AutismKB 2.0

Evidence Details for ACHE


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Basic Information Top
Gene Symbol:ACHE ( ARACHE,N-ACHE,YT )
Gene Full Name: acetylcholinesterase
Band: 7q22.1
Quick LinksEntrez ID:43; OMIM: 100740; Uniprot ID:ACES_HUMAN; ENSEMBL ID: ENSG00000087085; HGNC ID: 108
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ACHE|43|nucleotide
ATGAGGCCCCCGCAGTGTCTGCTGCACACGCCTTCCCTGGCTTCCCCACTCCTTCTCCTCCTCCTCTGGCTCCTGGGTGGAGGAGTGGGGGCTGAGGGCCGGGAG
GATGCAGAGCTGCTGGTGACGGTGCGTGGGGGCCGGCTGCGGGGCATTCGCCTGAAGACCCCCGGGGGCCCTGTCTCTGCTTTCCTGGGCATCCCCTTTGCGGAG
CCACCCATGGGACCCCGTCGCTTTCTGCCACCGGAGCCCAAGCAGCCTTGGTCAGGGGTGGTAGACGCTACAACCTTCCAGAGTGTCTGCTACCAATATGTGGAC
ACCCTATACCCAGGTTTTGAGGGCACCGAGATGTGGAACCCCAACCGTGAGCTGAGCGAGGACTGCCTGTACCTCAACGTGTGGACACCATACCCCCGGCCTACA
TCCCCCACCCCTGTCCTCGTCTGGATCTATGGGGGTGGCTTCTACAGTGGGGCCTCCTCCTTGGACGTGTACGATGGCCGCTTCTTGGTACAGGCCGAGAGGACT
GTGCTGGTGTCCATGAACTACCGGGTGGGAGCCTTTGGCTTCCTGGCCCTGCCGGGGAGCCGAGAGGCCCCGGGCAATGTGGGTCTCCTGGATCAGAGGCTGGCC
CTGCAGTGGGTGCAGGAGAACGTGGCAGCCTTCGGGGGTGACCCGACATCAGTGACGCTGTTTGGGGAGAGCGCGGGAGCCGCCTCGGTGGGCATGCACCTGCTG
TCCCCGCCCAGCCGGGGCCTGTTCCACAGGGCCGTGCTGCAGAGCGGTGCCCCCAATGGACCCTGGGCCACGGTGGGCATGGGAGAGGCCCGTCGCAGGGCCACG
CAGCTGGCCCACCTTGTGGGCTGTCCTCCAGGCGGCACTGGTGGGAATGACACAGAGCTGGTAGCCTGCCTTCGGACACGACCAGCGCAGGTCCTGGTGAACCAC
GAATGGCACGTGCTGCCTCAAGAAAGCGTCTTCCGGTTCTCCTTCGTGCCTGTGGTAGATGGAGACTTCCTCAGTGACACCCCAGAGGCCCTCATCAACGCGGGA
GACTTCCACGGCCTGCAGGTGCTGGTGGGTGTGGTGAAGGATGAGGGCTCGTATTTTCTGGTTTACGGGGCCCCAGGCTTCAGCAAAGACAACGAGTCTCTCATC
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>ACHE|43|protein
MRPPQCLLHTPSLASPLLLLLLWLLGGGVGAEGREDAELLVTVRGGRLRGIRLKTPGGPVSAFLGIPFAEPPMGPRRFLPPEPKQPWSGVVDATTFQSVCYQYVD
TLYPGFEGTEMWNPNRELSEDCLYLNVWTPYPRPTSPTPVLVWIYGGGFYSGASSLDVYDGRFLVQAERTVLVSMNYRVGAFGFLALPGSREAPGNVGLLDQRLA
LQWVQENVAAFGGDPTSVTLFGESAGAASVGMHLLSPPSRGLFHRAVLQSGAPNGPWATVGMGEARRRATQLAHLVGCPPGGTGGNDTELVACLRTRPAQVLVNH
EWHVLPQESVFRFSFVPVVDGDFLSDTPEALINAGDFHGLQVLVGVVKDEGSYFLVYGAPGFSKDNESLISRAEFLAGVRVGVPQVSDLAAEAVVLHYTDWLHPE
DPARLREALSDVVGDHNVVCPVAQLAGRLAAQGARVYAYVFEHRASTLSWPLWMGVPHGYEIEFIFGIPLDPSRNYTAEEKIFAQRLMRYWANFARTGDPNEPRD
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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) 1 (1) 0 (0) 1 (1) 2 (2) 0 (0) 0 (0) 0 (0) 23 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top