AutismKB

Evidence Detail for SEZ6L2


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Basic Information Top
Gene Symbol:SEZ6L2 ( FLJ90517,PSK-1 )
Gene Full Name: seizure related 6 homolog (mouse)-like 2
Band: 16p11.2
Quick LinksEntrez ID:26470; OMIM: ; Uniprot ID:SE6L2_HUMAN; ENSEMBL ID: ENSG00000174938
Sequences Top
>SEZ6L2|26470|nucleotide
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>SEZ6L2|26470|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 3 (14) 0 (0) 0 (0) 3 (5) 27 (5)
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
Kumar, 2009_1 human bloodASD genetics: mutation screen
  • Subjects: 93
  • Normal Controls: 93
  • Methods: resequencing coding and promoter regions
  • Evidence Details: 7 nonsynonymous mutations and 2 synonymous mutation were found in the cases but not in controls.
Kumar, 2009_2 human bloodASD genetics
  • Subjects: 1106
  • Normal Controls: 1161
  • Methods: PCR, sequencing
  • Evidence Details: Among all individuals studied, we found a statistically significant association between R386H and autism (12/1106 autism versus 3/1161 controls; Fisher
Kumar, 2009_3 human bloodASD genetics
  • Subjects: 529
  • Normal Controls: 570
  • Methods: PCR, sequencing
  • Evidence Details: We performed a replication study of R386H in independent autism and control cohorts, which failed to replicate our initial findings (4/529 autism versus 9/570 control; Fishers exact two tailed p = 0.42).
Kumar, 2009_4 mouse embryos--- RNA expression
  • Subjects: -
  • Normal Controls: -
  • Methods: in situ hybridization
  • Evidence Details: Sez6l2 expression in mouse embryos was restricted to the spinal cord and brain.
Kumar, 2009_5 human fetal brain--- RNA expression
  • Subjects: -
  • Normal Controls: -
  • Methods: in situ hybridization
  • Evidence Details: SEZ6L2 expression in human fetal brain was highest in post-mitotic cortical layers, hippocampus, amygdala, and thalamus.
Konyukh, 2011_1 human bloodASD genetics: linkage analysis
  • Subjects: 170
  • Normal Controls: 282
  • Methods: derect sequencing
  • Evidence Details: No enrichment of non-synonymous variation in SEZ6L2 was observed in the ASD group compared with controls
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000012 16 16p11.2 loss 1 - Denovo CNVs; Sebat, 2007
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
AutCNV0000151 16 16p11.2 loss 2 - Overlapping/Recurrent CNVs; Denovo CNVs; Marshall, 2008
AutCNV0000152 16 16p11.2 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000185 16 16p11.2 gain 1 - Other; Marshall, 2008
AutCNV0000186 16 16p11.2 gain 1 - Other; Denovo CNVs; Marshall, 2008
AutCNV0000187 16 16p11.2 loss 2 - Overlapping/Recurrent CNVs; Other; Denovo CNVs; Marshall, 2008
AutCNV0000193 16 16p11.2 loss 4 0 Overlapping/Recurrent CNVs; Kumar, 2008
AutCNV0000232 16 16p11.2 loss 3 - Overlapping/Recurrent CNVs; Denovo CNVs; Christian, 2008
AutCNV0000233 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Denovo CNVs; Christian, 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
AutCNV0000669 16 16p11.2 loss 1 1 CNVs Only Present In Patients; Shen, 2010
AutCNV0000719 16 16p11.2 gain 2 - Overlapping/Recurrent CNVs; Bremer, 2011
AutCNV0000794 16 16p11.2 loss 1 - DeNovo Pinto, 2010
AutCNV0000810 16 16p11.2 loss 1 - DeNovo Pinto, 2010
AutCNV0000811 16 16p11.2 loss 1 - DeNovo Pinto, 2010
AutCNV0000812 16 16p11.2 gain 1 - DeNovo Pinto, 2010
AutCNV0003726 16 16p11.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003843 16 16p11.2 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0003844 16 16p11.2 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0003845 16 16p11.2 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0003846 16 16p11.2 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0003847 16 16p11.2 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0003848 16 16p11.2 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0003849 16 16p11.2 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0003850 16 16p11.2 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0003851 16 16p11.2 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0003852 16 16p11.2 gain 1 - Denovo CNVs; Levy, 2011
AutCNV0004335 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004336 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004337 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004338 16 16p11.2 loss 2 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004339 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004340 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004341 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004342 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004343 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004344 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004345 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004346 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004347 16 16p11.2 loss 2 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004348 16 16p11.2 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004349 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004350 16 16p11.2 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004351 16 16p11.2 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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