AutismKB 2.0

Evidence Details for TPH1


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Basic Information Top
Gene Symbol:TPH1 ( MGC119994,TPRH,TRPH )
Gene Full Name: tryptophan hydroxylase 1
Band: 11p15.1
Quick LinksEntrez 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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>TPH1|7166|protein
MIEDNKENKDHSLERGRASLIFSLKNEVGGLIKALKIFQEKHVNLLHIESRKSKRRNSEFEIFVDCDINREQLNDIFHLLKSHTNVLSVNLPDNFTLKEDGMETV
PWFPKKISDLDHCANRVLMYGSELDADHPGFKDNVYRKRRKYFADLAMNYKHGDPIPKVEFTEEEIKTWGTVFQELNKLYPTHACREYLKNLPLLSKYCGYREDN
IPQLEDVSNFLKERTGFSIRPVAGYLSPRDFLSGLAFRVFHCTQYVRHSSDPFYTPEPDTCHELLGHVPLLAEPSFAQFSQEIGLASLGASEEAVQKLATCYFFT
VEFGLCKQDGQLRVFGAGLLSSISELKHALSGHAKVKPFDPKITCKQECLITTFQDVYFVSESFEDAKEKMREFTKTIKRPFGVKYNPYTRSIQILKDTKSITSA
MNELQHDLDVVSDALAKVSRKPSI
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Evidence summary Top

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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