Evidence Details for TUBB3
Basic Information Top
Gene Symbol: | TUBB3 ( CFEOM3A,TUBB4,beta-4 ) |
---|---|
Gene Full Name: | tubulin, beta 3 |
Band: | 16q24.3 |
Quick Links | Entrez ID:10381; OMIM: 602661; Uniprot ID:TBB3_HUMAN; ENSEMBL ID: ENSG00000198211; HGNC ID: 20772 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>TUBB3|10381|nucleotide
ATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACG
GAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGC
ACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGAC
ACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTC
CGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAAC
GCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGG
GCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTC
CGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCC
GTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCC
ATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTAC
CAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGA
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ATGGACAGTGTCCGCTCAGGGGCCTTTGGACATCTCTTCAGGCCTGACAATTTCATCTTTGGTCAGAGTGGGGCCGGCAACAACTGGGCCAAGGGTCACTACACG
GAGGGGGCGGAGCTGGTGGATTCGGTCCTGGATGTGGTGCGGAAGGAGTGTGAAAACTGCGACTGCCTGCAGGGCTTCCAGCTGACCCACTCGCTGGGGGGCGGC
ACGGGCTCCGGCATGGGCACGTTGCTCATCAGCAAGGTGCGTGAGGAGTATCCCGACCGCATCATGAACACCTTCAGCGTCGTGCCCTCACCCAAGGTGTCAGAC
ACGGTGGTGGAGCCCTACAACGCCACGCTGTCCATCCACCAGCTGGTGGAGAACACGGATGAGACCTACTGCATCGACAACGAGGCGCTCTACGACATCTGCTTC
CGCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGGCCACCATGAGCGGAGTCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAAC
GCTGACCTGCGCAAGCTGGCCGTCAACATGGTGCCCTTCCCGCGCCTGCACTTCTTCATGCCCGGCTTCGCCCCCCTCACAGCCCGGGGCAGCCAGCAGTACCGG
GCCCTGACCGTGCCCGAGCTCACCCAGCAGATGTTCGATGCCAAGAACATGATGGCCGCCTGCGACCCGCGCCACGGCCGCTACCTGACGGTGGCCACCGTGTTC
CGGGGCCGCATGTCCATGAAGGAGGTGGACGAGCAGATGCTGGCCATCCAGAGCAAGAACAGCAGCTACTTCGTGGAGTGGATCCCCAACAACGTGAAGGTGGCC
GTGTGTGACATCCCGCCCCGCGGCCTCAAGATGTCCTCCACCTTCATCGGGAACAGCACGGCCATCCAGGAGCTGTTCAAGCGCATCTCCGAGCAGTTCACGGCC
ATGTTCCGGCGCAAGGCCTTCCTGCACTGGTACACGGGCGAGGGCATGGACGAGATGGAGTTCACCGAGGCCGAGAGCAACATGAACGACCTGGTGTCCGAGTAC
CAGCAGTACCAGGACGCCACGGCCGAGGAAGAGGGCGAGATGTACGAAGACGACGAGGAGGAGTCGGAGGCCCAGGGCCCCAAGTGA
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>TUBB3|10381|protein
MDSVRSGAFGHLFRPDNFIFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKECENCDCLQGFQLTHSLGGGTGSGMGTLLISKVREEYPDRIMNTFSVVPSPKVSD
TVVEPYNATLSIHQLVENTDETYCIDNEALYDICFRTLKLATPTYGDLNHLVSATMSGVTTSLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTARGSQQYR
ALTVPELTQQMFDAKNMMAACDPRHGRYLTVATVFRGRMSMKEVDEQMLAIQSKNSSYFVEWIPNNVKVAVCDIPPRGLKMSSTFIGNSTAIQELFKRISEQFTA
MFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEGEMYEDDEEESEAQGPK
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MDSVRSGAFGHLFRPDNFIFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKECENCDCLQGFQLTHSLGGGTGSGMGTLLISKVREEYPDRIMNTFSVVPSPKVSD
TVVEPYNATLSIHQLVENTDETYCIDNEALYDICFRTLKLATPTYGDLNHLVSATMSGVTTSLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTARGSQQYR
ALTVPELTQQMFDAKNMMAACDPRHGRYLTVATVFRGRMSMKEVDEQMLAIQSKNSSYFVEWIPNNVKVAVCDIPPRGLKMSSTFIGNSTAIQELFKRISEQFTA
MFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEGEMYEDDEEESEAQGPK
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (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 | ||||||
Berkel, 2010 | Canada | SNP microarray | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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