AutismKB 2.0

Evidence Details for ZMAT3


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Basic Information Top
Gene Symbol:ZMAT3 ( FLJ12296,FLJ31683,MGC10613,PAG608,WIG-1,WIG1 )
Gene Full Name: zinc finger, matrin-type 3
Band: 3q26.32
Quick LinksEntrez ID:64393; OMIM: 606452; Uniprot ID:ZMAT3_HUMAN; ENSEMBL ID: ENSG00000172667; HGNC ID: 29983
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZMAT3|64393|nucleotide
ATGATCCTCTTGCAACACGCCGTGCTTCCTCCACCTAAGCAGCCCTCACCCTCGCCTCCTATGTCAGTGGCCACCAGGTCTACAGGAACCTTGCAGCTTCCACCA
CAGAAGCCTTTTGGGCAGGAGGCTTCCTTGCCTCTTGCAGGGGAAGAAGAGTTATCGAAGGGAGGGGAGCAAGACTGTGCCCTGGAGGAGCTATGTAAGCCCCTG
TACTGCAAACTCTGCAATGTCACCTTGAACTCTGCACAGCAAGCCCAGGCTCATTATCAGGGTAAAAATCATGGTAAGAAACTCCGAAATTACTATGCAGCAAAT
AGCTGTCCTCCTCCTGCTAGAATGAGCAATGTGGTCGAGCCTGCAGCTACTCCAGTTGTTCCAGTCCCTCCGCAGATGGGCTCCTTTAAGCCAGGAGGCCGAGTG
ATCCTGGCCACGGAGAATGATTACTGTAAGCTCTGTGATGCCTCCTTCAGTTCCCCAGCTGTGGCTCAGGCTCACTATCAAGGGAAGAATCATGCCAAGAGGCTG
CGGCTGGCGGAAGCTCAGAGTAACTCATTCTCGGAATCCTCAGAGCTGGGTCAACGGCGGGCCAGGAAAGAAGGGAATGAGTTTAAGATGATGCCTAACAGGAGA
AATATGTATACAGTACAGAATAATTCAGCAGGTCCTTACTTCAATCCCCGCTCTCGGCAGAGAATTCCACGTGATCTGGCCATGTGTGTTACTCCAAGTGGCCAG
TTTTACTGCTCAATGTGTAATGTTGGAGCTGGCGAAGAGATGGAATTCCGGCAGCATTTAGAGAGCAAGCAACATAAGAGCAAGGTGTCTGAACAGCGGTACAGG
AATGAGATGGAGAATCTGGGATATGTATAG


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>ZMAT3|64393|protein
MILLQHAVLPPPKQPSPSPPMSVATRSTGTLQLPPQKPFGQEASLPLAGEEELSKGGEQDCALEELCKPLYCKLCNVTLNSAQQAQAHYQGKNHGKKLRNYYAAN
SCPPPARMSNVVEPAATPVVPVPPQMGSFKPGGRVILATENDYCKLCDASFSSPAVAQAHYQGKNHAKRLRLAEAQSNSFSESSELGQRRARKEGNEFKMMPNRR
NMYTVQNNSAGPYFNPRSRQRIPRDLAMCVTPSGQFYCSMCNVGAGEEMEFRQHLESKQHKSKVSEQRYRNEMENLGYV


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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 (2) 0 (0) 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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Auranen, 2002 Finland microsatellite-based genomic screenautism 19 - 19 - 54 - -
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
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