AutismKB 2.0

Evidence Details for ZNF438


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Basic Information Top
Gene Symbol:ZNF438 ( FLJ32761,MGC126671,bA330O11.1 )
Gene Full Name: zinc finger protein 438
Band: 10p11.23
Quick LinksEntrez ID:220929; OMIM: NA; Uniprot ID:ZN438_HUMAN; ENSEMBL ID: ENSG00000183621; HGNC ID: 21029
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF438|220929|nucleotide
ATGCAGAATTCTGTATCAGTACCACCAAAAGATGAAGGTGAATCAAACATCCCTTCTGGAACAATACAGAGTAGGAAAGGTTTGCAGAATAAGAGTCAGTTTAGG
ACCATTGCACCAAAAATTGTGCCCAAAGTCCTAACGTCCAGAATGCTGCCATGTCATTCACCATCACGCTCTGATCAGGTGAATCTGGGACCCTCCATCAACTCC
AAGCTGCTGGGGATGTCCACCCAGAACTATGCCCTGATGCAGGTTGCTGGCCAGGAGGGGACATTTTCTCTTGTTGCTCTGCCACATGTTGCCTCAGCTCAGCCA
ATTCAGAAACCCAGAATGTCCCTACCTGAAAACCTGAAACTTCCTATTCCTAGATATCAACCCCCTAGAAATAGCAAAGCATCAAGAAAGAAACCCATCCTGATC
TTTCCTAAGAGTGGCTGTAGCAAAGCTCCTGCCCAAACCCAAATGTGTCCTCAGATGTCCCCTTCCCCACCTCACCACCCTGAACTCCTGTACAAACCCAGTCCA
TTTGAGGAAGTACCATCACTAGAGCAAGCCCCAGCCAGCATTAGCACAGCTGCGCTGACCAATGGAAGTGACCATGGGGACTTGAGACCACCAGTGACCAACACC
CATGGCAGTCTGAACCCTCCTGCTACCCCAGCATCATCCACACCAGAGGAGCCTGCCAAGCAGGACCTCACAGCTCTTTCAGGGAAAGCACACTTTGTAAGCAAG
ATAACATCTAGTAAACCTTCTGCTGTTGCCAGTGAAAAATTTAAAGAACAAGTTGATCTTGCAAAAACCATGACCAATTTATCACCAACCATTCTTGGCAATGCA
GTTCAGTTGATCTCTTCAGTCCCCAAAGGGAAACTGCCAATCCCACCCTACTCAAGAATGAAGACAATGGAGGTTTACAAAATCAAATCAGATGCTAACATTGCA
GGTTTTTCTTTACCAGGACCTAAGGCCGACTGTGATAAGATACCCTCCACCACAGAAGGCTTTAATGCAGCCACCAAGGTGGCAAGCAGGCTACCTGTTCCACAA
GTGTCACAGCAGAGTGCCTGTGAAAGTGCCTTTTGTCCACCCACCAAACTTGATCTTAACCACAAAACAAAACTGAACAGTGGAGCAGCAAAGAGAAAAGGAAGA
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>ZNF438|220929|protein
MQNSVSVPPKDEGESNIPSGTIQSRKGLQNKSQFRTIAPKIVPKVLTSRMLPCHSPSRSDQVNLGPSINSKLLGMSTQNYALMQVAGQEGTFSLVALPHVASAQP
IQKPRMSLPENLKLPIPRYQPPRNSKASRKKPILIFPKSGCSKAPAQTQMCPQMSPSPPHHPELLYKPSPFEEVPSLEQAPASISTAALTNGSDHGDLRPPVTNT
HGSLNPPATPASSTPEEPAKQDLTALSGKAHFVSKITSSKPSAVASEKFKEQVDLAKTMTNLSPTILGNAVQLISSVPKGKLPIPPYSRMKTMEVYKIKSDANIA
GFSLPGPKADCDKIPSTTEGFNAATKVASRLPVPQVSQQSACESAFCPPTKLDLNHKTKLNSGAAKRKGRKRKVPDEILAFQGKRRKYIINKCRDGKERVKNDPQ
EFRDQKLGTLKKYRSIMPKPIMVIPTLASLASPTTLQSQMLGGLGQDVLLNNSLTPKYLGCKQDNSSSPKPSSVFRNGFSGIKKPWHRCHVCNHHFQFKQHLRDH
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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 (1) 1 (2) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Spence, 2006 USA microsatellite-based genomic screenASD 133 - 133 - 280 - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
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
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