965 2003 Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

PMID 26896805 2016 Structural basis for PHDVC5HCHNSD1-C2HRNizp1 interaction: implications for Sotos syndrome.

PMID 15942875 2005 Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

PMID 17565729 2007 Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.

PMID 14627693 2003 Identification of eight novel NSD1 mutations in Sotos syndrome.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 15742365 2005 Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

rs1057516048 in NSD1 gene and Tall stature PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516048 in NSD1 gene and Umbilical hernia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs76004499 in NSD1 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs3088050 in NSD1 gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs10476217 in NSD1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

rs10037055 in NSD1 gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.