AutismKB 2.0

Evidence Details for TBX3


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Basic Information Top
Gene Symbol:TBX3 ( TBX3-ISO,UMS,XHL )
Gene Full Name: T-box 3
Band: 12q24.21
Quick LinksEntrez ID:6926; OMIM: 601621; Uniprot ID:TBX3_HUMAN; ENSEMBL ID: ENSG00000135111; HGNC ID: 11602
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TBX3|6926|nucleotide
ATGAGCCTCTCCATGAGAGATCCGGTCATTCCTGGGACAAGCATGGCCTACCATCCGTTCCTACCTCACCGGGCGCCGGACTTCGCCATGAGCGCGGTGCTGGGT
CACCAGCCGCCGTTCTTCCCCGCGCTGACGCTGCCTCCCAACGGCGCGGCGGCGCTCTCGCTGCCGGGCGCCCTGGCCAAGCCGATCATGGATCAATTGGTGGGG
GCGGCCGAGACCGGCATCCCGTTCTCCTCCCTGGGGCCCCAGGCGCATCTGAGGCCTTTGAAGACCATGGAGCCCGAAGAAGAGGTGGAGGACGACCCCAAGGTG
CACCTGGAGGCTAAAGAACTTTGGGATCAGTTTCACAAGCGGGGCACCGAGATGGTCATTACCAAGTCGGGAAGGCGAATGTTTCCTCCATTTAAAGTGAGATGT
TCTGGGCTGGATAAAAAAGCCAAATACATTTTATTGATGGACATTATAGCTGCTGATGACTGTCGTTATAAATTTCACAATTCTCGGTGGATGGTGGCTGGTAAG
GCCGACCCCGAAATGCCAAAGAGGATGTACATTCACCCGGACAGCCCCGCTACTGGGGAACAGTGGATGTCCAAAGTCGTCACTTTCCACAAACTGAAACTCACC
AACAACATTTCAGACAAACATGGATTTACTATATTGAACTCCATGCACAAATACCAGCCCCGGTTCCACATTGTAAGAGCCAATGACATCTTGAAACTCCCTTAT
AGTACATTTCGGACATACTTGTTCCCCGAAACTGAATTCATCGCTGTGACTGCATACCAGAATGATAAGATAACCCAGTTAAAAATAGACAACAACCCTTTTGCA
AAAGGTTTCCGGGACACTGGAAATGGCCGAAGAGAAAAAAGAAAACAGCTCACCCTGCAGTCCATGAGGGTGTTTGATGAAAGACACAAAAAGGAGAATGGGACC
TCTGATGAGTCCTCCAGTGAACAAGCAGCTTTCAACTGCTTCGCCCAGGCTTCTTCTCCAGCCGCCTCCACTGTAGGGACATCGAACCTCAAAGATTTATGTCCC
AGCGAGGGTGAGAGCGACGCCGAGGCCGAGAGCAAAGAGGAGCATGGCCCCGAGGCCTGCGACGCGGCCAAGATCTCCACCACCACGTCGGAGGAGCCCTGCCGT
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>TBX3|6926|protein
MSLSMRDPVIPGTSMAYHPFLPHRAPDFAMSAVLGHQPPFFPALTLPPNGAAALSLPGALAKPIMDQLVGAAETGIPFSSLGPQAHLRPLKTMEPEEEVEDDPKV
HLEAKELWDQFHKRGTEMVITKSGRRMFPPFKVRCSGLDKKAKYILLMDIIAADDCRYKFHNSRWMVAGKADPEMPKRMYIHPDSPATGEQWMSKVVTFHKLKLT
NNISDKHGFTILNSMHKYQPRFHIVRANDILKLPYSTFRTYLFPETEFIAVTAYQNDKITQLKIDNNPFAKGFRDTGNGRREKRKQLTLQSMRVFDERHKKENGT
SDESSSEQAAFNCFAQASSPAASTVGTSNLKDLCPSEGESDAEAESKEEHGPEACDAAKISTTTSEEPCRDKGSPAVKAHLFAAERPRDSGRLDKASPDSRHSPA
TISSSTRGLGAEERRSPVREGTAPAKVEEARALPGKEAFAPLTVQTDAAAAHLAQGPLPGLGFAPGLAGQQFFNGHPLFLHPSQFAMGGAFSSMAAAGMGPLLAT
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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) 0 (0) 0 (0) 0 (1) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top