Evidence Details for TPH1
Basic Information Top
Gene Symbol: | TPH1 ( MGC119994,TPRH,TRPH ) |
---|---|
Gene Full Name: | tryptophan hydroxylase 1 |
Band: | 11p15.1 |
Quick Links | Entrez ID:7166; OMIM: 191060; Uniprot ID:TPH1_HUMAN; ENSEMBL ID: ENSG00000129167; HGNC ID: 12008 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>TPH1|7166|nucleotide
ATGATTGAAGACAATAAGGAGAACAAAGACCATTCCTTAGAAAGGGGAAGAGCAAGTCTCATTTTTTCCTTAAAGAATGAAGTTGGAGGACTTATAAAAGCCCTG
AAAATCTTTCAGGAGAAGCATGTGAATCTGTTACATATCGAGTCCCGAAAATCAAAAAGAAGAAACTCAGAATTTGAGATTTTTGTTGACTGTGACATCAACAGA
GAACAATTGAATGATATTTTTCATCTGCTGAAGTCTCATACCAATGTTCTCTCTGTGAATCTACCAGATAATTTTACTTTGAAGGAAGATGGTATGGAAACTGTT
CCTTGGTTTCCAAAGAAGATTTCTGACCTGGACCATTGTGCCAACAGAGTTCTGATGTATGGATCTGAACTAGATGCAGACCATCCTGGCTTCAAAGACAATGTC
TACCGTAAACGTCGAAAGTATTTTGCGGACTTGGCTATGAACTATAAACATGGAGACCCCATTCCAAAGGTTGAATTCACTGAAGAGGAGATTAAGACCTGGGGA
ACCGTATTCCAAGAGCTCAACAAACTCTACCCAACCCATGCTTGCAGAGAGTATCTCAAAAACTTACCTTTGCTTTCTAAATATTGTGGATATCGGGAGGATAAT
ATCCCACAATTGGAAGATGTCTCCAACTTTTTAAAAGAGCGTACAGGTTTTTCCATCCGTCCTGTGGCTGGTTACTTATCACCAAGAGATTTCTTATCAGGTTTA
GCCTTTCGAGTTTTTCACTGCACTCAATATGTGAGACACAGTTCAGATCCCTTCTATACCCCAGAGCCAGATACCTGCCATGAACTCTTAGGTCATGTCCCGCTT
TTGGCTGAACCTAGTTTTGCCCAATTCTCCCAAGAAATTGGCTTGGCTTCTCTTGGCGCTTCAGAGGAGGCTGTTCAAAAACTGGCAACGTGCTACTTTTTCACT
GTGGAGTTTGGTCTATGTAAACAAGATGGACAGCTAAGAGTCTTTGGTGCTGGCTTACTTTCTTCTATCAGTGAACTCAAACATGCACTTTCTGGACATGCCAAA
GTAAAGCCCTTTGATCCCAAGATTACCTGCAAACAGGAATGTCTTATCACAACTTTTCAAGATGTCTACTTTGTATCTGAAAGTTTTGAAGATGCAAAGGAGAAG
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ATGATTGAAGACAATAAGGAGAACAAAGACCATTCCTTAGAAAGGGGAAGAGCAAGTCTCATTTTTTCCTTAAAGAATGAAGTTGGAGGACTTATAAAAGCCCTG
AAAATCTTTCAGGAGAAGCATGTGAATCTGTTACATATCGAGTCCCGAAAATCAAAAAGAAGAAACTCAGAATTTGAGATTTTTGTTGACTGTGACATCAACAGA
GAACAATTGAATGATATTTTTCATCTGCTGAAGTCTCATACCAATGTTCTCTCTGTGAATCTACCAGATAATTTTACTTTGAAGGAAGATGGTATGGAAACTGTT
CCTTGGTTTCCAAAGAAGATTTCTGACCTGGACCATTGTGCCAACAGAGTTCTGATGTATGGATCTGAACTAGATGCAGACCATCCTGGCTTCAAAGACAATGTC
TACCGTAAACGTCGAAAGTATTTTGCGGACTTGGCTATGAACTATAAACATGGAGACCCCATTCCAAAGGTTGAATTCACTGAAGAGGAGATTAAGACCTGGGGA
ACCGTATTCCAAGAGCTCAACAAACTCTACCCAACCCATGCTTGCAGAGAGTATCTCAAAAACTTACCTTTGCTTTCTAAATATTGTGGATATCGGGAGGATAAT
