AutismKB 2.0

Evidence Details for TOX


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Basic Information Top
Gene Symbol:TOX ( KIAA0808,TOX1 )
Gene Full Name: thymocyte selection-associated high mobility group box
Band: 8q12.1
Quick LinksEntrez ID:9760; OMIM: 606863; Uniprot ID:TOX_HUMAN; ENSEMBL ID: ENSG00000198846; HGNC ID: 18988
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TOX|9760|nucleotide
ATGGACGTAAGATTTTATCCACCTCCAGCCCAGCCCGCCGCTGCGCCCGACGCTCCCTGTCTGGGACCTTCTCCCTGCCTGGACCCCTACTATTGCAACAAGTTT
GACGGTGAGAACATGTATATGAGCATGACAGAGCCGAGCCAGGACTATGTGCCAGCCAGCCAGTCCTACCCTGGTCCAAGCCTGGAAAGTGAAGACTTCAACATT
CCACCAATTACTCCTCCTTCCCTCCCAGACCACTCGCTGGTGCACCTGAATGAAGTTGAGTCTGGTTACCATTCTCTGTGTCACCCCATGAACCATAATGGCCTG
CTACCATTTCATCCACAAAACATGGACCTCCCTGAAATCACAGTCTCCAATATGCTGGGCCAGGATGGAACACTGCTTTCTAATTCCATTTCTGTGATGCCAGAT
ATACGAAACCCAGAAGGAACTCAGTACAGTTCCCATCCTCAGATGGCAGCCATGAGACCAAGGGGCCAGCCTGCAGACATCAGGCAGCAGCCAGGAATGATGCCA
CATGGCCAGCTGACTACCATTAACCAGTCACAGCTAAGTGCTCAACTTGGTTTGAATATGGGAGGAAGCAATGTTCCCCACAACTCACCATCTCCACCTGGAAGC
AAGTCTGCAACTCCTTCACCATCCAGTTCAGTGCATGAAGATGAAGGCGATGATACCTCTAAGATCAATGGTGGAGAGAAGCGGCCTGCCTCTGATATGGGGAAA
AAACCAAAAACTCCCAAAAAGAAGAAGAAGAAGGATCCCAATGAGCCCCAGAAGCCTGTGTCTGCCTATGCGTTATTCTTTCGTGATACTCAGGCCGCCATCAAG
GGCCAAAATCCAAACGCTACCTTTGGCGAAGTCTCTAAAATTGTGGCTTCAATGTGGGACGGTTTAGGAGAAGAGCAAAAACAGGTCTATAAAAAGAAAACCGAG
GCTGCGAAGAAGGAGTACCTGAAGCAACTCGCAGCATACAGAGCCAGCCTTGTATCCAAGAGCTACAGTGAACCTGTTGACGTGAAGACATCTCAACCTCCTCAG
CTGATCAATTCGAAGCCGTCGGTGTTCCATGGGCCCAGCCAGGCCCACTCGGCCCTGTACCTAAGTTCCCACTATCACCAACAACCGGGAATGAATCCTCACCTA
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>TOX|9760|protein
MDVRFYPPPAQPAAAPDAPCLGPSPCLDPYYCNKFDGENMYMSMTEPSQDYVPASQSYPGPSLESEDFNIPPITPPSLPDHSLVHLNEVESGYHSLCHPMNHNGL
LPFHPQNMDLPEITVSNMLGQDGTLLSNSISVMPDIRNPEGTQYSSHPQMAAMRPRGQPADIRQQPGMMPHGQLTTINQSQLSAQLGLNMGGSNVPHNSPSPPGS
KSATPSPSSSVHEDEGDDTSKINGGEKRPASDMGKKPKTPKKKKKKDPNEPQKPVSAYALFFRDTQAAIKGQNPNATFGEVSKIVASMWDGLGEEQKQVYKKKTE
AAKKEYLKQLAAYRASLVSKSYSEPVDVKTSQPPQLINSKPSVFHGPSQAHSALYLSSHYHQQPGMNPHLTAMHPSLPRNIAPKPNNQMPVTVSIANMAVSPPPP
LQISPPLHQHLNMQQHQPLTMQQPLGNQLPMQVQSALHSPTMQQGFTLQPDYQTIINPTSTAAQVVTQAMEYVRSGCRNPPPQPVDWNNDYCSSGGMQRDKALYL
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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
Score (No. of Studies) No 0 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (3)
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
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.755227 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1788886
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Nilsson D, 2017 8 - 17 Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially
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