AutismKB 2.0

Evidence Details for ZEB1


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Basic Information Top
Gene Symbol:ZEB1 ( AREB6,BZP,DELTAEF1,FECD6,MGC133261,NIL2A,TCF8,ZFHEP,ZFHX1A )
Gene Full Name: zinc finger E-box binding homeobox 1
Band: 10p11.22
Quick LinksEntrez ID:6935; OMIM: 189909; Uniprot ID:ZEB1_HUMAN; ENSEMBL ID: ENSG00000148516; HGNC ID: 11642
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZEB1|6935|nucleotide
ATGAAAGTTACAAATTATAATACTGTGGTAGAAACAAATTCAGATTCAGATGATGAAGACAAACTGCATATTGTGGAAGAAGAAAGTGTTACAGATGCAGCTGAC
TGTGAAGGTGTACCAGAGGATGACCTGCCAACAGACCAGACAGTGTTACCAGGGAGGAGCAGTGAAAGAGAAGGGAATGCTAAGAACTGCTGGGAGGATGACACA
GGAAAGGAAGGGCAAGAAATCCTGGGGCCTGAAGCTCAGGCAGATGAAGCAGGATGTACAGTAAAAGATGATGAATGCGAGTCAGATGCAGAAAATGAGCAAAAC
CATGATCCTAATGTTGAAGAGTTTCTACAACAACAAGACACTGCTGTCATTTTTCCTGAGGCACCTGAAGAGGACCAGAGGCAGGGCACACCAGAAGCCAGTGGT
CATGATGAAAATGGAACACCAGATGCATTTTCACAATTACTCACCTGTCCATATTGTGATAGAGGCTATAAACGCTTTACCTCTCTGAAAGAACACATTAAATAT
CGTCATGAAAAGAATGAAGATAACTTTAGTTGCTCCCTGTGCAGTTACACCTTTGCATACAGAACCCAACTTGAACGTCACATGACATCACATAAATCAGGAAGA
GATCAAAGACATGTGACGCAGTCTGGGTGTAATCGTAAATTCAAATGCACTGAGTGTGGAAAAGCTTTCAAATACAAACATCACCTAAAAGAGCACTTAAGAATT
CACAGTGGAGAGAAGCCATATGAATGCCCAAACTGCAAGAAACGCTTTTCCCATTCTGGCTCCTATAGCTCACACATAAGCAGTAAGAAATGTATCAGCTTGATA
CCTGTGAATGGGCGACCAAGAACAGGACTCAAGACATCTCAGTGTTCTTCACCGTCTCTTTCAGCATCACCAGGCAGTCCCACACGACCACAGATACGGCAAAAG
ATAGAGAATAAACCCCTTCAAGAACAACTTTCTGTTAACCAAATTAAAACTGAACCTGTGGATTATGAATTCAAACCCATAGTGGTTGCTTCAGGAATCAACTGT
TCAACCCCTTTACAAAATGGGGTTTTCACTGGTGGTGGCCCATTACAGGCAACCAGTTCTCCTCAGGGCATGGTGCAAGCTGTTGTTCTGCCAACAGTTGGTTTG
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>ZEB1|6935|protein
MKVTNYNTVVETNSDSDDEDKLHIVEEESVTDAADCEGVPEDDLPTDQTVLPGRSSEREGNAKNCWEDDTGKEGQEILGPEAQADEAGCTVKDDECESDAENEQN
HDPNVEEFLQQQDTAVIFPEAPEEDQRQGTPEASGHDENGTPDAFSQLLTCPYCDRGYKRFTSLKEHIKYRHEKNEDNFSCSLCSYTFAYRTQLERHMTSHKSGR
DQRHVTQSGCNRKFKCTECGKAFKYKHHLKEHLRIHSGEKPYECPNCKKRFSHSGSYSSHISSKKCISLIPVNGRPRTGLKTSQCSSPSLSASPGSPTRPQIRQK
IENKPLQEQLSVNQIKTEPVDYEFKPIVVASGINCSTPLQNGVFTGGGPLQATSSPQGMVQAVVLPTVGLVSPISINLSDIQNVLKVAVDGNVIRQVLENNQANL
ASKEQETINASPIQQGGHSVISAISLPLVDQDGTTKIIINYSLEQPSQLQVVPQNLKKENPVATNSCKSEKLPEDLTVKSEKDKSFEGGVNDSTCLLCDDCPGDI
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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 (0) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
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
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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