AutismKB 2.0

Evidence Details for TOB2


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Basic Information Top
Gene Symbol:TOB2 ( TOB4,TOBL,TROB2 )
Gene Full Name: transducer of ERBB2, 2
Band: 22q13.2
Quick LinksEntrez ID:10766; OMIM: 607396; Uniprot ID:TOB2_HUMAN; ENSEMBL ID: ENSG00000183864; HGNC ID: 11980
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TOB2|10766|nucleotide
ATGCAGCTAGAGATCAAAGTGGCCCTGAACTTCATCATCTCCTACTTGTACAACAAGCTGCCCCGGCGCCGGGCAGACCTGTTTGGGGAGGAGCTAGAGCGGCTT
TTGAAAAAGAAATATGAAGGCCACTGGTACCCTGAGAAGCCACTGAAAGGCTCTGGCTTCCGCTGTGTTCACATTGGGGAGATGGTGGACCCCGTGGTGGAGCTG
GCCGCCAAGCGGAGTGGCCTGGCGGTGGAAGATGTGCGGGCCAATGTGCCTGAGGAGCTGAGTGTCTGGATTGATCCCTTTGAGGTGTCCTACCAGATTGGTGAG
AAGGGAGCTGTGAAAGTGCTGTACCTGGATGACAGTGAGGGTTGCGGTGCCCCAGAGCTGGACAAGGAGATCAAGAGCAGCTTCAACCCTGACGCCCAGGTGTTC
GTGCCCATTGGCAGCCAGGACAGCTCCCTGTCCAACTCCCCATCGCCATCCTTTGGCCAGTCACCCAGCCCTACCTTCATTCCCCGCTCCGCTCAGCCCATCACC
TTCACCACCGCCTCCTTCGCTGCCACCAAATTTGGCTCCACTAAGATGAAGAAGGGGGGCGGGGCAGCAAGTGGTGGGGGTGTAGCCAGCAGTGGGGCGGGTGGC
CAGCAGCCACCACAGCAGCCTCGCATGGCCCGCTCACCCACCAACAGCCTGCTGAAGCACAAGAGCCTCTCTCTGTCTATGCATTCACTGAACTTCATCACGGCC
AACCCGGCCCCTCAGTCCCAGCTCTCACCCAATGCCAAGGAGTTCGTGTACAACGGTGGTGGCTCACCCAGCCTCTTCTTTGATGCGGCCGATGGCCAGGGCAGC
GGCACCCCAGGCCCGTTTGGAGGCAGTGGGGCTGGCACCTGCAACAGCAGCAGCTTTGACATGGCCCAGGTATTTGGAGGTGGTGCCAACAGCCTCTTCCTGGAG
AAGACACCCTTTGTGGAAGGCCTCAGCTACAACCTGAACACCATGCAGTATCCCAGCCAGCAGTTCCAGCCCGTGGTGCTGGCCAACTGA

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>TOB2|10766|protein
MQLEIKVALNFIISYLYNKLPRRRADLFGEELERLLKKKYEGHWYPEKPLKGSGFRCVHIGEMVDPVVELAAKRSGLAVEDVRANVPEELSVWIDPFEVSYQIGE
KGAVKVLYLDDSEGCGAPELDKEIKSSFNPDAQVFVPIGSQDSSLSNSPSPSFGQSPSPTFIPRSAQPITFTTASFAATKFGSTKMKKGGGAASGGGVASSGAGG
QQPPQQPRMARSPTNSLLKHKSLSLSMHSLNFITANPAPQSQLSPNAKEFVYNGGGSPSLFFDAADGQGSGTPGPFGGSGAGTCNSSSFDMAQVFGGGANSLFLE
KTPFVEGLSYNLNTMQYPSQQFQPVVLAN

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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) 1 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top