AutismKB 2.0

Evidence Details for TBR1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:TBR1 ( MGC141978,TES-56 )
Gene Full Name: T-box, brain, 1
Band: 2q24.2
Quick LinksEntrez ID:10716; OMIM: 604616; Uniprot ID:TBR1_HUMAN; ENSEMBL ID: ENSG00000136535; HGNC ID: 11590
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TBR1|10716|nucleotide
ATGCAGCTGGAGCACTGCCTTTCTCCTTCTATCATGCTCTCCAAGAAATTTCTCAATGTGAGCAGCAGCTACCCACATTCAGGCGGATCCGAGCTTGTCTTGCAC
GATCATCCCATTATCTCGACCACTGACAACCTGGAGAGAAGTTCACCTTTGAAAAAAATTACCAGGGGGATGACGAATCAGTCAGATACAGACAATTTTCCTGAC
TCCAAGGACTCACCAGGGGACGTCCAGAGAAGTAAACTCTCTCCTGTCTTGGACGGGGTCTCTGAGCTTCGTCACAGTTTCGATGGCTCTGCTGCAGATCGCTAC
CTCCTCTCTCAGTCCAGCCAGCCACAGTCTGCGGCCACTGCTCCCAGTGCCATGTTCCCGTACCCCGGCCAGCACGGACCGGCGCACCCCGCCTTCTCCATCGGC
AGCCCTAGCCGCTACATGGCCCACCACCCGGTCATCACCAACGGAGCCTACAACAGCCTCCTGTCCAACTCCTCGCCGCAGGGATACCCCACGGCCGGCTACCCC
TACCCACAGCAGTACGGCCACTCCTACCAAGGAGCTCCGTTCTACCAGTTCTCCTCCACCCAGCCGGGGCTGGTGCCCGGCAAAGCACAGGTGTACCTGTGCAAC
AGGCCCCTTTGGCTGAAATTTCACCGGCACCAAACGGAGATGATCATCACCAAACAGGGAAGGCGCATGTTTCCTTTTTTAAGTTTTAACATTTCTGGTCTCGAT
CCCACGGCTCATTACAATATTTTTGTGGATGTGATTTTGGCGGATCCCAATCACTGGAGGTTTCAAGGAGGCAAATGGGTTCCTTGCGGCAAAGCGGACACCAAT
GTGCAAGGAAATCGGGTCTATATGCATCCGGATTCCCCCAACACTGGGGCTCACTGGATGCGCCAAGAAATCTCTTTTGGAAAATTAAAACTTACGAACAACAAA
GGAGCTTCAAATAACAATGGGCAGATGGTGGTTTTACAGTCCTTGCACAAGTACCAGCCCCGCCTGCATGTGGTGGAAGTGAACGAGGACGGCACGGAGGACACT
AGCCAGCCCGGCCGCGTGCAGACGTTCACTTTCCCTGAGACTCAGTTCATCGCCGTCACCGCCTACCAGAACACGGATATTACACAACTGAAAATAGATCACAAC
Show »

>TBR1|10716|protein
MQLEHCLSPSIMLSKKFLNVSSSYPHSGGSELVLHDHPIISTTDNLERSSPLKKITRGMTNQSDTDNFPDSKDSPGDVQRSKLSPVLDGVSELRHSFDGSAADRY
LLSQSSQPQSAATAPSAMFPYPGQHGPAHPAFSIGSPSRYMAHHPVITNGAYNSLLSNSSPQGYPTAGYPYPQQYGHSYQGAPFYQFSSTQPGLVPGKAQVYLCN
RPLWLKFHRHQTEMIITKQGRRMFPFLSFNISGLDPTAHYNIFVDVILADPNHWRFQGGKWVPCGKADTNVQGNRVYMHPDSPNTGAHWMRQEISFGKLKLTNNK
GASNNNGQMVVLQSLHKYQPRLHVVEVNEDGTEDTSQPGRVQTFTFPETQFIAVTAYQNTDITQLKIDHNPFAKGFRDNYDTIYTGCDMDRLTPSPNDSPRSQIV
PGARYAMAGSFLQDQFVSNYAKARFHPGAGAGPGPGTDRSVPHTNGLLSPQQAEDPGAPSPQRWFVTPANNRLDFAASAYDTATDFAGNAATLLSYAAAGVKALP
Show »

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 (0) 0 (1) 0 (0) 0 (0) 0 (0) 3 (8) 0 (0) 0 (0) 0 (0) 30 (9)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top