AutismKB 2.0

Evidence Details for TBX4


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Basic Information Top
Gene Symbol:TBX4 ( SPS )
Gene Full Name: T-box 4
Band: 17q23.2
Quick LinksEntrez ID:9496; OMIM: 601719; Uniprot ID:TBX4_HUMAN; ENSEMBL ID: ENSG00000121075; HGNC ID: 11603
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TBX4|9496|nucleotide
ATGCTGCAGGATAAGGGCCTGTCCGAGAGCGAGGAGGCCTTCCGGGCCCCGGGCCCAGCGCTCGGAGAGGCCAGCGCAGCCAACGCCCCCGAGCCCGCGCTGGCA
GCGCCGGGCCTCAGCGGAGCCGCGCTAGGCAGCCCCCCGGGACCCGGGGCCGACGTCGTCGCCGCCGCCGCCGCGGAGCAGACCATCGAGAACATCAAGGTGGGG
CTGCATGAGAAGGAGCTCTGGAAGAAGTTCCACGAGGCGGGCACCGAGATGATCATCACTAAGGCTGGCAGGAGGATGTTCCCCAGCTACAAGGTAAAAGTCACA
GGCATGAACCCCAAGACCAAGTATATCCTGCTGATTGACATTGTCCCTGCCGATGACCATCGCTACAAGTTCTGTGACAACAAATGGATGGTGGCAGGGAAGGCT
GAGCCAGCCATGCCAGGAAGGCTGTATGTCCACCCGGATTCTCCTGCCACAGGAGCCCACTGGATGCGGCAGCTGGTCTCCTTCCAGAAGCTGAAGCTGACAAAC
AACCACCTGGACCCCTTTGGCCATATCATCCTCAACTCTATGCACAAGTACCAGCCGCGGCTCCACATCGTTAAGGCTGATGAGAACAATGCTTTCGGCTCCAAA
AACACTGCTTTCTGCACCCACGTGTTCCCAGAGACCTCCTTCATCTCTGTGACCTCCTACCAGAATCACAAGATCACCCAGCTGAAAATTGAGAACAACCCTTTT
GCCAAGGGATTCCGGGGCAGTGATGACAGTGACCTGCGTGTGGCCCGACTGCAGAGCAAAGAATACCCCGTGATTTCCAAAAGCATCATGAGGCAGAGGCTCATC
TCCCCCCAGCTCTCAGCCACACCGGACGTGGGCCCCCTGCTCGGCACCCACCAGGCACTCCAGCACTACCAGCACGAGAACGGGGCACACTCACAGCTCGCGGAG
CCGCAGGACCTGCCCCTCAGCACCTTTCCCACCCAGAGGGACTCAAGCCTCTTCTATCACTGCCTGAAAAGACGAGACGGTACCCGCCACCTGGACTTACCTTGC
AAGCGATCCTATCTGGAAGCCCCCTCTTCGGTGGGGGAGGATCACTATTTCCGTTCCCCCCCTCCCTACGACCAGCAAATGCTGAGCCCCTCCTACTGCAGTGAG
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>TBX4|9496|protein
MLQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIENIKVGLHEKELWKKFHEAGTEMIITKAGRRMFPSYKVKVT
GMNPKTKYILLIDIVPADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQPRLHIVKADENNAFGSK
NTAFCTHVFPETSFISVTSYQNHKITQLKIENNPFAKGFRGSDDSDLRVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAE
PQDLPLSTFPTQRDSSLFYHCLKRRDGTRHLDLPCKRSYLEAPSSVGEDHYFRSPPPYDQQMLSPSYCSEVTPREACMYSGSGPEIAGVSGVDDLPPPPLSCNMW
TSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQSQVRERGPSASFPRERGLPQGCERKPPSPHLNAANEFLYSQTFSLS
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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) 1 (3) 0 (0) 0 (0) 0 (0) 14 (5)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top