AutismKB 2.0

Evidence Details for ZBTB4


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Basic Information Top
Gene Symbol:ZBTB4 ( KAISO-L1,KIAA1538,ZNF903 )
Gene Full Name: zinc finger and BTB domain containing 4
Band: 17p13.1
Quick LinksEntrez ID:57659; OMIM: 612308; Uniprot ID:ZBTB4_HUMAN; ENSEMBL ID: ENSG00000174282; HGNC ID: 23847
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZBTB4|57659|nucleotide
ATGCCCCCCCCTGCAGAGGTGACGGACCCGTCCCATGCCCCCGCCGTCCTGCGCCAGCTCAATGAACAGCGGCTCCGTGGCCTCTTCTGTGACGTCACCCTCATA
GCCGGAGACACCAAGTTCCCTGCTCACCGCAGCGTCCTGGCTGCTTCAAGTCCCTTCTTCAGAGAGGCCCTGCTCACTTCAGCCCCACTACCCCTTCCACCAGCT
ACTGGGGGCGCCGCACCCAACCCTGCCACCACCACAGCTGCCTCTTCCTCCTCCTCCTCTTCCTCGTCTTCTTCCTCTTCTTCCTCCTCTGCTTCTTCTTCTTCT
TCCTCTTCCTCTTCCTCTCCCCCTCCAGCCTCTCCCCCTGCTTCTTCCCCACCCCGGGTCCTGGAGTTGCCAGGAGTCCCAGCAGCTGCGTTTTCTGATGTCCTC
AACTTCATCTACAGCGCCCGGCTCGCACTGCCTGGTGGTGGAGGGGACGGGGCAGCTGTAGCAGAGATTGGAGCTTTGGGGCGCCGTCTGGGCATCTCCCGCCTT
CAGGGCCTGGGGGAGGGAGGTGATGCCTGGGTACCTCCTACCCCAGCCCCCATGGCCACCTCGCAGCCTGAAGAGGACAGCTTTGGGCCCGGGCCCAGGCCAGCT
GGGGAGTGGGAGGGTGACAGGGCTGAGGCCCAGGCCCCTGACTTGCAGTGCTCCCTGCCCCGGCGGCCCCTCCCCTGCCCCCAGTGTGGAAAAAGCTTCATCCAT
CCCAAACGGCTGCAGACCCATGAGGCCCAGTGCCGACGAGGGGCCAGCACGCGGGGGTCTACAGGGCTGGGAGCTGGGGGCGCTGGCCCTGGTGGTCCTGCAGGG
GTGGACGCCTCAGCCCTGCCTCCACCAGTGGGCTTCCGAGGGGGCCCCGAGCACGTGGTGAAGGTGGTGGGCGGCCACGTGCTGTATGTGTGCGCGGCCTGCGAG
CGTTCCTACGTGACCCTGTCCAGTCTGAAGAGACACAGCAATGTACACTCGTGGCGGAGGAAGTACCCCTGCCGCTATTGTGAGAAAGTGTTTGCTCTGGCGGAG
TACCGCACGAAGCATGAAGTGTGGCACACGGGGGAGCGCAGGTACCAGTGCATCTTCTGTTGGGAGACCTTTGTCACTTACTATAACCTGAAGACCCACCAGCGA
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>ZBTB4|57659|protein
MPPPAEVTDPSHAPAVLRQLNEQRLRGLFCDVTLIAGDTKFPAHRSVLAASSPFFREALLTSAPLPLPPATGGAAPNPATTTAASSSSSSSSSSSSSSSSASSSS
SSSSSSPPPASPPASSPPRVLELPGVPAAAFSDVLNFIYSARLALPGGGGDGAAVAEIGALGRRLGISRLQGLGEGGDAWVPPTPAPMATSQPEEDSFGPGPRPA
GEWEGDRAEAQAPDLQCSLPRRPLPCPQCGKSFIHPKRLQTHEAQCRRGASTRGSTGLGAGGAGPGGPAGVDASALPPPVGFRGGPEHVVKVVGGHVLYVCAACE
RSYVTLSSLKRHSNVHSWRRKYPCRYCEKVFALAEYRTKHEVWHTGERRYQCIFCWETFVTYYNLKTHQRAFHGISPGLLASEKTPNGGYKPKLNTLKLYRLLPM
RAAKRPYKTYSQGAPEAPLSPTLNTPAPVAMPASPPPGPPPAPEPGPPPSVITFAHPAPSVIVHGGSSSGGGGSGTASTGGSQAASVITYTAPPRPPKKREYPPP
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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 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Lamb, 2005 - microsatellite-based genomic screenautism 207 - 207 - 420 - -
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
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
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