AutismKB 2.0

Evidence Details for ZFHX3


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Basic Information Top
Gene Symbol:ZFHX3 ( ATBF1,ATBT,ZNF927 )
Gene Full Name: zinc finger homeobox 3
Band: 16q22.2-q22.3
Quick LinksEntrez ID:463; OMIM: 104155; Uniprot ID:ZFHX3_HUMAN; ENSEMBL ID: ENSG00000140836; HGNC ID: 777
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZFHX3|463|nucleotide
ATGCGGCTCGGGGGCGGGCAGCTGGTGTCAGAGGAGCTGATGAACCTGGGCGAGAGCTTCATCCAGACCAACGACCCGTCGCTGAAGCTCTTCCAGTGCGCCGTC
TGCAACAAGTTCACGACGGACAACCTGGACATGCTGGGCCTGCACATGAACGTGGAGCGCAGCCTGTCGGAGGACGAGTGGAAGGCGGTGATGGGGGACTCATAC
CAGTGCAAGCTCTGCCGCTACAACACCCAGCTCAAGGCCAACTTCCAGCTGCACTGCAAGACAGACAAGCACGTGCAGAAGTACCAGCTGGTGGCCCACATCAAG
GAGGGCGGCAAGGCCAACGAGTGGAGGCTCAAGTGTGTGGCCATCGGCAACCCCGTGCACCTCAAGTGCAACGCCTGTGACTACTACACCAACAGCCTGGAGAAG
CTGCGGCTGCACACGGTCAACTCCAGGCACGAGGCCAGCCTGAAGTTGTACAAGCACCTGCAGCAGCATGAGAGTGGTGTAGAAGGTGAGAGCTGCTACTACCAC
TGCGTTCTGTGCAACTACTCCACCAAGGCCAAGCTCAACCTCATCCAGCATGTGCGCTCCATGAAGCACCAGCGAAGCGAGAGCCTGCGAAAGCTGCAGCGGCTG
CAGAAGGGCCTTCCAGAGGAGGACGAGGACCTGGGGCAGATCTTCACCATCCGCAGGTGCCCCTCCACGGACCCAGAAGAAGCCATTGAAGATGTTGAAGGACCC
AGTGAAACAGCTGCTGATCCAGAGGAGCTTGCTAAGGACCAAGAGGGCGGAGCATCGTCCAGCCAAGCAGAGAAGGAGCTGACAGATTCTCCTGCAACCTCCAAA
CGCATCTCCTTCCCAGGTAGCTCAGAGTCTCCCCTCTCTTCGAAGCGACCAAAAACAGCTGAGGAGATCAAACCGGAGCAGATGTACCAGTGTCCCTACTGCAAG
TACAGTAATGCCGATGTCAACCGGCTCCGGGTGCATGCCATGACGCAGCACTCGGTGCAACCCATGCTTCGCTGCCCCCTGTGCCAGGACATGCTCAACAACAAG
ATCCACCTCCAGCTGCACCTCACCCACCTCCACAGCGTGGCACCTGACTGCGTGGAGAAGCTCATTATGACGGTGACCACCCCTGAGATGGTGATGCCAAGCAGC
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>ZFHX3|463|protein
MRLGGGQLVSEELMNLGESFIQTNDPSLKLFQCAVCNKFTTDNLDMLGLHMNVERSLSEDEWKAVMGDSYQCKLCRYNTQLKANFQLHCKTDKHVQKYQLVAHIK
EGGKANEWRLKCVAIGNPVHLKCNACDYYTNSLEKLRLHTVNSRHEASLKLYKHLQQHESGVEGESCYYHCVLCNYSTKAKLNLIQHVRSMKHQRSESLRKLQRL
QKGLPEEDEDLGQIFTIRRCPSTDPEEAIEDVEGPSETAADPEELAKDQEGGASSSQAEKELTDSPATSKRISFPGSSESPLSSKRPKTAEEIKPEQMYQCPYCK
YSNADVNRLRVHAMTQHSVQPMLRCPLCQDMLNNKIHLQLHLTHLHSVAPDCVEKLIMTVTTPEMVMPSSMFLPAAVPDRDGNSNLEEAGKQPETSEDLGKNILP
SASTEQSGDLKPSPADPGSVREDSGFICWKKGCNQVFKTSAALQTHFNEVHAKRPQLPVSDRHVYKYRCNQCSLAFKTIEKLQLHSQYHVIRAATMCCLCQRSFR
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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 (1) 1 (2) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (1) 0 (0) 2 (6)
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: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Hashimoto R, 2016 30 - 38 Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Toma C, 2014 - Illumina HiSeq 2000--ASD 10 - - 21 -
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