AutismKB 2.0

Evidence Details for TH


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Basic Information Top
Gene Symbol:TH ( DYT14,DYT5b,TYH )
Gene Full Name: tyrosine hydroxylase
Band: 11p15.5
Quick LinksEntrez ID:7054; OMIM: 191290; Uniprot ID:TY3H_HUMAN; ENSEMBL ID: ENSG00000180176; HGNC ID: 11782
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TH|7054|nucleotide
ATGCCCACCCCCGACGCCACCACGCCACAGGCCAAGGGCTTCCGCAGGGCCGTGTCTGAGCTGGACGCCAAGCAGGCAGAGGCCATCATGTCCCCGCGGTTCATT
GGGCGCAGGCAGAGCCTCATCGAGGACGCCCGCAAGGAGCGGGAGGCGGCGGTGGCAGCAGCGGCCGCTGCAGTCCCCTCGGAGCCCGGGGACCCCCTGGAGGCT
GTGGCCTTTGAGGAGAAGGAGGGGAAGGCCGTGCTAAACCTGCTCTTCTCCCCGAGGGCCACCAAGCCCTCGGCGCTGTCCCGAGCTGTGAAGGTGTTTGAGACG
TTTGAAGCCAAAATCCACCATCTAGAGACCCGGCCCGCCCAGAGGCCGCGAGCTGGGGGCCCCCACCTGGAGTACTTCGTGCGCCTCGAGGTGCGCCGAGGGGAC
CTGGCCGCCCTGCTCAGTGGTGTGCGCCAGGTGTCAGAGGACGTGCGCAGCCCCGCGGGGCCCAAGGTCCCCTGGTTCCCAAGAAAAGTGTCAGAGCTGGACAAG
TGTCATCACCTGGTCACCAAGTTCGACCCTGACCTGGACTTGGACCACCCGGGCTTCTCGGACCAGGTGTACCGCCAGCGCAGGAAGCTGATTGCTGAGATCGCC
TTCCAGTACAGGCACGGCGACCCGATTCCCCGTGTGGAGTACACCGCCGAGGAGATTGCCACCTGGAAGGAGGTCTACACCACGCTGAAGGGCCTCTACGCCACG
CACGCCTGCGGGGAGCACCTGGAGGCCTTTGCTTTGCTGGAGCGCTTCAGCGGCTACCGGGAAGACAATATCCCCCAGCTGGAGGACGTCTCCCGCTTCCTGAAG
GAGCGCACGGGCTTCCAGCTGCGGCCTGTGGCCGGCCTGCTGTCCGCCCGGGACTTCCTGGCCAGCCTGGCCTTCCGCGTGTTCCAGTGCACCCAGTATATCCGC
CACGCGTCCTCGCCCATGCACTCCCCTGAGCCGGACTGCTGCCACGAGCTGCTGGGGCACGTGCCCATGCTGGCCGACCGCACCTTCGCGCAGTTCTCGCAGGAC
ATTGGCCTGGCGTCCCTGGGGGCCTCGGATGAGGAAATTGAGAAGCTGTCCACGCTGTACTGGTTCACGGTGGAGTTCGGGCTGTGTAAGCAGAACGGGGAGGTG
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>TH|7054|protein
MPTPDATTPQAKGFRRAVSELDAKQAEAIMSPRFIGRRQSLIEDARKEREAAVAAAAAAVPSEPGDPLEAVAFEEKEGKAVLNLLFSPRATKPSALSRAVKVFET
FEAKIHHLETRPAQRPRAGGPHLEYFVRLEVRRGDLAALLSGVRQVSEDVRSPAGPKVPWFPRKVSELDKCHHLVTKFDPDLDLDHPGFSDQVYRQRRKLIAEIA
FQYRHGDPIPRVEYTAEEIATWKEVYTTLKGLYATHACGEHLEAFALLERFSGYREDNIPQLEDVSRFLKERTGFQLRPVAGLLSARDFLASLAFRVFQCTQYIR
HASSPMHSPEPDCCHELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEKLSTLYWFTVEFGLCKQNGEVKAYGAGLLSSYGELLHCLSEEPEIRAFDPEAAAVQ
PYQDQTYQSVYFVSESFSDAKDKLRSYASRIQRPFSVKFDPYTLAIDVLDSPQAVRRSLEGVQDELDTLAHALSAIG
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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) 0 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top