AutismKB

Evidence Detail for PRKX


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Basic Information Top
Gene Symbol:PRKX ( PKX1 )
Gene Full Name: protein kinase, X-linked
Band: Xp22.3
Quick LinksEntrez ID:5613; OMIM: 300083; Uniprot ID:PRKX_HUMAN; ENSEMBL ID: ENSG00000183943
Sequences Top
>PRKX|5613|nucleotide
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>PRKX|5613|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 (2) 0 (0) 1 (4) 0 (0) 0 (0) 1 (1) 21 (3)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Wang, 2009_1 Discovery 1 (detail) 780 1299
(-)
ASD -
-
-
-
Case Control Based Association Studies: 1
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Wang, 2009_2 Discovery 1 (detail) 1204
(-)
ASD 10.3±6.6
-
10.9±6.7 6491
(-)
8.8±5.4
-
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Piton, 2010_1 human bloodASD genetics: mutation screen
  • Subjects: 142( 122 males and 20 females)
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: Exonic variants identified during the the screening of the 186 X-linked synapic genes
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000161 X Xp22.33-22.31 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0000299 X Xp22 loss 1 - Denovo CNVs; Thomas, 1999
AutCNV0000300 X Xp22 loss 1 - Denovo CNVs; Thomas, 1999
AutCNV0000301 X Xp22 loss 1 - Denovo CNVs; Thomas, 1999
AutCNV0000713 X Xp11.2-p22.33 gain 1 - CNVs Only Present In Patients; Edens, 2011
AutCNV0004398 X Xp22.32-p22.33 loss 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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