AutismKB 2.0

Evidence Details for TBX18


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Basic Information Top
Gene Symbol:TBX18 ( - )
Gene Full Name: T-box 18
Band: 6q14.3
Quick LinksEntrez ID:9096; OMIM: 604613; Uniprot ID:TBX18_HUMAN; ENSEMBL ID: ENSG00000112837; HGNC ID: 11595
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TBX18|9096|nucleotide
ATGGCCGAGAAGCGAAGGGGCTCGCCGTGCAGCATGCTAAGCCTCAAGGCGCACGCTTTCTCGGTGGAGGCGCTGATCGGCGCCGAGAAGCAGCAACAGCTTCAG
AAGAAGCGGCGAAAACTGGGCGCCGAAGAGGCGGCGGGGGCCGTGGACGACGGAGGCTGCAGCCGCGGCGGCGGCGCGGGCGAAAAGGGTTCTTCTGAGGGAGAC
GAAGGCGCTGCGCTCCCGCCGCCGGCTGGGGCGACGTCTGGGCCGGCTCGGAGTGGCGCAGACCTGGAGCGCGGAGCCGCGGGCGGCTGTGAGGACGGCTTCCAG
CAGGGAGCTTCCCCTCTGGCGTCACCGGGAGGCTCCCCCAAGGGGTCTCCGGCGCGCTCCCTGGCCCGGCCCGGGACCCCTCTGCCCTCGCCGCAGGCCCCGCGG
GTGGATCTGCAGGGAGCCGAGCTCTGGAAGCGCTTTCATGAGATAGGCACTGAGATGATCATCACCAAGGCCGGCAGGCGCATGTTTCCAGCAATGAGAGTGAAG
ATCTCTGGATTAGATCCTCACCAGCAATATTACATTGCCATGGATATTGTACCAGTGGACAACAAAAGATACAGGTATGTTTACCACAGTTCGAAATGGATGGTG
GCAGGTAATGCTGACTCGCCTGTGCCACCCCGTGTGTACATTCATCCAGACTCGCCTGCCTCGGGGGAGACTTGGATGAGACAAGTTATCAGCTTCGACAAGCTG
AAGCTCACCAACAATGAACTGGATGACCAAGGCCATATTATTCTTCATTCTATGCACAAATACCAACCGCGAGTGCACGTCATCCGTAAAGACTGTGGAGACGAT
CTTTCTCCCATCAAGCCTGTTCCATCCGGGGAGGGAGTAAAGGCATTCTCCTTTCCAGAAACTGTCTTCACAACCGTCACTGCCTATCAGAATCAGCAGATTACT
CGCCTGAAGATAGATAGGAATCCATTTGCTAAAGGCTTCCGAGACTCCGGGCGCAACAGAATGGGTTTGGAAGCCTTGGTGGAATCATATGCATTCTGGCGACCA
TCACTACGGACTCTGACCTTTGAAGATATCCCTGGAATTCCCAAGCAAGGCAATGCAAGTTCCTCCACCTTGCTCCAAGGTACTGGGAATGGCGTTCCTGCCACT
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>TBX18|9096|protein
MAEKRRGSPCSMLSLKAHAFSVEALIGAEKQQQLQKKRRKLGAEEAAGAVDDGGCSRGGGAGEKGSSEGDEGAALPPPAGATSGPARSGADLERGAAGGCEDGFQ
QGASPLASPGGSPKGSPARSLARPGTPLPSPQAPRVDLQGAELWKRFHEIGTEMIITKAGRRMFPAMRVKISGLDPHQQYYIAMDIVPVDNKRYRYVYHSSKWMV
AGNADSPVPPRVYIHPDSPASGETWMRQVISFDKLKLTNNELDDQGHIILHSMHKYQPRVHVIRKDCGDDLSPIKPVPSGEGVKAFSFPETVFTTVTAYQNQQIT
RLKIDRNPFAKGFRDSGRNRMGLEALVESYAFWRPSLRTLTFEDIPGIPKQGNASSSTLLQGTGNGVPATHPHLLSGSSCSSPAFHLGPNTSQLCSLAPADYSAC
ARSGLTLNRYSTSLAETYNRLTNQAGETFAPPRTPSYVGVSSSTSVNMSMGGTDGDTFSCPQTSLSMQISGMSPQLQYIMPSPSSNAFATNQTHQGSYNTFRLHS
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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 (1) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 4 (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
Quintela I, 2015 - ---autistic disorder - - - - 1 - 1
Linkage Studies Top