AutismKB

Evidence Detail for POU6F2


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Basic Information Top
Gene Symbol:POU6F2 ( RPF-1,WT5,WTSL )
Gene Full Name: POU class 6 homeobox 2
Band: 7p14.1
Quick LinksEntrez ID:11281; OMIM: 609062; Uniprot ID:PO6F2_HUMAN; ENSEMBL ID: ENSG00000106536
Sequences Top
>POU6F2|11281|nucleotide
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>POU6F2|11281|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 2 (4) 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 15 (5)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 4
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Anney, 2010_1 Discovery 1 (detail) 1369 1385
(-)
ASD -
-
-
-
Anney, 2010_3 Discovery 2 (detail) 897 909
(-)
ASD -
-
-
-
Anney, 2010_2 Replication 1 (detail) 595 1086
(-)
ASD -
-
-
-
Anney, 2010_4 Replication 2 (detail) 476 702
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000255 7 7p11.2-14.1 gain 1 - CNVs Only Present In Patients; Wolpert, 2001
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000145 7p11.2-14.1 7 - - 3.18 - Allen-Brady, 2008

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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
  • Click to Download Data

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