AutismKB

Evidence Detail for LOC348840


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Basic Information Top
Gene Symbol:LOC348840 ( - )
Gene Full Name: -
Band: 3q29
Quick LinksEntrez ID:348840; 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) 1 (1) 1 (1) 0 (0) 0 (0) 4 (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
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
(-)
-0.69 Down -
  • Platform: TIGR 40K Human Set
  • ProbeSet: -
  • RefSeq_ID/ EST: AI223429
  • 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
AutCNV0000919 3 3q29 gain 1 - maternal Pinto, 2010
AutCNV0001692 3 3q29 gain 1 - paternal Pinto, 2010
AutCNV0002468 3 3q29 gain 1 - maternal Pinto, 2010
AutCNV0002469 3 3q29 gain 1 - maternal Pinto, 2010
AutCNV0002470 3 3q29 gain 1 - maternal Pinto, 2010
AutCNV0002471 3 3q29 gain 1 - maternal Pinto, 2010
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000048 3q29 3 D3S2418 2.45 - - Risch, 1999

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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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