AutismKB 2.0

Evidence Details for ZNF74


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Basic Information Top
Gene Symbol:ZNF74 ( Cos52,ZNF520,Zfp520 )
Gene Full Name: zinc finger protein 74
Band: 22q11.21
Quick LinksEntrez ID:7625; OMIM: 194548; Uniprot ID:ZNF74_HUMAN; ENSEMBL ID: ENSG00000185252; HGNC ID: 13144
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF74|7625|nucleotide
ATGGAGATCCCTGCCCCGGAGCCCGAGAAGACAGCTCTTTCCTCTCAGGATCCTGCTCTTTCCCTGAAAGAGAATCTCGAGGATATATCGGGTTGGGGTCTTCCC
GAAGCCAGGTCCAAGGAATCGGTGAGTTTCAAGGATGTGGCTGTGGACTTCACCCAGGAGGAGTGGGGTCAACTAGACTCCCCTCAGAGGGCCTTGTACCGGGAT
GTGATGTTGGAGAACTACCAGAACCTTCTTGCCCTAGGACCTCCACTGCACAAGCCAGATGTGATCTCTCATCTGGAACGAGGCGAGGAGCCATGGAGCATGCAG
AGGGAAGTCCCCAGAGGGCCCTGTCCAGAATGGGAGCTGAAGGCGGTGCCCTCTCAACAGCAGGGCATTTGCAAAGAAGAACCGGCCCAGGAGCCCATCATGGAG
CGGCCCCTCGGCGGGGCGCAGGCGTGGGGGCGCCAGGCAGGTGCTCTGCAGAGGAGTCAGGCTGCGCCCTGGGCGCCCGCACCTGCCATGGTCTGGGACGTCCCT
GTAGAGGAATTCCCCCTCAGGTGTCCCCTCTTCGCCCAGCAACGCGTTCCCGAGGGGGGACCCTTGCTGGACACACGCAAGAACGTCCAGGCCACTGAGGGCAGA
ACCAAGGCCCCCGCGAGACTGTGTGCAGGGGAAAACGCCTCCACGCCAAGTGAGCCAGAAAAGTTCCCCCAGGTGCGCCGGCAGCGCGGGGCGGGCGCCGGGGAG
GGCGAGTTCGTGTGCGGCGAGTGCGGGAAGGCGTTCCGCCAGAGCTCCTCCCTCACGCTGCACCGGCGCTGGCACAGCCGGGAGAAGGCTTACAAGTGCGATGAA
TGCGGCAAGGCCTTCACCTGGAGCACCAACCTTCTGGAGCACCGGCGCATCCACACCGGCGAGAAGCCCTTCTTCTGCGGCGAGTGCGGGAAGGCCTTCAGCTGC
CACTCGTCCCTCAACGTGCACCAGCGCATCCACACGGGCGAGCGGCCCTACAAGTGCAGCGCCTGCGAGAAGGCCTTCAGCTGCAGCTCGCTGCTCAGCATGCAC
CTGCGGGTGCACACCGGCGAGAAGCCCTACCGGTGCGGCGAGTGCGGCAAGGCCTTCAACCAGCGTACACACCTCACACGCCACCACCGCATCCACACGGGCGAG
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>ZNF74|7625|protein
MEIPAPEPEKTALSSQDPALSLKENLEDISGWGLPEARSKESVSFKDVAVDFTQEEWGQLDSPQRALYRDVMLENYQNLLALGPPLHKPDVISHLERGEEPWSMQ
REVPRGPCPEWELKAVPSQQQGICKEEPAQEPIMERPLGGAQAWGRQAGALQRSQAAPWAPAPAMVWDVPVEEFPLRCPLFAQQRVPEGGPLLDTRKNVQATEGR
TKAPARLCAGENASTPSEPEKFPQVRRQRGAGAGEGEFVCGECGKAFRQSSSLTLHRRWHSREKAYKCDECGKAFTWSTNLLEHRRIHTGEKPFFCGECGKAFSC
HSSLNVHQRIHTGERPYKCSACEKAFSCSSLLSMHLRVHTGEKPYRCGECGKAFNQRTHLTRHHRIHTGEKPYQCGSCGKAFTCHSSLTVHEKIHSGDKPFKCSD
CEKAFNSRSRLTLHQRTHTGEKPFKCADCGKGFSCHAYLLVHRRIHSGEKPFKCNECGKAFSSHAYLIVHRRIHTGEKPFDCSQCWKAFSCHSSLIVHQRIHTGE
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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 (11) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 6 (12)
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
Roubertie, 2001 - FISHautism - - - - 1 - 1
Niklasson, 2002 Sweden FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Ramelli, 2008 - FISHASD - - - - 1 - 1
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Bremer, 2011 - aCGHASD - - - - 223 - 223
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bailey, 1998 - microsatellite-based genomic screenPDD 99 - 99 - - - -
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