Evidence Details for TBX6
Basic Information Top
| Gene Symbol: | TBX6 ( DFNB67 ) |
|---|---|
| Gene Full Name: | T-box 6 |
| Band: | 16p11.2 |
| Quick Links | Entrez ID:6911; OMIM: 602427; Uniprot ID:TBX6_HUMAN; ENSEMBL ID: ENSG00000149922; HGNC ID: 11605 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TBX6|6911|nucleotide
ATGTACCATCCACGAGAATTGTACCCGTCCCTGGGGGCCGGCTACCGCCTGGGGCCCGCCCAACCTGGGGCCGACTCCAGCTTCCCACCCGCCCTAGCGGAGGGC
TACCGCTACCCCGAACTGGACACCCCTAAACTGGATTGCTTCCTCTCCGGGATGGAGGCTGCTCCCCGCACCCTGGCCGCGCACCCACCTCTGCCCCTTCTGCCC
CCTGCCATGGGCACTGAGCCGGCCCCATCAGCTCCAGAGGCCCTCCATTCCCTCCCGGGGGTCAGCCTGAGCCTGGAGAACCGGGAGCTATGGAAGGAGTTCAGC
TCTGTGGGAACAGAAATGATCATCACCAAAGCTGGGAGGCGCATGTTCCCTGCCTGCCGAGTGTCAGTCACTGGCCTGGACCCCGAGGCCCGCTACTTGTTTCTT
CTGGATGTGATTCCGGTGGATGGGGCTCGCTACCGCTGGCAGGGCCGGCGCTGGGAGCCCAGCGGCAAGGCAGAGCCCCGCCTGCCTGACCGTGTCTACATTCAC
CCCGACTCTCCTGCCACTGGTGCACATTGGATGCGGCAGCCTGTGTCTTTCCATCGTGTCAAGCTCACCAACAGCACGCTGGACCCCCACGGCCACCTGATCCTG
CACTCCATGCACAAGTACCAACCCCGCATACACCTAGTTCGGGCAGCCCAGCTCTGCAGCCAGCACTGGGGGGGCATGGCCTCCTTCCGCTTCCCCGAGACCACA
TTCATCTCCGTGACAGCCTACCAGAACCCACAGATCACACAACTGAAGATTGCAGCCAATCCCTTTGCCAAAGGCTTCCGGGAGAACGGCAGAAACTGTAAGAGG
GAGCGAGACGCCCGTGTGAAGAGGAAACTGCGGGGCCCAGAGCCAGCAGCCACAGAGGCCTATGGGAGCGGAGACACACCAGGTGGTCCCTGCGACTCCACCCTG
GGTGGAGACATTCGTGAATCAGATCCAGAACAGGCCCCAGCCCCCGGGGAAGCCACCGCTGCCCCGGCACCTCTGTGTGGTGGCCCCAGTGCTGAGGCCTACCTC
CTGCACCCTGCGGCTTTCCATGGGGCCCCCAGTCACCTTCCCACCAGGAGCCCCAGCTTCCCGGAGGCTCCAGACTCCGGGCGCTCAGCCCCCTACTCGGCTGCA
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ATGTACCATCCACGAGAATTGTACCCGTCCCTGGGGGCCGGCTACCGCCTGGGGCCCGCCCAACCTGGGGCCGACTCCAGCTTCCCACCCGCCCTAGCGGAGGGC
TACCGCTACCCCGAACTGGACACCCCTAAACTGGATTGCTTCCTCTCCGGGATGGAGGCTGCTCCCCGCACCCTGGCCGCGCACCCACCTCTGCCCCTTCTGCCC
CCTGCCATGGGCACTGAGCCGGCCCCATCAGCTCCAGAGGCCCTCCATTCCCTCCCGGGGGTCAGCCTGAGCCTGGAGAACCGGGAGCTATGGAAGGAGTTCAGC
TCTGTGGGAACAGAAATGATCATCACCAAAGCTGGGAGGCGCATGTTCCCTGCCTGCCGAGTGTCAGTCACTGGCCTGGACCCCGAGGCCCGCTACTTGTTTCTT
CTGGATGTGATTCCGGTGGATGGGGCTCGCTACCGCTGGCAGGGCCGGCGCTGGGAGCCCAGCGGCAAGGCAGAGCCCCGCCTGCCTGACCGTGTCTACATTCAC
CCCGACTCTCCTGCCACTGGTGCACATTGGATGCGGCAGCCTGTGTCTTTCCATCGTGTCAAGCTCACCAACAGCACGCTGGACCCCCACGGCCACCTGATCCTG
CACTCCATGCACAAGTACCAACCCCGCATACACCTAGTTCGGGCAGCCCAGCTCTGCAGCCAGCACTGGGGGGGCATGGCCTCCTTCCGCTTCCCCGAGACCACA
TTCATCTCCGTGACAGCCTACCAGAACCCACAGATCACACAACTGAAGATTGCAGCCAATCCCTTTGCCAAAGGCTTCCGGGAGAACGGCAGAAACTGTAAGAGG
