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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NSD1 Gene

protein-coding   GIFtS: 61
GCID: GC05P176560

Nuclear Receptor Binding SET Domain Protein 1

(Previous name: Sotos syndrome)
(Previous symbol: STO)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Nuclear Receptor Binding SET Domain Protein 11 2     KMT3B2 3
STO1 2 5     NR-Binding SET Domain-Containing Protein2 3
ARA2672 3 5     EC 2.1.1.433 8
Androgen Receptor Coactivator 267 KDa Protein2 3     Sotos Syndrome1
Androgen Receptor-Associated Protein Of 267 KDa2 3     SOTOS2
Lysine N-Methyltransferase 3B2 3     SOTOS12
Nuclear Receptor-Binding SET Domain-Containing Protein 12 3     Androgen Receptor-Associated Coregulator 2672
H3-K36-HMTase2 3     Histone-Lysine N-Methyltransferase, H3 Lysine-36 And H4 Lysine-20 Specific2
H4-K20-HMTase2 3     

External Ids:    HGNC: 142341   Entrez Gene: 643242   Ensembl: ENSG000001656717   OMIM: 6066815   UniProtKB: Q96L733   

Export aliases for NSD1 gene to outside databases

Previous GC identifers: GC05P176935 GC05P177404 GC05P176496 GC05P176541 GC05P176493 GC05P171481


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NSD1 Gene:
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. Two transcript variants encoding distinct isoforms
have been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for NSD1 Gene: 
NSD1 (nuclear receptor binding SET domain protein 1) is a protein-coding gene. Diseases associated with NSD1 include sotos syndrome, and lipedema. GO annotations related to this gene include chromatin binding and transcription cofactor activity. An important paralog of this gene is EZH1.

UniProtKB/Swiss-Prot: NSD1_HUMAN, Q96L73
Function: Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4
(in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing
transcription, depending on the cellular context




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_023133.13  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NSD1 gene promoter:
         Pax-5   FOXO4   Nkx2-5   GATA-2   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNSD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NSD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NSD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q35   Ensembl cytogenetic band:  5q35.2   HGNC cytogenetic band: 5q35

NSD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NSD1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P176560:  view genomic region     (about GC identifiers)

Start:
176,560,026 bp from pter      End:
176,727,216 bp from pter
Size:
167,191 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NSD1_HUMAN, Q96L73 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific  
Size: 2696 amino acids; 296652 Da
Subunit: Interacts with the ligand-binding domains of RARA and THRA in the absence of ligand; in the presence of
ligand the interaction is severely disrupted but some binding still occurs. Interacts with the ligand-binding
domains of RXRA and ESRRA only in the presence of ligand. Interacts with ZNF496 (By similarity). Interacts with
AR DNA- and ligand-binding domains
Subcellular location: Nucleus. Chromosome (Probable)
1 PDB 3D structure from and Proteopedia for NSD1:
3OOI (3D)    
Secondary accessions: Q96PD8 Q96RN7
Alternative splicing: 3 isoforms:  Q96L73-1   Q96L73-2   Q96L73-3   

Explore the universe of human proteins at neXtProt for NSD1: NX_Q96L73

Explore proteomics data for NSD1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96L73

  • 4/9 DME Specific Peptides for NSD1 (Q96L73) (see all 9)
     CGKFYHE  WWPAEIC  ELTFNYN  RCPVAYH 

    NSD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NSD1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_071900.2  NP_758859.1  

    ENSEMBL proteins: 
     ENSP00000423982   ENSP00000423372   ENSP00000395929   ENSP00000426428   ENSP00000343209  
     ENSP00000364499   ENSP00000425120   ENSP00000424024   ENSP00000422996   ENSP00000424096  
     ENSP00000423048   ENSP00000354310   ENSP00000346111  

    Human Recombinant Protein Products for NSD1: 
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    Novus Biologicals NSD1 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NSD1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005694chromosome IEA--

    NSD1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for NSD1 
    Cloud-Clone Corp. CLIAs for NSD1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KMT: Chromatin-modifying enzymes / K-methyltransferases
    PHF: Zinc fingers, PHD-type

    5/10 InterPro protein domains (see all 10):
     IPR001214 SET_dom
     IPR019786 Zinc_finger_PHD-type_CS
     IPR001841 Znf_RING
     IPR001965 Znf_PHD
     IPR003616 Post-SET_dom

    Graphical View of Domain Structure for InterPro Entry Q96L73

    ProtoNet protein and cluster: Q96L73

    5 Blocks protein domains:
    IPB000313 PWWP domain
    IPB001214 Nuclear protein SET
    IPB001841 Zn-finger
    IPB001965 Zn-finger-like
    IPB003616 SET-related region


