AutismKB 2.0

Evidence Details 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; 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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>TPH2|121278|protein
MQPAMMMFSSKYWARRGFSLDSAVPEEHQLLGSSTLNKPNSGKNDDKGNKGSSKREAATESGKTAVVFSLKNEVGGLVKALRLFQEKRVNMVHIESRKSRRRSSE
VEIFVDCECGKTEFNELIQLLKFQTTIVTLNPPENIWTEEEELEDVPWFPRKISELDKCSHRVLMYGSELDADHPGFKDNVYRQRRKYFVDVAMGYKYGQPIPRV
EYTEEETKTWGVVFRELSKLYPTHACREYLKNFPLLTKYCGYREDNVPQLEDVSMFLKERSGFTVRPVAGYLSPRDFLAGLAYRVFHCTQYIRHGSDPLYTPEPD
TCHELLGHVPLLADPKFAQFSQEIGLASLGASDEDVQKLATCYFFTIEFGLCKQEGQLRAYGAGLLSSIGELKHALSDKACVKAFDPKTTCLQECLITTFQEAYF
VSESFEEAKEKMRDFAKSITRPFSVYFNPYTQSIEILKDTRSIENVVQDLRSDLNTVCDALNKMNQYLGI
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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 (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 microarrayASD 1491 - - - - - 0
Linkage Studies Top