Evidence Detail for NSD1

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Basic Information Top
Gene Symbol:NSD1 ( ARA267,DKFZp666C163,FLJ10684,FLJ22263,FLJ44628,KMT3B,SOTOS,STO )
Gene Full Name: nuclear receptor binding SET domain protein 1
Band: 5q35
Quick LinksEntrez ID:64324; OMIM: 606681; Uniprot ID:NSD1_HUMAN; ENSEMBL ID: ENSG00000165671
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (1) 2 (1)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
OMIMSotos syndrome (117550)
DescriptionSotos syndrome (overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features and learning disabilities). The proportion of subjects with Sotos that have ASD is unknown, as only isolated cases have been reported
Reference(s)16419094; 15318025; 15070547; 10766977; 2347353; 11942428; 16980810; 2055890; 18001468; 2347353;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Buxbaum, 2007_1 human blood--ASD genetics: mutation screen
  • Subjects: 88
  • Normal Controls: -
  • Methods: mutation screen, multiplex ligation-dependent probe amplification (MLPA)
  • Evidence Details: We identified three missense variants (R604L, S822C and E1499G) in one patient each, but none is within a functional domain. In addition, segregation analysis showed that all variants were inherited from healthy parents and in two cases were also present in unaffected siblings, indicating that they are probably nonpathogenic. No partial or whole gene deletions/duplications were observed.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0004248 5 5q35.2-q35.3 loss 1 - CNVs Only Present In Patients; Sanders, 2011
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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