Evidence Details for TPH2
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
>TPH2|121278|nucleotide
ATGCAGCCAGCAATGATGATGTTTTCCAGTAAATACTGGGCACGGAGAGGGTTTTCCCTGGATTCAGCAGTGCCCGAAGAGCATCAGCTACTTGGCAGCTCAACA
CTAAATAAACCTAACTCTGGCAAAAATGACGACAAAGGCAACAAGGGAAGCAGCAAACGTGAAGCTGCTACCGAAAGTGGCAAGACAGCAGTTGTTTTCTCCTTG
AAGAATGAAGTTGGTGGATTGGTAAAAGCACTGAGGCTCTTTCAGGAAAAACGTGTCAACATGGTTCATATTGAATCCAGGAAATCTCGGCGAAGAAGTTCTGAG
GTTGAAATCTTTGTGGACTGTGAGTGTGGGAAAACAGAATTCAATGAGCTCATTCAGTTGCTGAAATTTCAAACCACTATTGTGACGCTGAATCCTCCAGAGAAC
ATTTGGACAGAGGAAGAAGAGCTAGAGGATGTGCCCTGGTTCCCTCGGAAGATCTCTGAGTTAGACAAATGCTCTCACAGAGTTCTCATGTATGGTTCTGAGCTT
GATGCTGACCACCCAGGATTTAAGGACAATGTCTATCGACAGAGAAGAAAGTATTTTGTGGATGTGGCCATGGGTTATAAATATGGTCAGCCCATTCCCAGGGTG
GAGTATACTGAAGAAGAAACTAAAACTTGGGGTGTTGTATTCCGGGAGCTCTCCAAACTCTATCCCACTCATGCTTGCCGAGAGTATTTGAAAAACTTCCCTCTG
CTGACTAAATACTGTGGCTACAGAGAGGACAATGTGCCTCAACTCGAAGATGTCTCCATGTTTCTGAAAGAAAGGTCTGGCTTCACGGTGAGGCCGGTGGCTGGA
TACCTGAGCCCACGAGACTTTCTGGCAGGACTGGCCTACAGAGTGTTCCACTGTACCCAGTACATCCGGCATGGCTCAGATCCCCTCTACACCCCAGAACCAGAC
ACATGCCATGAACTCTTGGGACATGTTCCACTACTTGCGGATCCTAAGTTTGCTCAGTTTTCACAAGAAATAGGTCTGGCGTCTCTGGGAGCATCAGATGAAGAT
GTTCAGAAACTAGCCACGTGCTATTTCTTCACAATCGAGTTTGGCCTTTGCAAGCAAGAAGGGCAACTGCGGGCATATGGAGCAGGACTCCTTTCCTCCATTGGA
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ATGCAGCCAGCAATGATGATGTTTTCCAGTAAATACTGGGCACGGAGAGGGTTTTCCCTGGATTCAGCAGTGCCCGAAGAGCATCAGCTACTTGGCAGCTCAACA
CTAAATAAACCTAACTCTGGCAAAAATGACGACAAAGGCAACAAGGGAAGCAGCAAACGTGAAGCTGCTACCGAAAGTGGCAAGACAGCAGTTGTTTTCTCCTTG
AAGAATGAAGTTGGTGGATTGGTAAAAGCACTGAGGCTCTTTCAGGAAAAACGTGTCAACATGGTTCATATTGAATCCAGGAAATCTCGGCGAAGAAGTTCTGAG
GTTGAAATCTTTGTGGACTGTGAGTGTGGGAAAACAGAATTCAATGAGCTCATTCAGTTGCTGAAATTTCAAACCACTATTGTGACGCTGAATCCTCCAGAGAAC
ATTTGGACAGAGGAAGAAGAGCTAGAGGATGTGCCCTGGTTCCCTCGGAAGATCTCTGAGTTAGACAAATGCTCTCACAGAGTTCTCATGTATGGTTCTGAGCTT
GATGCTGACCACCCAGGATTTAAGGACAATGTCTATCGACAGAGAAGAAAGTATTTTGTGGATGTGGCCATGGGTTATAAATATGGTCAGCCCATTCCCAGGGTG
GAGTATACTGAAGAAGAAACTAAAACTTGGGGTGTTGTATTCCGGGAGCTCTCCAAACTCTATCCCACTCATGCTTGCCGAGAGTATTTGAAAAACTTCCCTCTG
CTGACTAAATACTGTGGCTACAGAGAGGACAATGTGCCTCAACTCGAAGATGTCTCCATGTTTCTGAAAGAAAGGTCTGGCTTCACGGTGAGGCCGGTGGCTGGA
TACCTGAGCCCACGAGACTTTCTGGCAGGACTGGCCTACAGAGTGTTCCACTGTACCCAGTACATCCGGCATGGCTCAGATCCCCTCTACACCCCAGAACCAGAC
ACATGCCATGAACTCTTGGGACATGTTCCACTACTTGCGGATCCTAAGTTTGCTCAGTTTTCACAAGAAATAGGTCTGGCGTCTCTGGGAGCATCAGATGAAGAT
GTTCAGAAACTAGCCACGTGCTATTTCTTCACAATCGAGTTTGGCCTTTGCAAGCAAGAAGGGCAACTGCGGGCATATGGAGCAGGACTCCTTTCCTCCATTGGA
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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 | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
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 | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
No Evidence. |
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Szatmari, 2007 | Europe, North America | SNP microarray | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 5
Reference | Source | Platform | #Families | Affecteds | Result | |||||
---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
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 | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
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
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
Low Scale Gene Studies Top
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