AutismKB 2.0

Evidence Details for AMZ1


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Basic Information Top
Gene Symbol:AMZ1 ( KIAA1950 )
Gene Full Name: archaelysin family metallopeptidase 1
Band: 7p22.3
Quick LinksEntrez ID:155185; OMIM: NA; Uniprot ID:AMZ1_HUMAN; ENSEMBL ID: ENSG00000174945; HGNC ID: 22231
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AMZ1|155185|nucleotide
ATGCTGCAGTGTAGACCCGCACAGGAGTTCAGCTTCGGGCCCCGGGCCTTGAAGGACGCTCTGGTCTCCACTGACGCAGCCCTGCAGCAGCTGTATGTGTCCGCC
TTCTCCCCTGCCGAGCGGCTCTTCCTGGCCGAGGCCTACAACCCGCAGAGGACGCTCTTCTGCACCCTGCTCATCCGCACGGGCTTCGACTGGCTCCTGAGCCGA
CCCGAGGCTCCCGAGGACTTCCAGACCTTCCACGCCTCCCTGCAGCACCGGAAGCCCCGCCTGGCTCGGAAGCACATCTACCTACAGCCGATAGACCTGAGCGAG
GAGCCGGTGGGAAGCTCCCTGCTGCACCAGCTGTGCAGCTGCACAGAGGCCTTCTTCCTGGGCCTGCGCGTCAAGTGCCTGCCGTCGGTGGCAGCCGCGTCCATC
CGCTGCTCCTCGCGGCCCAGCCGGGACTCTGACAGGCTCCAGCTCCACACAGACGGCATCCTGTCCTTCTTGAAGAACAACAAGCCAGGGGACGCGCTGTGTGTG
CTGGGCCTCACACTGTCTGACCTGTACCCCCATGAGGCCTGGAGCTTCACCTTCAGCAAGTTCCTTCCAGGGCACGAAGTGGGCGTCTGCAGCTTCGCCCGGTTC
TCAGGGGAATTCCCGAAGTCGGGGCCCAGCGCCCCTGATCTGGCCCTGGTAGAGGCAGCAGCAGACGGCCCCGAGGCCCCCCTGCAGGACAGGGGCTGGGCCCTG
TGCTTCAGTGCCCTGGGGATGGTTCAGTGCTGCAAGGTCACGTGCCACGAGCTCTGCCACCTTCTGGGCCTGGGGAACTGCCGCTGGCTCCGCTGCCTCATGCAG
GGTGCGCTCAGCCTGGACGAGGCCCTGCGGCGGCCCCTGGACCTCTGTCCCATCTGCCTGAGGAAGCTGCAGCATGTCCTGGGTTTCAGGCTCATCGAGAGGTAC
CAGAGACTCTACACCTGGACTCAGGCGGTGGTGGGGACGTGGCCCAGCCAGGAGGCGGGGGAGCCGTCAGTGTGGGAGGACACCCCGCCTGCCAGCGCCGACTCG
GGCATGTGCTGTGAGAGTGACTCGGAGCCCGGCACCAGTGTGTCGGAGCCCCTCACCCCTGATGCCGGGAGTCACACCTTCGCCTCAGGGCCAGAGGAAGGGCTG
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>AMZ1|155185|protein
MLQCRPAQEFSFGPRALKDALVSTDAALQQLYVSAFSPAERLFLAEAYNPQRTLFCTLLIRTGFDWLLSRPEAPEDFQTFHASLQHRKPRLARKHIYLQPIDLSE
EPVGSSLLHQLCSCTEAFFLGLRVKCLPSVAAASIRCSSRPSRDSDRLQLHTDGILSFLKNNKPGDALCVLGLTLSDLYPHEAWSFTFSKFLPGHEVGVCSFARF
SGEFPKSGPSAPDLALVEAAADGPEAPLQDRGWALCFSALGMVQCCKVTCHELCHLLGLGNCRWLRCLMQGALSLDEALRRPLDLCPICLRKLQHVLGFRLIERY
QRLYTWTQAVVGTWPSQEAGEPSVWEDTPPASADSGMCCESDSEPGTSVSEPLTPDAGSHTFASGPEEGLSYLAASEAPLPPGGPAEAIKEHERWLAMCIQALQR
EVAEEDLVQVDRAVDALDRWEMFTGQLPATRQDPPSSRDSVGLRKVLGDKFSSLRRKLSARKLARAESAPRPWDGEES
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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) 1 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Yu, 2002 USA STS mappingPDD 105 - 105 - - 668 668
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top