AutismKB

Evidence Detail for LOC91316


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Basic Information Top
Gene Symbol:LOC91316 ( FLJ52668 )
Gene Full Name: -
Band: 22q11.23
Quick LinksEntrez ID:91316; OMIM: ; Uniprot ID:; ENSEMBL ID:
Sequences Top
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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) 1 (1) 2 (6) 0 (0) 0 (0) 0 (0) 5 (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
Hu, 2006_1 Unknown lymphoblastoid cell lines 3
(-)
monozygotic twins with different severityautism 3
(-)
-1.98 Down -
  • Platform: TIGR 40K Human Set
  • ProbeSet: -
  • RefSeq_ID/ EST: H18423
  • GEO_ID: GSE4187
  • Statistic Method: SAM and corrected by FDR (with MeV)
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
AutCNV0000269 22 22q11 loss 1 - CNVs Only Present In Patients; Roubertie, 2001
AutCNV0000270 22 22q11 loss 1 - CNVs Only Present In Patients; Niklasson, 2002
AutCNV0000392 22 22q11.2 gain 1 - CNVs Only Present In Patients; Ramelli, 2008
AutCNV0003008 22 22q11.23 gain 1 - maternal Pinto, 2010
AutCNV0004025 22 22q11.23 gain 1 - CNVs Only Present In Patients; Levy, 2011
AutCNV0004393 22 22q11.23 gain 1 - CNVs Only Present In Patients; Sanders, 2011
Linkage Studies Top

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  (e.g. NLGN4X)

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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