AutismKB 2.0

Evidence Details for ZBED4


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Basic Information Top
Gene Symbol:ZBED4 ( - )
Gene Full Name: zinc finger, BED-type containing 4
Band: 22q13.33
Quick LinksEntrez ID:9889; OMIM: 612552; Uniprot ID:ZBED4_HUMAN; ENSEMBL ID: ENSG00000100426; HGNC ID: 20721
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZBED4|9889|nucleotide
ATGGAGAATAACTTGAAAACTTGTCCCAAAGAGGACGGTGATTTCGTTTCTGATAAAATAAAGTTTAAAATAGAAGAGGAAGATGATGATGGAATTCCTCCTGAT
AGTTTGGAAAGAATGGACTTTAAAAGCGAGCAGGAGGACATGAAGCAGACAGACAGCGGTGGGGAGCGAGCGGGCCTCGGTGGGACGGGTTGCAGCTGCAAGCCC
CCGGGGAAGTACTTGTCTGCAGAGAGTGAGGATGACTATGGCGCGCTGTTCTCCCAGTACAGCAGCACCCTATACGACGTGGCCATGGAGGCCGTGACCCAGAGC
CTCCTTTCCAGCCGGAACATGAGCTCCAGGAAGAAGTCTCCAGCCTGGAAGCATTTTTTTATCTCTCCCCGAGACAGCACTAAAGCAATATGCATGTACTGTGTG
AAGGAGTTCAGCAGAGGCAAAAACGAGAAAGACTTGAGTACCAGTTGTCTCATGAGGCACGTGAGGCGCGCACACCCGACCGTGCTCATTCAGGAAAATGGCAGT
GTGTCTGCCGTGTCCTCGTTCCCCTCTCCCTCACTCCTGCTTCCACCACAGCCTGCGGACGCGGGTGACCTCAGCACCATCCTCTCACCCATCAAACTTGTCCAG
AAAGTGGCGTCTAAGATCCCGTCCCCCGATCGAATAACAGAGGAGTCTGTGTCTGTAGTTTCTTCTGAAGAAATCTCCTCTGACATGTCCGTTTCGGAGAAGTGC
GGCAGAGAAGAAGCCCTGGTGGGGTCGTCTCCCCACCTCCCTGCTCTCCATTACGATGAACCTGCAGAGAACTTAGCGGAGAAGAGCCTTCCACTTCCAAAGAGC
ACCTCTGGGTCCAGGAGAAGGTCCGCTGTCTGGAAGCACTTCTACCTGTCGCCACTGGACAACTCCAAAGCTGTCTGCATTCACTGCATGAACGAGTTCAGCCGG
GGGAAGAATGGGAAGGACCTGGGCACGAGCTGCCTCATCAGGCACATGTGGAGGGCACACCGCGCCATCGTGTTGCAGGAGAACGGGGGCACGGGCATCCCGCCA
CTGTACTCCACCCCTCCCACTCTGCTGCCTTCCTTGCTGCCGCCGGAGGGGGAGCTCAGCTCTGTGTCCTCGTCTCCAGTAAAGCCGGTCAGAGAGTCCCCTTCG
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>ZBED4|9889|protein
MENNLKTCPKEDGDFVSDKIKFKIEEEDDDGIPPDSLERMDFKSEQEDMKQTDSGGERAGLGGTGCSCKPPGKYLSAESEDDYGALFSQYSSTLYDVAMEAVTQS
LLSSRNMSSRKKSPAWKHFFISPRDSTKAICMYCVKEFSRGKNEKDLSTSCLMRHVRRAHPTVLIQENGSVSAVSSFPSPSLLLPPQPADAGDLSTILSPIKLVQ
KVASKIPSPDRITEESVSVVSSEEISSDMSVSEKCGREEALVGSSPHLPALHYDEPAENLAEKSLPLPKSTSGSRRRSAVWKHFYLSPLDNSKAVCIHCMNEFSR
GKNGKDLGTSCLIRHMWRAHRAIVLQENGGTGIPPLYSTPPTLLPSLLPPEGELSSVSSSPVKPVRESPSASSSPDRLTEDLQSHLNPGDGLMEDVAAFSSSDDI
GEASASSPEKQQADGLSPRLFESGAIFQQNKKVMKRLKSEVWHHFSLAPMDSLKAECRYCGCAISRGKKGDVGTSCLMRHLYRRHPEVVGSQKGFLGASLANSPY
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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 (10) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (11)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Goizet, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Yuen RK, 2016 - WGSASD 200 - - - 200 - -
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
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
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