    UniProtKB/Swiss-Prot: NSD1_HUMAN, Q96L73
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily
    Similarity: Contains 1 AWS domain
    Similarity: Contains 4 PHD-type zinc fingers
    Similarity: Contains 1 post-SET domain
    Similarity: Contains 2 PWWP domains
    Similarity: Contains 1 SET domain


    NSD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NSD1_HUMAN, Q96L73
    Function: Histone methyltransferase. Preferentially methylates 'Lys-36' of histone H3 and 'Lys-20' of histone H4
    (in vitro). Transcriptional intermediary factor capable of both negatively or positively influencing
    transcription, depending on the cellular context
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]

         Enzyme Number (IUBMB): EC 2.1.1.431 2

         Gene Ontology (GO): 5/15 molecular function terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding ISS--
    GO:0003712transcription cofactor activity IDA11509567
    GO:0003714transcription corepressor activity ISS--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IDA--
         
    NSD1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NSD1:
     Cell cycle / mitosis defect  Increased cell death HMECs cel 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nsd1):
     embryogenesis  mortality/aging  no phenotypic analysis 

    NSD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nsd1tm1.1Pcn for NSD1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NSD1 
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    SwitchGear 3'UTR luciferase reporter plasmidNSD1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NSD1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Lysine degradation
    Lysine degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for NSD1):
        Lysine degradation


    NSD1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NSD1

    5/8 Interacting proteins for NSD1 (Q96L733) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARP102753I2D: score=2 
    ZNF496Q96IT13I2D: score=2 
    AFF1P518253I2D: score=1 
    ESR1P033723I2D: score=1 
    RARAP102763I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0001702gastrulation with mouth forming second IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0010452histone H3-K36 methylation ISS--
    GO:0016571histone methylation ISS--

    NSD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NSD1

    3 HMDB Compounds for NSD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Lysine(+)-S-Lysine (see all 25)56-87-1--
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--

    Search CenterWatch for drugs/clinical trials and news about NSD1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NSD1 gene (2 alternative transcripts): 
    NM_022455.4  NM_172349.2  

    Unigene Cluster for NSD1:

    Nuclear receptor binding SET domain protein 1
    Hs.106861  [show with all ESTs]
    Unigene Representative Sequence: NM_022455
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000512992 ENST00000510954 ENST00000508896 ENST00000602285 ENST00000439151(uc003mfp.2 uc003mfq.3 uc003mfr.4 uc003mfs.1 uc011dfx.2 uc021yip.1)
    ENST00000511258 ENST00000347982 ENST00000375350 ENST00000508029 ENST00000503056
    ENST00000504457 ENST00000505395 ENST00000515735 ENST00000513736 ENST00000361032
    ENST00000354179(uc003mft.4)
    miRNA
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    8/128 QIAGEN miScript miRNA Assays for microRNAs that regulate NSD1 (see all 128):
    hsa-miR-100* hsa-miR-520f hsa-miR-642a hsa-miR-300 hsa-miR-146a hsa-miR-128 hsa-miR-30d hsa-miR-342-3p
    SwitchGear 3'UTR luciferase reporter plasmidNSD1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF085858.1 AF380302.1 AF395588.1 AK001546.1 AK025916.1 AK026066.1 AK055187.1 AK056667.1 
    AK091358.1 AK126591.1 AL832983.1 AY049721.1 BC021961.2 BC139789.1 BC144629.1 BC150628.1 

    21 DOTS entries:

    DT.413122  DT.97844266  DT.207473  DT.102833101  DT.203517  DT.101955886  DT.120875080  DT.95371947 
    DT.91892016  DT.120875125  DT.95261209  DT.95367413  DT.100650285  DT.120875095  DT.120875108  DT.120875152 
    DT.40264747  DT.75128463  DT.92416826  DT.100772549  DT.91982428 

    24/168 AceView cDNA sequences (see all 168):

    AF395588 AI590839 CK431014 AA443596 NM_172349 BM754679 AF380302 BE885420 
    AL832983 BM479849 BM983174 AA552939 BX489775 BQ212754 AA664396 AK056667 
    BU101540 AW962112 BM835068 BM457114 BC021961 AK055187 AW196354 AA972919 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NSD1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b ^
    SP1:                                                                                                  -                                   -                     
    SP2:                                                                                                  -                                   -                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            

    ExUns: 24
    SP1:      
    SP2:      
    SP3:      
    SP4:      


