AutismKB 2.0

Evidence Details for AZGP1


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Basic Information Top
Gene Symbol:AZGP1 ( ZA2G,ZAG )
Gene Full Name: alpha-2-glycoprotein 1, zinc-binding
Band: 7q22.1
Quick LinksEntrez ID:563; OMIM: 194460; Uniprot ID:ZA2G_HUMAN; ENSEMBL ID: ENSG00000160862; HGNC ID: 910
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AZGP1|563|nucleotide
ATGGTAAGAATGGTGCCTGTCCTGCTGTCTCTGCTGCTGCTTCTGGGTCCTGCTGTCCCCCAGGAGAACCAAGATGGTCGTTACTCTCTGACCTATATCTACACT
GGGCTGTCCAAGCATGTTGAAGACGTCCCCGCGTTTCAGGCCCTTGGCTCACTCAATGACCTCCAGTTCTTTAGATACAACAGTAAAGACAGGAAGTCTCAGCCC
ATGGGACTCTGGAGACAGGTGGAAGGAATGGAGGATTGGAAGCAGGACAGCCAACTTCAGAAGGCCAGGGAGGACATCTTTATGGAGACCCTGAAAGACATCGTG
GAGTATTACAACGACAGTAACGGGTCTCACGTATTGCAGGGAAGGTTTGGTTGTGAGATCGAGAATAACAGAAGCAGCGGAGCATTCTGGAAATATTACTATGAT
GGAAAGGACTACATTGAATTCAACAAAGAAATCCCAGCCTGGGTCCCCTTCGACCCAGCAGCCCAGATAACCAAGCAGAAGTGGGAGGCAGAACCAGTCTACGTG
CAGCGGGCCAAGGCTTACCTGGAGGAGGAGTGCCCTGCGACTCTGCGGAAATACCTGAAATACAGCAAAAATATCCTGGACCGGCAAGATCCTCCCTCTGTGGTG
GTCACCAGCCACCAGGCCCCAGGAGAAAAGAAGAAACTGAAGTGCCTGGCCTACGACTTCTACCCAGGGAAAATTGATGTGCACTGGACTCGGGCCGGCGAGGTG
CAGGAGCCTGAGTTACGGGGAGATGTTCTTCACAATGGAAATGGCACTTACCAGTCCTGGGTGGTGGTGGCAGTGCCCCCGCAGGACACAGCCCCCTACTCCTGC
CACGTGCAGCACAGCAGCCTGGCCCAGCCCCTCGTGGTGCCCTGGGAGGCCAGCTAG


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>AZGP1|563|protein
MVRMVPVLLSLLLLLGPAVPQENQDGRYSLTYIYTGLSKHVEDVPAFQALGSLNDLQFFRYNSKDRKSQPMGLWRQVEGMEDWKQDSQLQKAREDIFMETLKDIV
EYYNDSNGSHVLQGRFGCEIENNRSSGAFWKYYYDGKDYIEFNKEIPAWVPFDPAAQITKQKWEAEPVYVQRAKAYLEEECPATLRKYLKYSKNILDRQDPPSVV
VTSHQAPGEKKKLKCLAYDFYPGKIDVHWTRAGEVQEPELRGDVLHNGNGTYQSWVVVAVPPQDTAPYSCHVQHSSLAQPLVVPWEAS


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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) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
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
C Yuen RK, 2017 1625 - 237 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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