AutismKB 2.0

Evidence Details for GCH1


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Basic Information Top
Gene Symbol:GCH1 ( DYT14,DYT5,DYT5a,GCH,GTP-CH-1,GTPCH1,HPABH4B )
Gene Full Name: GTP cyclohydrolase 1
Band: 14q22.2
Quick LinksEntrez ID:2643; OMIM: 600225; Uniprot ID:GCH1_HUMAN; ENSEMBL ID: ENSG00000131979; HGNC ID: 4193
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GCH1|2643|nucleotide
ATGGAGAAGGGCCCTGTGCGGGCACCGGCGGAGAAGCCGCGGGGCGCCAGGTGCAGCAATGGGTTCCCCGAGCGGGATCCGCCGCGGCCCGGGCCCAGCAGGCCG
GCGGAGAAGCCCCCGCGGCCCGAGGCCAAGAGCGCGCAGCCCGCGGACGGCTGGAAGGGCGAGCGGCCCCGCAGCGAGGAGGATAACGAGCTGAACCTCCCTAAC
CTGGCAGCCGCCTACTCGTCCATCCTGAGCTCGCTGGGCGAGAACCCCCAGCGGCAAGGGCTGCTCAAGACGCCCTGGAGGGCGGCCTCGGCCATGCAGTTCTTC
ACCAAGGGCTACCAGGAGACCATCTCAGATGTCCTAAACGATGCTATATTTGATGAAGATCATGATGAGATGGTGATTGTGAAGGACATAGACATGTTTTCCATG
TGTGAGCATCACTTGGTTCCATTTGTTGGAAAGGTCCATATTGGTTATCTTCCTAACAAGCAAGTCCTTGGCCTCAGCAAACTTGCGAGGATTGTAGAAATCTAT
AGTAGAAGACTACAAGTTCAGGAGCGCCTTACAAAACAAATTGCTGTAGCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAACACAC
ATGTGTATGGTAATGCGAGGTGTACAGAAAATGAACAGCAAAACTGTGACCAGCACAATGTTGGGTGTGTTCCGGGAGGATCCAAAGACTCGGGAAGAGTTCCTG
ACTCTCATTAGGAGCTGA



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>GCH1|2643|protein
MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRSEEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAASAMQFF
TKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPAGVGVVVEATH
MCMVMRGVQKMNSKTVTSTMLGVFREDPKTREEFLTLIRS


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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) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top