AutismKB

Evidence Detail for TPH2


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Basic Information Top
Gene Symbol:TPH2 ( ADHD7,FLJ37295,MGC138871,MGC138872,NTPH )
Gene Full Name: tryptophan hydroxylase 2
Band: 12q21.1
Quick LinksEntrez ID:121278; OMIM: 607478; Uniprot ID:TPH2_HUMAN; ENSEMBL ID: ENSG00000139287
Sequences Top
>TPH2|121278|nucleotide
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>TPH2|121278|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 0 (1) 0 (0) 1 (1) 0 (0) 2 (6) 0 (0) 8 (9)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 4
Case Control Based Association Studies: 2
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Coon, 2005_1 USA, Italy 18 (detail) 88
(9.09%)
ASD 13.53
-
82.56 95
(-)
-
-
ASIAN
Egawa, 2012_1 Japanese 19 (detail) 150
(20.67%)
ASD 15.3±7.2
-
- 620
(48.87%)
38.2±10.6
-
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
Hussman, 2011_1 Discovery 1 (detail) 597 -
(-)
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
AutCNV0000102 12 12q12-24.33 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
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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