    ECgene alternative splicing isoforms for NSD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NSD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTGTAATT
    NSD1 Expression
    About this image


    See NSD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NSD1

    SOURCE GeneReport for Unigene cluster: Hs.106861

    UniProtKB/Swiss-Prot: NSD1_HUMAN, Q96L73
    Tissue specificity: Expressed in the fetal/adult brain, kidney, skeletal muscle, spleen, and the thymus, and
    faintly in the lung

        SABiosciences Expression via Pathway-Focused PCR Arrays including NSD1: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSD1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NSD1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nsd11 , 5 nuclear receptor-binding SET-domain protein 11, 5 86.03(n)1
    84.18(a)1
      13 (29.80 cM)5
    181931  NM_008739.31  NP_032765.31 
     552097825 
    chicken
    (Gallus gallus)
    Aves NSD11 nuclear receptor binding SET domain protein 1 62.97(n)
    57.62(a)
      416214  XM_414538.3  XP_414538.3 
    lizard
    (Anolis carolinensis)
    Reptilia NSD16
    Uncharacterized protein
    53(a)
    1 ↔ 1
    2(145380212-145417378)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.203602 Transcribed sequence with weak similarity to protein more 80.21(n)    141991062 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.197442 Transcribed sequence with weak similarity to protein more 75.48(n)    BI876105.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mes-46
    Mes-4
    23(a)
    1 → many
    3R(23758704-23763571)
    rice
    (Oryza sativa)
    Liliopsida Os.276222 Oryza sativa (japonica cultivar-group) cDNA clone0 more 75.49(n)    AK060843.1 


    ENSEMBL Gene Tree for NSD1 (if available)
    TreeFam Gene Tree for NSD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NSD1 gene
    EZH12  ASH1L2  WHSC12  WHSC1L12  SUV39H22  SETBP12  SUV39H12  SETD22  
    EHMT12  EHMT22  EZH22  
    18/59 SIMAP similar genes for NSD1 using alignment to 12 protein entries:     NSD1_HUMAN (see all proteins) (see all similar genes):
    DKFZp666C163    MTA3    COX7A2    IFT122    TMEM67    ZNF568
    ZNF415    ZNF480    TJP1    HGSNAT    PSD3    THADA
    ZNF23    ZNF738    ZNF83    ATL2    BCL2L13    LAMA5

    NSD1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3265 SNPs in NSD1 are shown (see all 3265)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0157864
    Sotos syndrome 1 (SOTOS1)4--see VAR_0157862 G D mis40--------
    VAR_0157874
    Sotos syndrome 1 (SOTOS1)4--see VAR_0157872 R Q mis40--------
    VAR_0157934
    Sotos syndrome 1 (SOTOS1)4--see VAR_0157932 C S mis40--------
    VAR_0157884
    Sotos syndrome 1 (SOTOS1)4--see VAR_0157882 Y C mis40--------
    VAR_0157854
    Sotos syndrome 1 (SOTOS1)4--see VAR_0157852 C R mis40--------
    VAR_0157834
    Sotos syndrome 1 (SOTOS1)4--see VAR_0157832 I N mis40--------
    VAR_0157914
    Sotos syndrome 1 (SOTOS1)4--see VAR_0157912 R W mis40--------
    VAR_0157824
    Sotos syndrome 1 (SOTOS1)4--see VAR_0157822 C W mis40--------
    VAR_0157904
    Sotos syndrome 1 (SOTOS1)4--see VAR_0157902 R Q mis40--------
    VAR_0157804
    Sotos syndrome 1 (SOTOS1)4--see VAR_0157802 H L mis40--------

    HapMap Linkage Disequilibrium report for NSD1 (176560026 - 176727216 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for NSD1 (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1011107CNV Deletion20482838
    esv2664525CNV Deletion23128226
    esv2659977CNV Deletion23128226
    nsv509101CNV Insertion20534489
    nsv883157CNV Loss21882294
    nsv883159CNV Loss21882294
    nsv521574CNV Loss19592680
    dgv6379n71CNV Loss21882294
    nsv428132CNV Gain18775914
    dgv363n21CNV Gain19592680


