AutismKB 2.0

Evidence Details for ZEB2


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Basic Information Top
Gene Symbol:ZEB2 ( FLJ42816,KIAA0569,SIP-1,SIP1,SMADIP1,ZFHX1B )
Gene Full Name: zinc finger E-box binding homeobox 2
Band: 2q22.3
Quick LinksEntrez ID:9839; OMIM: 605802; Uniprot ID:ZEB2_HUMAN; ENSEMBL ID: ENSG00000169554; HGNC ID: 14881
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZEB2|9839|nucleotide
ATGAAGCAGCCGATCATGGCGGATGGCCCCCGGTGCAAGAGGCGCAAACAAGCCAATCCCAGGAGGAAAAACGTGGTGAACTATGACAATGTAGTGGACACAGGT
TCTGAAACAGATGAGGAAGACAAGCTTCATATTGCTGAGGATGACGGTATTGCCAACCCTCTGGACCAGGAGACGAGTCCAGCTAGTGTGCCCAACCATGAGTCC
TCCCCACACGTGAGCCAAGCTCTGTTGCCAAGAGAGGAAGAGGAAGATGAAATAAGGGAGGGTGGAGTGGAACACCCCTGGCACAACAACGAGATTCTACAAGCC
TCTGTAGATGGTCCAGTGAAGAATGCAAATTGCACATCAGATTTTGAGGAATACTTTGCCAAAAGAAAACTGGAGGAACGCGATGGTCATGCAGTCAGCATCGAG
GAGTACCTTCAGCGCAGTGACACAGCCATTATTTACCCAGAAGCCCCTGAGGAGCTGTCTCGCCTTGGCACGCCAGAGGCCAATGGGCAAGAAGAAAATGACCTG
CCACCTGGAACTCCAGATGCTTTTGCCCAACTGCTGACCTGCCCCTACTGCGACCGGGGCTACAAGCGCTTGACATCACTGAAGGAGCACATCAAGTACCGCCAC
GAGAAGAATGAAGAGAACTTTTCCTGCCCTCTCTGTAGCTACACGTTTGCCTACCGCACCCAGCTCGAGCGGCATATGGTGACACACAAGCCAGGGACAGATCAG
CACCAAATGCTAACCCAAGGAGCAGGTAATCGCAAGTTCAAATGCACAGAGTGTGGCAAGGCCTTCAAATATAAACACCATCTGAAAGAACACCTGCGAATTCAC
AGTGGTGAAAAACCTTACGAGTGCCCAAACTGCAAGAAACGTTTCTCCCATTCTGGTTCCTACAGTTCGCACATCAGCAGCAAGAAATGTATTGGTTTAATCTCT
GTAAATGGCCGAATGAGAAACAATATCAAGACGGGTTCTTCCCCTAATTCTGTTTCTTCTTCTCCTACTAATTCAGCCATTACCCAGTTAAGAAACAAGTTGGAG
AATGGAAAACCACTTAGTATGTCTGAACAGACAGGCTTACTTAAAATTAAAACAGAACCACTAGACTTCAATGACTATAAAGTTCTTATGGCTACACACGGGTTT
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>ZEB2|9839|protein
MKQPIMADGPRCKRRKQANPRRKNVVNYDNVVDTGSETDEEDKLHIAEDDGIANPLDQETSPASVPNHESSPHVSQALLPREEEEDEIREGGVEHPWHNNEILQA
SVDGPVKNANCTSDFEEYFAKRKLEERDGHAVSIEEYLQRSDTAIIYPEAPEELSRLGTPEANGQEENDLPPGTPDAFAQLLTCPYCDRGYKRLTSLKEHIKYRH
EKNEENFSCPLCSYTFAYRTQLERHMVTHKPGTDQHQMLTQGAGNRKFKCTECGKAFKYKHHLKEHLRIHSGEKPYECPNCKKRFSHSGSYSSHISSKKCIGLIS
VNGRMRNNIKTGSSPNSVSSSPTNSAITQLRNKLENGKPLSMSEQTGLLKIKTEPLDFNDYKVLMATHGFSGTSPFMNGGLGATSPLGVHPSAQSPMQHLGVGME
APLLGFPTMNSNLSEVQKVLQIVDNTVSRQKMDCKAEEISKLKGYHMKDPCSQPEEQGVTSPNIPPVGLPVVSHNGATKSIIDYTLEKVNEAKACLQSLTTDSRR
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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 1 (2) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (4)
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: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
MIXED/OTHERS
Liu X, 2016_2 replication TaqMan 1409
(-)
ASD -
-
- 184
(-)
-
-
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
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
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
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