AutismKB 2.0

Evidence Details for ZNF747


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Basic Information Top
Gene Symbol:ZNF747 ( MGC2474 )
Gene Full Name: zinc finger protein 747
Band: 16p11.2
Quick LinksEntrez ID:65988; OMIM: NA; Uniprot ID:ZN747_HUMAN; ENSEMBL ID: ENSG00000169955; HGNC ID: 28350
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF747|65988|nucleotide
ATGACCGATCCGTCGCTGGGGCTGACAGTCCCCATGGCGCCGCCTCTGGCCCCGCTCCCTCCCCGGGACCCAAACGGGGCGGGATCCGAGTGGAGAAAGCCCGGG
GCCGTGAGCTTCGCCGACGTGGCCGTGTACTTCTCCCGGGAGGAGTGGGGCTGCCTGCGGCCCGCGCAGAGGGCCCTGTACCGGGACGTGATGCGGGAGACCTAC
GGCCACCTGGGCGCGCTCGGTGAGAGCCCCACCTGCTTGCCTGGGCCCTGCGCCTCCACAGGCCCTGCCGCGCCTCTGGGAGCTGCGTGTGGAGTTGGGGGCCCC
GGGGCCGGGCAGGCGGCCTCCTCGCAGCGTGGGGTTTGCGTTCTTCTCCCCCAGGAGTCGGAGGCAGCAAGCCGGCGCTCATCTCCTGGGTGGAGGAGAAGGCCG
AACTGTGGGATCCGGCTGCCCAGGATCCGGAGGTGGCGAAGTGTCCGACAGAAGCGGACCCAGCAGATTCCAGAAACAAGGAAGAGGAAAGACAAAGGGAAGGGA
CGGGAGCCCTGGAGAAGCCCGACCCTGTGGCCGCCGGGTCTCCTGGGCTGA





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>ZNF747|65988|protein
MTDPSLGLTVPMAPPLAPLPPRDPNGAGSEWRKPGAVSFADVAVYFSREEWGCLRPAQRALYRDVMRETYGHLGALGESPTCLPGPCASTGPAAPLGAACGVGGP
GAGQAASSQRGVCVLLPQESEAASRRSSPGWRRRPNCGIRLPRIRRWRSVRQKRTQQIPETRKRKDKGKGREPWRSPTLWPPGLLG



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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) 2 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (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
Finelli, 2004 - FISHautistic feature - - - - 2 - 2
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top
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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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