Evidence Detail for SETD1A

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Basic Information Top
Gene Symbol:SETD1A ( KIAA0339,KMT2F,Set1,Set1A )
Gene Full Name: SET domain containing 1A
Band: 16p11.2
Quick LinksEntrez ID:9739; OMIM: 611052; Uniprot ID:SET1A_HUMAN; ENSEMBL ID: ENSG00000099381
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) No 0 (0) 1 (1) 2 (4) 0 (0) 0 (0) 1 (1) 12 (2)
Syndromic Autism Gene Top
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
Casey, 2011_1 human bloodASD Homozygous Haplotye mapping
  • Subjects: 2584 trios
  • Normal Controls: -
  • Methods: Illumina 1M/1Mduo Genechip
  • Evidence Details: Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.266).
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
-autism 16
1.00971 Up 64.1793
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1714327
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000017 16 16p11.2 gain 11 7 Overlapping/Recurrent CNVs; Denovo CNVs; Weiss, 2008
AutCNV0000018 16 16p11.2 loss 13 5 Overlapping/Recurrent CNVs; Denovo CNVs; Weiss, 2008
AutCNV0000152 16 16p11.2 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000186 16 16p11.2 gain 1 - Other; Denovo CNVs; Marshall, 2008
AutCNV0000260 16 16p11.2 gain 2 - Overlapping/Recurrent CNVs; Finelli, 2004
AutCNV0000369 16 16p11.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000370 16 16p11.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
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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