AutismKB 2.0

Evidence Details for TOX2


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Basic Information Top
Gene Symbol:TOX2 ( C20orf100,GCX-1,MGC15880,dJ1108D11.2,dJ495O3.1 )
Gene Full Name: TOX high mobility group box family member 2
Band: 20q13.12
Quick LinksEntrez ID:84969; OMIM: 611163; Uniprot ID:TOX2_HUMAN; ENSEMBL ID: ENSG00000124191; HGNC ID: 16095
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TOX2|84969|nucleotide
ATGAGTGACGGAAACCCAGAGCTCCTGTCAACCAGCCAGACCTACAACGGCCAGAGCGAGAACAACGAAGACTATGAGATCCCCCCGATAACACCTCCCAACCTC
CCGGAGCCATCCCTCCTGCACCTGGGGGACCACGAAGCCAGCTACCACTCGCTGTGCCACGGCCTCACCCCCAACGGTCTGCTCCCTGCCTACTCCTATCAGGCC
ATGGACCTCCCAGCCATCATGGTGTCCAACATGCTAGCACAGGACAGCCACCTGCTGTCGGGCCAGCTGCCCACGATCCAGGAGATGGTCCACTCGGAAGTGGCT
GCCTATGACTCGGGCCGGCCCGGGCCCCTGCTGGGTCGCCCGGCAATGCTGGCCAGCCACATGAGTGCCCTCAGCCAGTCCCAGCTCATCTCGCAGATGGGCATC
CGGAGCAGCATCGCCCACAGCTCCCCATCACCGCCGGGGAGCAAGTCAGCGACCCCCTCTCCCTCCAGCTCCACTCAGGAAGAGGAGTCGGAAGTGCATTTCAAG
ATCTCGGGAGAAAAGAGACCTTCAGCCGACCCAGGAAAAAAGGCCAAGAACCCGAAGAAGAAGAAAAAGAAGGACCCCAATGAGCCGCAGAAGCCTGTGTCGGCC
TACGCACTCTTCTTCAGAGACACTCAGGCCGCCATCAAGGGTCAGAACCCCAGTGCCACTTTCGGTGACGTGTCCAAAATCGTGGCCTCCATGTGGGACAGCCTG
GGAGAGGAACAGAAGCAGGCCTACAAGAGGAAGACAGAAGCAGCAAAGAAGGAATATCTGAAGGCCCTGGCAGCCTACCGGGCTAGCCTCGTCTCCAAGAGCTCC
CCAGATCAAGGTGAGACCAAGAGCACTCAGGCAAACCCACCAGCCAAAATGCTCCCACCCAAGCAGCCCATGTATGCCATGCCAGGCCTGGCCTCCTTCCTGACG
CCGTCGGACCTGCAGGCCTTCCGCAGTGGGGCCTCCCCTGCCAGCCTCGCCCGGACGCTGGGCTCCAAGTCTCTGCTGCCAGGCCTCAGTGCGTCCCCGCCGCCG
CCACCCTCCTTCCCGCTCAGCCCCACACTGCACCAGCAGCTGTCACTGCCCCCTCACGCCCAGGGCGCCCTCCTCAGTCCACCTGTTAGCATGTCCCCAGCCCCC
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>TOX2|84969|protein
MSDGNPELLSTSQTYNGQSENNEDYEIPPITPPNLPEPSLLHLGDHEASYHSLCHGLTPNGLLPAYSYQAMDLPAIMVSNMLAQDSHLLSGQLPTIQEMVHSEVA
AYDSGRPGPLLGRPAMLASHMSALSQSQLISQMGIRSSIAHSSPSPPGSKSATPSPSSSTQEEESEVHFKISGEKRPSADPGKKAKNPKKKKKKDPNEPQKPVSA
YALFFRDTQAAIKGQNPSATFGDVSKIVASMWDSLGEEQKQAYKRKTEAAKKEYLKALAAYRASLVSKSSPDQGETKSTQANPPAKMLPPKQPMYAMPGLASFLT
PSDLQAFRSGASPASLARTLGSKSLLPGLSASPPPPPSFPLSPTLHQQLSLPPHAQGALLSPPVSMSPAPQPPVLPTPMALQVQLAMSPSPPGPQDFPHISEFPS
SSGSCSPGPSNPTSSGDWDSSYPSGECGISTCSLLPRDKSLYLT
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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) 0 (0) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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