AutismKB 2.0

Evidence Details for ZNF423


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Basic Information Top
Gene Symbol:ZNF423 ( Ebfaz,KIAA0760,MGC138520,MGC138522,OAZ,Roaz,ZFP423,Zfp104 )
Gene Full Name: zinc finger protein 423
Band: 16q12.1
Quick LinksEntrez ID:23090; OMIM: 604557; Uniprot ID:ZN423_HUMAN; ENSEMBL ID: ENSG00000102935; HGNC ID: 16762
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF423|23090|nucleotide
ATGCATAAGAAGAGGGTTGAAGAGGGGGAGGCCTCAGACTTCTCGCTGGCCTGGGATTCCTCCGTGACAGCAGCAGGAGGCCTAGAAGGAGAGCCAGAGTGCGAT
CAGAAAACCAGCCGTGCGCTGGAAGACAGGAACAGCGTGACAAGTCAAGAGGAGAGAAATGAGGATGATGAAGACATGGAGGATGAATCAATTTACACCTGCGAT
CACTGTCAGCAGGACTTCGAGTCTCTGGCAGACCTGACGGACCACCGGGCCCACCGCTGTCCTGGAGATGGTGATGACGACCCACAACTCTCCTGGGTGGCCTCG
TCTCCCTCCAGCAAGGATGTTGCGTCACCCACGCAGATGATCGGAGATGGTTGTGACCTCGGCCTCGGCGAGGAGGAAGGGGGCACGGGCCTGCCATACCCTTGC
CAGTTCTGCGACAAGTCCTTCATCCGCTTGAGCTACTTGAAGAGGCACGAGCAGATCCACAGCGACAAGCTGCCGTTCAAGTGCACCTACTGCAGCCGCCTCTTC
AAGCACAAGAGGAGCCGCGACCGGCACATCAAGCTGCATACGGGCGACAAGAAGTATCACTGCCACGAGTGCGAGGCAGCCTTCTCCCGCAGCGACCACCTCAAG
ATCCACCTGAAGACCCACAGCTCCAGCAAGCCCTTCAAGTGCACTGTGTGCAAGCGCGGCTTCTCCTCCACCAGCTCGCTGCAGAGCCACATGCAGGCCCACAAA
AAGAACAAGGAGCATCTGGCCAAGTCGGAGAAGGAAGCCAAGAAGGACGACTTCATGTGCGACTACTGCGAGGACACCTTCAGCCAGACGGAGGAGCTGGAGAAG
CACGTGCTCACCCGCCACCCGCAGCTGTCCGAGAAGGCGGACCTGCAGTGCATTCACTGCCCTGAGGTCTTCGTCGACGAGAACACACTGCTCGCCCATATCCAC
CAAGCCCACGCCAACCAGAAACACAAGTGCCCCATGTGCCCTGAGCAGTTCTCCTCAGTGGAAGGTGTCTACTGCCACCTGGACAGCCACCGGCAGCCCGACTCC
AGCAACCACAGTGTCAGTCCCGACCCTGTACTGGGCAGCGTGGCCTCCATGAGCAGCGCCACACCCGACTCCAGCGCCTCTGTGGAGCGTGGCTCCACCCCGGAC
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>ZNF423|23090|protein
MHKKRVEEGEASDFSLAWDSSVTAAGGLEGEPECDQKTSRALEDRNSVTSQEERNEDDEDMEDESIYTCDHCQQDFESLADLTDHRAHRCPGDGDDDPQLSWVAS
SPSSKDVASPTQMIGDGCDLGLGEEEGGTGLPYPCQFCDKSFIRLSYLKRHEQIHSDKLPFKCTYCSRLFKHKRSRDRHIKLHTGDKKYHCHECEAAFSRSDHLK
IHLKTHSSSKPFKCTVCKRGFSSTSSLQSHMQAHKKNKEHLAKSEKEAKKDDFMCDYCEDTFSQTEELEKHVLTRHPQLSEKADLQCIHCPEVFVDENTLLAHIH
QAHANQKHKCPMCPEQFSSVEGVYCHLDSHRQPDSSNHSVSPDPVLGSVASMSSATPDSSASVERGSTPDSTLKPLRGQKKMRDDGQGWTKVVYSCPYCSKRDFN
SLAVLEIHLKTIHADKPQQSHTCQICLDSMPTLYNLNEHVRKLHKNHAYPVMQFGNISAFHCNYCPEMFADINSLQEHIRVSHCGPNANPSDGNNAFFCNQCSMG
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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 (1) 1 (1) 0 (0) 0 (0) 0 (0) 2 (3) 0 (0) 0 (0) 0 (0) 22 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
Fromer M, 2014 - - 94 De novo mutations in schizophrenia implicate synaptic networks.
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