ATCCCACAATTGGAAGATGTCTCCAACTTTTTAAAAGAGCGTACAGGTTTTTCCATCCGTCCTGTGGCTGGTTACTTATCACCAAGAGATTTCTTATCAGGTTTA
GCCTTTCGAGTTTTTCACTGCACTCAATATGTGAGACACAGTTCAGATCCCTTCTATACCCCAGAGCCAGATACCTGCCATGAACTCTTAGGTCATGTCCCGCTT
TTGGCTGAACCTAGTTTTGCCCAATTCTCCCAAGAAATTGGCTTGGCTTCTCTTGGCGCTTCAGAGGAGGCTGTTCAAAAACTGGCAACGTGCTACTTTTTCACT
GTGGAGTTTGGTCTATGTAAACAAGATGGACAGCTAAGAGTCTTTGGTGCTGGCTTACTTTCTTCTATCAGTGAACTCAAACATGCACTTTCTGGACATGCCAAA
GTAAAGCCCTTTGATCCCAAGATTACCTGCAAACAGGAATGTCTTATCACAACTTTTCAAGATGTCTACTTTGTATCTGAAAGTTTTGAAGATGCAAAGGAGAAG
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>TPH1|7166|protein
MIEDNKENKDHSLERGRASLIFSLKNEVGGLIKALKIFQEKHVNLLHIESRKSKRRNSEFEIFVDCDINREQLNDIFHLLKSHTNVLSVNLPDNFTLKEDGMETV
PWFPKKISDLDHCANRVLMYGSELDADHPGFKDNVYRKRRKYFADLAMNYKHGDPIPKVEFTEEEIKTWGTVFQELNKLYPTHACREYLKNLPLLSKYCGYREDN
IPQLEDVSNFLKERTGFSIRPVAGYLSPRDFLSGLAFRVFHCTQYVRHSSDPFYTPEPDTCHELLGHVPLLAEPSFAQFSQEIGLASLGASEEAVQKLATCYFFT
VEFGLCKQDGQLRVFGAGLLSSISELKHALSGHAKVKPFDPKITCKQECLITTFQDVYFVSESFEDAKEKMREFTKTIKRPFGVKYNPYTRSIQILKDTKSITSA
MNELQHDLDVVSDALAKVSRKPSI
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MIEDNKENKDHSLERGRASLIFSLKNEVGGLIKALKIFQEKHVNLLHIESRKSKRRNSEFEIFVDCDINREQLNDIFHLLKSHTNVLSVNLPDNFTLKEDGMETV
PWFPKKISDLDHCANRVLMYGSELDADHPGFKDNVYRKRRKYFADLAMNYKHGDPIPKVEFTEEEIKTWGTVFQELNKLYPTHACREYLKNLPLLSKYCGYREDN
IPQLEDVSNFLKERTGFSIRPVAGYLSPRDFLSGLAFRVFHCTQYVRHSSDPFYTPEPDTCHELLGHVPLLAEPSFAQFSQEIGLASLGASEEAVQKLATCYFFT
VEFGLCKQDGQLRVFGAGLLSSISELKHALSGHAKVKPFDPKITCKQECLITTFQDVYFVSESFEDAKEKMREFTKTIKRPFGVKYNPYTRSIQILKDTKSITSA
MNELQHDLDVVSDALAKVSRKPSI
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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 (0) | 0 (0) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 12 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 2
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 | - - |
- - | |||
Coutinho, 2007_1 | Portugal | the Amplifluor System or PCR-RFLP | 186 | 186 (17.24%) | AD | 6.8 (2-18) |
- - |
Case Control Based Association Studies: 0
Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
No Evidence. |
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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