AutismKB 2.0

Evidence Details for ZBTB2


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Basic Information Top
Gene Symbol:ZBTB2 ( ZNF437 )
Gene Full Name: zinc finger and BTB domain containing 2
Band: 6q25.1
Quick LinksEntrez ID:57621; OMIM: NA; Uniprot ID:ZBTB2_HUMAN; ENSEMBL ID: ENSG00000181472; HGNC ID: 20868
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZBTB2|57621|nucleotide
ATGGATTTGGCCAACCATGGACTTATTCTACTGCAACAGTTAAACGCTCAGCGAGAGTTTGGTTTCCTGTGTGACTGCACGGTTGCAATCGGCGATGTATACTTC
AAGGCACACAAATCAGTTCTTGCTTCATTCTCCAATTACTTTAAGATGTTGTTTGTCCATCAGACCAGTGAGTGTGTCCGCTTGAAACCAACTGACATACAGCCC
GACATCTTCAGCTATCTCTTACACTTGATGTACACTGGGAAGATGGCGCCTCAGCTCATCGACCCGGTTCGATTAGAACAGGGCATCAAGTTTCTGCACGCCTAC
CCGCTCATTCAGGAAGCCAGCCTCGCCAGCCAGGGAGCCTTTTCTCACCCTGACCAAGTTTTCCCACTGGCTTCTTCATTGTATGGCATTCAGATTGCAGATCAT
CAGTTGAGACAAGCCACCAAGATTGCTTCAGCACCTGAAAAACTCGGGCGAGATCCACGGCCACAGACCTCCAGGATAAGCCAGGAGCAGGTCCCTGAGGCCTCA
CAGCTCTCCCAGCTGACTTCAAATCTGGCCCAGGTGAATCGGACAAATATGACTCCCTCAGACCCCCTGCAGACCTCGCTGTCTCCAGAACTTGTTTCCACTCCT
GTTCCTCCCCCTCCTCCCGGGGAGGAGACCAATCTGGAAGCATCTTCCTCCGATGAGCAGCCTGCGTCCCTCACAATAGCCCACGTCAAGCCAAGCATCATGAAG
AGGAATGGGAGCTTTCCAAAGTACTATGCCTGCCACCTGTGTGGACGGCGCTTCACTCTCCGGAGCAGCTTACGTGAACACCTCCAGATCCACACAGGAGTACCT
TTCACATCTAGCCAACAGGGAGAAAGTCGCGTCCCCCTGACTCTCTGTAGCAATGCAGCTGACCTCGGGAAAGATGCCATGGAAGTGCCTGAAGCCGGGATGATA
AGTGACAGTGAGCTGCAGCACATCTCTGATTCTCCCATCATCGATGGGCAGCAGCAGTCGGAAACCCCACCCCCCTCAGACATTGCTGACATTGACAACCTGGAG
CAGGCCGACCAGGAGAGGGAGGTGAAGAGGCGGAAGTACGAGTGCACAATATGTGGACGCAAATTTATCCAGAAAAGCCACTGGAGGGAACACATGTACATACAC
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>ZBTB2|57621|protein
MDLANHGLILLQQLNAQREFGFLCDCTVAIGDVYFKAHKSVLASFSNYFKMLFVHQTSECVRLKPTDIQPDIFSYLLHLMYTGKMAPQLIDPVRLEQGIKFLHAY
PLIQEASLASQGAFSHPDQVFPLASSLYGIQIADHQLRQATKIASAPEKLGRDPRPQTSRISQEQVPEASQLSQLTSNLAQVNRTNMTPSDPLQTSLSPELVSTP
VPPPPPGEETNLEASSSDEQPASLTIAHVKPSIMKRNGSFPKYYACHLCGRRFTLRSSLREHLQIHTGVPFTSSQQGESRVPLTLCSNAADLGKDAMEVPEAGMI
SDSELQHISDSPIIDGQQQSETPPPSDIADIDNLEQADQEREVKRRKYECTICGRKFIQKSHWREHMYIHTGKPFKCSTCDKSFCRANQAARHVCLNQSIDTYTM
VDKQTLELCTFEEGSQMDNMLVQTNKPYKCNLCDKTFSTPNEVVKHSCQNQNSDVFALDEGRSILLGSGDSEVTEPDHPVLASIKKEQETVLLD
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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) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (2)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
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
Chen R, 2017 107 116 128 Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut
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