GAGCGAGACGCCCGTGTGAAGAGGAAACTGCGGGGCCCAGAGCCAGCAGCCACAGAGGCCTATGGGAGCGGAGACACACCAGGTGGTCCCTGCGACTCCACCCTG
GGTGGAGACATTCGTGAATCAGATCCAGAACAGGCCCCAGCCCCCGGGGAAGCCACCGCTGCCCCGGCACCTCTGTGTGGTGGCCCCAGTGCTGAGGCCTACCTC
CTGCACCCTGCGGCTTTCCATGGGGCCCCCAGTCACCTTCCCACCAGGAGCCCCAGCTTCCCGGAGGCTCCAGACTCCGGGCGCTCAGCCCCCTACTCGGCTGCA
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>TBX6|6911|protein
MYHPRELYPSLGAGYRLGPAQPGADSSFPPALAEGYRYPELDTPKLDCFLSGMEAAPRTLAAHPPLPLLPPAMGTEPAPSAPEALHSLPGVSLSLENRELWKEFS
SVGTEMIITKAGRRMFPACRVSVTGLDPEARYLFLLDVIPVDGARYRWQGRRWEPSGKAEPRLPDRVYIHPDSPATGAHWMRQPVSFHRVKLTNSTLDPHGHLIL
HSMHKYQPRIHLVRAAQLCSQHWGGMASFRFPETTFISVTAYQNPQITQLKIAANPFAKGFRENGRNCKRERDARVKRKLRGPEPAATEAYGSGDTPGGPCDSTL
GGDIRESDPEQAPAPGEATAAPAPLCGGPSAEAYLLHPAAFHGAPSHLPTRSPSFPEAPDSGRSAPYSAAFLELPHGSGGSGYPAAPPAVPFAPHFLQGGPFPLP
YTAPGGYLDVGSKPMY
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MYHPRELYPSLGAGYRLGPAQPGADSSFPPALAEGYRYPELDTPKLDCFLSGMEAAPRTLAAHPPLPLLPPAMGTEPAPSAPEALHSLPGVSLSLENRELWKEFS
SVGTEMIITKAGRRMFPACRVSVTGLDPEARYLFLLDVIPVDGARYRWQGRRWEPSGKAEPRLPDRVYIHPDSPATGAHWMRQPVSFHRVKLTNSTLDPHGHLIL
HSMHKYQPRIHLVRAAQLCSQHWGGMASFRFPETTFISVTAYQNPQITQLKIAANPFAKGFRENGRNCKRERDARVKRKLRGPEPAATEAYGSGDTPGGPCDSTL
GGDIRESDPEQAPAPGEATAAPAPLCGGPSAEAYLLHPAAFHGAPSHLPTRSPSFPEAPDSGRSAPYSAAFLELPHGSGGSGYPAAPPAVPFAPHFLQGGPFPLP
YTAPGGYLDVGSKPMY
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Evidence summary TopClick 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) | 2 (15) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (15) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Finelli, 2004 | - | FISH |  | | autistic feature | - | - | - | - | 2 | - | 2 |
| Sebat, 2007 | USA | aCGH |  | | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 |
| Weiss, 2008 | USA, Ireland | aCGH, SNP microarray | | | ASD | 751 | - | - | - | 2252 | 23502 | 25754 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Kumar, 2008 | USA | aCGH | | | ASD | - | - | - | - | 712 | 837 | 1549 |
| Christian, 2008 | USA | aCGH | | | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Shen, 2010 | China | aCGH | | | ASD | 1 | 1 | - | - | - | - | - |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
| Shin S, 2015 | Korean | CMA | - | - | ASD | - | - | - | - | 96 | - | 96 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.