Evidence Details for ZEB2
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 Links | Entrez 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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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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MKQPIMADGPRCKRRKQANPRRKNVVNYDNVVDTGSETDEEDKLHIAEDDGIANPLDQETSPASVPNHESSPHVSQALLPREEEEDEIREGGVEHPWHNNEILQA
SVDGPVKNANCTSDFEEYFAKRKLEERDGHAVSIEEYLQRSDTAIIYPEAPEELSRLGTPEANGQEENDLPPGTPDAFAQLLTCPYCDRGYKRLTSLKEHIKYRH
EKNEENFSCPLCSYTFAYRTQLERHMVTHKPGTDQHQMLTQGAGNRKFKCTECGKAFKYKHHLKEHLRIHSGEKPYECPNCKKRFSHSGSYSSHISSKKCIGLIS
VNGRMRNNIKTGSSPNSVSSSPTNSAITQLRNKLENGKPLSMSEQTGLLKIKTEPLDFNDYKVLMATHGFSGTSPFMNGGLGATSPLGVHPSAQSPMQHLGVGME
APLLGFPTMNSNLSEVQKVLQIVDNTVSRQKMDCKAEEISKLKGYHMKDPCSQPEEQGVTSPNIPPVGLPVVSHNGATKSIIDYTLEKVNEAKACLQSLTTDSRR
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
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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) |
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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, qPCR | ASD | - | - | - | - | 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 2000 | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies Top
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