    Human Gene Mutation Database (HGMD): NSD1

    Locus Specific Mutation Databases (LSDB): NSD1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NSD1
    DNA2.0 Custom Variant and Variant Library Synthesis for NSD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606681   
    OMIM disorders: 117550  601626  277590  130650  
    UniProtKB/Swiss-Prot: NSD1_HUMAN, Q96L73
  • Sotos syndrome 1 (SOTOS1) [MIM:117550]: A childhood overgrowth syndrome characterized by pre- and
    postnatal overgrowth, developmental delay, mental retardation, advanced bone age, and abnormal craniofacial
    morphology including macrodolichocephaly with frontal bossing, frontoparietal sparseness of hair, apparent
    hypertelorism, downslanting palpebral fissures, and facial flushing. Common oral findings include: premature
    eruption of teeth; high, arched palate; pointed chin and, more rarely, prognathism. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Beckwith-Wiedemann syndrome (BWS) [MIM:130650]: A disorder characterized by anterior abdominal wall
    defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less
    frequent complications include specific developmental defects and a predisposition to embryonal tumors. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Note=A chromosomal aberration involving NSD1 is found in childhood acute myeloid leukemia. Translocation
    t(5;11)(q35;p15.5) with NUP98
  • Note=A chromosomal aberration involving NSD1 is found in an adult form of myelodysplastic syndrome (MDS).
    Insertion of NUP98 into NSD1 generates a NUP98-NSD1 fusion product

  • 20/40 diseases for NSD1 (see all 40):    About MalaCards
    sotos syndrome    lipedema    weaver syndrome 1    beckwith-wiedemann syndrome due to nsd1 mutation
    5q35 microduplication syndrome    weaver syndrome    nevo syndrome    abdominal wall defect
    hypertonia    macroglossia    acute myeloid leukemia    beckwith-wiedemann syndrome
    omphalocele    refractory anemia    wolf-hirschhorn syndrome    myeloid leukemia
    alpha thalassemia    ganglioglioma    short stature    fainting

    2 diseases from the University of Copenhagen DISEASES database for NSD1:
    Sotos syndrome     Patent ductus arteriosus

    NSD1 for disorders           About GeneDecksing

    10/12 Novoseek inferred disease relationships for NSD1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sotos syndrome 99 118 14571271 (6), 11896389 (4), 14997421 (4), 15452385 (4) (see all 48)
    weaver syndrome 95.1 11 12464997 (3), 12807965 (2), 14571271 (2), 16232326 (2) (see all 5)
    macrocephaly 91 11 18001468 (5), 14571271 (2), 16010675 (1), 16770806 (1) (see all 5)
    developmental delay 75.9 2 15452385 (1), 16970856 (1)
    mental retardation 66.5 12 16192740 (2), 14571271 (2), 12807965 (1), 18682256 (1) (see all 5)
    beckwith-wiedemann syndrome 60 3 16010674 (1), 16192740 (1), 14997421 (1)
    aml childhood 56.3 2 11493482 (1), 12353270 (1)
    heart defects congenital 50.8 2 15742365 (1), 19596467 (1)
    short stature 48.7 1 16770806 (1)
    congenital disorders 39.2 1 16202954 (1)

    GeneTests: NSD1
    GeneReviews: NSD1
    Genetic Association Database (GAD): NSD1
    Human Genome Epidemiology (HuGE) Navigator: NSD1 (8 documents)

    Export disorders for NSD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NSD1 gene, integrated from 9 sources (see all 110):
    (articles sorted by number of sources associating them with NSD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Haploinsufficiency of NSD1 causes Sotos syndrome. (PubMed id 11896389)1, 2, 3, 9 Kurotaki N.... Matsumoto N. (2002)
    2. Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. (PubMed id 11733144)1, 2, 9 Kurotaki N....Matsumoto N. (2001)
    3. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. (PubMed id 12464997)1, 2, 9 Douglas J.... Rahman N. (2003)
    4. MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported. (PubMed id 19596467)1, 4, 9 Fagali C....Koiffmann C.P. (2009)
    5. Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. (PubMed id 17565729)1, 4, 9 Saugier-Veber P....Burglen L. (2007)
    6. Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations. (PubMed id 16780628)1, 4, 9 de Boer L....Wit J.M. (2006)
    7. Spectrum of NSD1 mutations in Sotos and Weaver syndromes. (PubMed id 12807965)1, 2, 9 Rio M.... Cormier-Daire V. (2003)
    8. Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. (PubMed id 18001468)1, 4, 9 Buxbaum J.D....Betancur C. (2007)
    9. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. (PubMed id 15742365)1, 4, 9 Cecconi M....Faravelli F. (2005)
    10. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. (PubMed id 14997421)1, 2, 9 Baujat G.... Colleaux L. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64324 HGNC: 14234 AceView: NSD1 Ensembl:ENSG00000165671 euGenes: HUgn64324
    ECgene: NSD1 Kegg: 64324 H-InvDB: NSD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NSD1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NSD1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NSD1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NSD1 gene:
    Search GeneIP for patents involving NSD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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