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

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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 (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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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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