Evidence Details for TPH2

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	TPH2 ( ADHD7,FLJ37295,MGC138871,MGC138872,NTPH )
Gene Full Name:	tryptophan hydroxylase 2
Band:	12q21.1
Quick Links	Entrez ID:121278; OMIM: 607478; Uniprot ID:TPH2_HUMAN; ENSEMBL ID: ENSG00000139287; HGNC ID: 20692
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>TPH2|121278|nucleotide
ATGCAGCCAGCAATGATGATGTTTTCCAGTAAATACTGGGCACGGAGAGGGTTTTCCCTGGATTCAGCAGTGCCCGAAGAGCATCAGCTACTTGGCAGCTCAACA
CTAAATAAACCTAACTCTGGCAAAAATGACGACAAAGGCAACAAGGGAAGCAGCAAACGTGAAGCTGCTACCGAAAGTGGCAAGACAGCAGTTGTTTTCTCCTTG
AAGAATGAAGTTGGTGGATTGGTAAAAGCACTGAGGCTCTTTCAGGAAAAACGTGTCAACATGGTTCATATTGAATCCAGGAAATCTCGGCGAAGAAGTTCTGAG
GTTGAAATCTTTGTGGACTGTGAGTGTGGGAAAACAGAATTCAATGAGCTCATTCAGTTGCTGAAATTTCAAACCACTATTGTGACGCTGAATCCTCCAGAGAAC
ATTTGGACAGAGGAAGAAGAGCTAGAGGATGTGCCCTGGTTCCCTCGGAAGATCTCTGAGTTAGACAAATGCTCTCACAGAGTTCTCATGTATGGTTCTGAGCTT
GATGCTGACCACCCAGGATTTAAGGACAATGTCTATCGACAGAGAAGAAAGTATTTTGTGGATGTGGCCATGGGTTATAAATATGGTCAGCCCATTCCCAGGGTG
GAGTATACTGAAGAAGAAACTAAAACTTGGGGTGTTGTATTCCGGGAGCTCTCCAAACTCTATCCCACTCATGCTTGCCGAGAGTATTTGAAAAACTTCCCTCTG
CTGACTAAATACTGTGGCTACAGAGAGGACAATGTGCCTCAACTCGAAGATGTCTCCATGTTTCTGAAAGAAAGGTCTGGCTTCACGGTGAGGCCGGTGGCTGGA
TACCTGAGCCCACGAGACTTTCTGGCAGGACTGGCCTACAGAGTGTTCCACTGTACCCAGTACATCCGGCATGGCTCAGATCCCCTCTACACCCCAGAACCAGAC
ACATGCCATGAACTCTTGGGACATGTTCCACTACTTGCGGATCCTAAGTTTGCTCAGTTTTCACAAGAAATAGGTCTGGCGTCTCTGGGAGCATCAGATGAAGAT
GTTCAGAAACTAGCCACGTGCTATTTCTTCACAATCGAGTTTGGCCTTTGCAAGCAAGAAGGGCAACTGCGGGCATATGGAGCAGGACTCCTTTCCTCCATTGGA
Show »

Evidence summary 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	CNV	Linkage	Association	Expression	NGS de novo	NGS Mosaic	NGS Other	Low-Scale Gene Studies	Total
Score (No. of Studies)	No	0 (1)	0 (1)	0 (0)	2 (7)	0 (0)	0 (0)	0 (0)	0 (1)	0 (0)	4 (10)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 1

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Hussman, 2011_1	Discovery	Illumina Infinium Human 1 M beadship	597	- (-)			ASD	- -	- -

Case Control Based Association Studies: 0

Reference	Stage	Platform	ASD Cases						Normal Controls		Result
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Szatmari, 2007	Europe, North America	SNP microarray			ASD	1491	-	-	-	-	-	0

Linkage Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family	Individual
Total	Simplex	Multiplex	Control	Affected	Control	Total
No Matched Linkage Regions !

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 5

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Ramoz, 2006_1	USA, AGRE	Taqman SNP Assays On-Demand or Assays On-Design from Applied Biosystems, ABI PRISM 7900HT real-time PCR sequence detection instrument, SDS2.1 software	352	650 (21.69%)			ASD	- -	- -
Sacco, 2007_1	Italy, AGRE, SARC	TaqMan assay	371	371 (-)			AD	- -	- -
Schnetz-Boutaud, 2009_1	USA	Puregene, AppliedBiosystems, ABI 7900 Taqman	403	- (-)			ASD	- -	- -
Anderson, 2009_1	USA, AGRE	ABI 7900 Taqman system	403	- (-)			ASD	- (3-21)	- -
ASIAN
Yang SY, 2012_1	Korea	ColdenGate Assay	151	151 (13.90%)			ASD	- -	- -

Case Control Based Association Studies: 2

Reference	Source	Platfrom	ASD Cases					Normal Controls		Result
Reference	Source	Platfrom	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
Coon, 2005_1	USA, Italy	ABI 3700 DNA analyzer			ASD	13.53 -	82.56	95 (-)	- -
ASIAN
Egawa, 2012_1	Japanese	TaqMan assay			ASD	15.3±7.2 -	-	620 (48.87%)	38.2±10.6 -

Large Scale Expression Studies Top

Reference	Source	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

Reference	Source	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

NGS de novo Mutation Studies Top

Reference	Case Number	Family Number	de novo Number	Title
No matched NGS de novo Mutation Studies!

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family			Affected	Validation Method
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
Doan RN, 2016	-	-	-	-	ASD	-	-	-	-	-

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

AutismKB 2.0

Evidence Details for TPH2

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics