AutismKB

Evidence Detail for SEPT2


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Basic Information Top
Gene Symbol:SEPT2 ( DIFF6,KIAA0158,NEDD5,Pnutl3,hNedd5 )
Gene Full Name: septin 2
Band: 2q37
Quick LinksEntrez ID:4735; OMIM: 601506; Uniprot ID:SEPT2_HUMAN; ENSEMBL ID: ENSG00000168385
Sequences Top
>SEPT2|4735|nucleotide
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>SEPT2|4735|protein
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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) 1 (2) 0 (0) 0 (0) 0 (0) 3 (1)
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
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
Gregg, 2008_2 mixed lymphoblastoid cell lines 17
(11.76%)
autism with early onset autism 12
(25.00%)
1.506 Up 0.0375
  • Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
  • ProbeSet: 200778_s_at
  • RefSeq_ID/ EST: AI191427
  • GEO_ID: GSE6575
  • Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini
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
AutCNV0000002 2 2q37.2-q37.3 loss 1 - Denovo CNVs; Sebat, 2007
AutCNV0000003 2 2q37.3 loss 1 - Denovo CNVs; Sebat, 2007
AutCNV0004213 2 2q37.2-q37.3 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004214 2 2q37.3 loss 1 - Overlapping/Recurrent CNVs; 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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