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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Dong S, 2014 787 787 42 De novo insertions and deletions of predominantly paternal origin are associated with autism spectru
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018