AutismKB 2.0

Evidence Details for ZNF333


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Basic Information Top
Gene Symbol:ZNF333 ( KIAA1806 )
Gene Full Name: zinc finger protein 333
Band: 19p13.12
Quick LinksEntrez ID:84449; OMIM: 611811; Uniprot ID:ZN333_HUMAN; ENSEMBL ID: ENSG00000160961; HGNC ID: 15624
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF333|84449|nucleotide
ATGGAATCCGTCACCTTTGAGGATGTGGCCGTGGAGTTCATCCAGGAGTGGGCATTGCTGGACAGCGCACGGAGGAGCCTGTGCAAATACAGGATGCTTGACCAG
TGCAGGACCCTGGCCTCCAGGGGAACTCCACCATGCAAACCCAGTTGTGTCTCCCAGCTGGGGCAAAGAGCAGAGCCAAAGGCAACAGAACGAGGGATTCTCCGT
GCCACAGGTGTTGCCTGGGAATCTCAACTTAAACCCGAAGAGTTGCCTTCTATGCAGGATCTTTTGGAAGAAGCATCCTCCAGGGACATGCAAATGGGGCCGGGG
CTGTTCCTGAGGATGCAGCTGGTGCCCTCCATAGAAGAGAGGGAGACACCATTGACTCGAGAGGACCGGCCAGCTCTCCAGGAGCCGCCTTGGTCTCTGGGATGC
ACGGGACTGAAGGCCGCTATGCAGATTCAGAGGGTGGTGATACCAGTGCCTACTCTGGGCCACCGCAACCCATGGGTGGCCAGGGATTCTGCTGTGCCTGCACGT
GACCCTGCCTGGCTTCAGGAGGACAAAGTGGAGGAAGAAGCTATGGCTCCTGGGCTGCCAACCGCCTGTTCACAGGAACCAGTCACCTTTGCAGATGTGGCTGTG
GTGTTCACCCCAGAAGAATGGGTGTTTCTGGACTCTACTCAGAGGAGCCTGTATAGAGATGTGATGCTGGAGAACTACAGGAACCTGGCCTCTGTGGCTGATCAA
CTGTGCAAACCCAATGCGTTGTCTTATTTGGAAGAAAGAGGAGAGCAGTGGACCACTGACAGGGGCGTCCTCTCAGACACCTGTGCAGAACCTCAGTGTCAACCC
CAAGAGGCAATTCCTAGCCAAGATACTTTTACAGAGATCCTGTCCATTGATGTGAAAGGGGAGCAACCTCAGCCTGGAGAAAAACTCTATAAATATAATGAACTT
GAGAAACCTTTTAACAGCATTGAACCACTTTTCCAGTACCAGAGAATTCATGCTGGAGAGGCATCCTGTGAATGTCAAGAGATTAGAAATTCCTTCTTCCAGAGT
GCCCACCTAATTGTGCCCGAGAAAATCCGTAGTGGGGATAAATCCTATGCATGTAACAAATGTGAAAAATCCTTCAGATACAGCTCTGACCTTATCAGGCATGAG
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>ZNF333|84449|protein
MESVTFEDVAVEFIQEWALLDSARRSLCKYRMLDQCRTLASRGTPPCKPSCVSQLGQRAEPKATERGILRATGVAWESQLKPEELPSMQDLLEEASSRDMQMGPG
LFLRMQLVPSIEERETPLTREDRPALQEPPWSLGCTGLKAAMQIQRVVIPVPTLGHRNPWVARDSAVPARDPAWLQEDKVEEEAMAPGLPTACSQEPVTFADVAV
VFTPEEWVFLDSTQRSLYRDVMLENYRNLASVADQLCKPNALSYLEERGEQWTTDRGVLSDTCAEPQCQPQEAIPSQDTFTEILSIDVKGEQPQPGEKLYKYNEL
EKPFNSIEPLFQYQRIHAGEASCECQEIRNSFFQSAHLIVPEKIRSGDKSYACNKCEKSFRYSSDLIRHEKTHTAEKCFDCQECGQAFKYSSNLRRHMRTHTGEK
PFECSQCGKTFTRNFNLILHQRNHTGEKPYECKDCGKAFNQPSSLRSHVRTHTGEKPFECSQCGKAFREHSSLKTHLRTHTREKPYECNQCGKPFRTSTHLNVHK
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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
Philippe, 1999 Sweden, France, Norway, Italy, Austria, Belgium, U microsatellite-based genomic screenautism 51 - 51 - - - -
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
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