Evidence Details for TECTA
Basic Information Top
Gene Symbol: | TECTA ( DFNA12,DFNA8,DFNB21 ) |
---|---|
Gene Full Name: | tectorin alpha |
Band: | 11q23.3 |
Quick Links | Entrez ID:7007; OMIM: 602574; Uniprot ID:TECTA_HUMAN; ENSEMBL ID: ENSG00000109927; HGNC ID: 11720 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>TECTA|7007|nucleotide
ATGAATTATTCATCATTCCTTAGAATTTGGGTCTCTTTCATCTTCGCACTTGTACAGCACCAAGCTCAGCCCAGGGAGCTCATGTATCCATTTTGGCAGAATGAC
ACCAAAACCCCTAAAGTAGATGATGGAAGCTCATCTGAGATTAAGTTGGCCATCCCAGTTTTCTTCTTTGGCGTTCCTTACCGCACTGTCTATGTCAATAACAAC
GGAGTTGTTTCCTTCAATGTGCTAGTGAGCCAGTTCACGCCAGAATCCTTTCCCCTGACAGATGGGAGAGCCTTCGTCGCCCCATTTTGGGCAGATGTGCACAAT
GGAATTCGAGGCGAGATCTATTACAGAGAGACCATGGAGCCTGCCATCTTGAAAAGAGCCACCAAGGACATCAGGAAGTACTTCAAAGACATGGCAACCTTCTCT
GCCACTTGGGTTTTCATTGTGACATGGGAGGAAGTCACGTTTTATGGAGGCAGCAGCACCACACCTGTGAACACCTTCCAGGCCGTCCTAGTGTCCGATGGCTCC
TATACATTCACCCTCTTCAATTATTACGAAATCAACTGGACCACGGGGACGGCGAGTGGCGGCGACCCCCTGACAGGTCTTGGTGGAGTGATGGCACAGGCAGGA
TTTAATGGTGGAAACCTCACCAATTTCTTCAGCCTCCCGGGGTCAAGAACCCCCGAGATCGTGAATATCCAGGAGACCACAAACGTCAATGTTCCAGGCCGCTGG
GCATTTAAAGTTGATGGAAAGGAAATTGACCCAGCCAATGGCTGCACCTCAAGGGGACAATTCCTTCGGCGAGGGGAGGTGTTTTGGGATGACTTGAACTGCACC
GTCAAGTGCCGCTGTCTGGATTTCAACAATGAGATCTACTGCCAGGAGGCTTCCTGTAGCCCCTACGAGGTGTGCGAACCCAAAGGCAAATTCTTCTACTGCAGC
GCTGTGGAGACCAGCACATGCGTGGTGTTTGGGGAGCCACACTACCACACTTTTGACGGCTTCCTCTTCCACTTCCAAGGCTCCTGTGCCTACTTGCTGGCCCGA
CAGTGTTTGCAGACTTCCAGCCTCCCTTTCTTCAGTGTGGAGGCCAAGAATGAACACCGCAGAGGTTCAGCCGTCTCCTGGGTGAAGGAGCTCTCAGTGGAGGTG
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ATGAATTATTCATCATTCCTTAGAATTTGGGTCTCTTTCATCTTCGCACTTGTACAGCACCAAGCTCAGCCCAGGGAGCTCATGTATCCATTTTGGCAGAATGAC
ACCAAAACCCCTAAAGTAGATGATGGAAGCTCATCTGAGATTAAGTTGGCCATCCCAGTTTTCTTCTTTGGCGTTCCTTACCGCACTGTCTATGTCAATAACAAC
GGAGTTGTTTCCTTCAATGTGCTAGTGAGCCAGTTCACGCCAGAATCCTTTCCCCTGACAGATGGGAGAGCCTTCGTCGCCCCATTTTGGGCAGATGTGCACAAT
GGAATTCGAGGCGAGATCTATTACAGAGAGACCATGGAGCCTGCCATCTTGAAAAGAGCCACCAAGGACATCAGGAAGTACTTCAAAGACATGGCAACCTTCTCT
GCCACTTGGGTTTTCATTGTGACATGGGAGGAAGTCACGTTTTATGGAGGCAGCAGCACCACACCTGTGAACACCTTCCAGGCCGTCCTAGTGTCCGATGGCTCC
TATACATTCACCCTCTTCAATTATTACGAAATCAACTGGACCACGGGGACGGCGAGTGGCGGCGACCCCCTGACAGGTCTTGGTGGAGTGATGGCACAGGCAGGA
TTTAATGGTGGAAACCTCACCAATTTCTTCAGCCTCCCGGGGTCAAGAACCCCCGAGATCGTGAATATCCAGGAGACCACAAACGTCAATGTTCCAGGCCGCTGG
GCATTTAAAGTTGATGGAAAGGAAATTGACCCAGCCAATGGCTGCACCTCAAGGGGACAATTCCTTCGGCGAGGGGAGGTGTTTTGGGATGACTTGAACTGCACC
GTCAAGTGCCGCTGTCTGGATTTCAACAATGAGATCTACTGCCAGGAGGCTTCCTGTAGCCCCTACGAGGTGTGCGAACCCAAAGGCAAATTCTTCTACTGCAGC
GCTGTGGAGACCAGCACATGCGTGGTGTTTGGGGAGCCACACTACCACACTTTTGACGGCTTCCTCTTCCACTTCCAAGGCTCCTGTGCCTACTTGCTGGCCCGA
CAGTGTTTGCAGACTTCCAGCCTCCCTTTCTTCAGTGTGGAGGCCAAGAATGAACACCGCAGAGGTTCAGCCGTCTCCTGGGTGAAGGAGCTCTCAGTGGAGGTG
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>TECTA|7007|protein
MNYSSFLRIWVSFIFALVQHQAQPRELMYPFWQNDTKTPKVDDGSSSEIKLAIPVFFFGVPYRTVYVNNNGVVSFNVLVSQFTPESFPLTDGRAFVAPFWADVHN
GIRGEIYYRETMEPAILKRATKDIRKYFKDMATFSATWVFIVTWEEVTFYGGSSTTPVNTFQAVLVSDGSYTFTLFNYYEINWTTGTASGGDPLTGLGGVMAQAG
FNGGNLTNFFSLPGSRTPEIVNIQETTNVNVPGRWAFKVDGKEIDPANGCTSRGQFLRRGEVFWDDLNCTVKCRCLDFNNEIYCQEASCSPYEVCEPKGKFFYCS
AVETSTCVVFGEPHYHTFDGFLFHFQGSCAYLLARQCLQTSSLPFFSVEAKNEHRRGSAVSWVKELSVEVNGYKILIPKGSYGRVKVNDLVTSLPVTLDLGTVKI
YQSGISTAVETDFGLLVTFDGQHYASISVPGSYINSTCGLCGNYNKNPLDDFLRPDGRPAMSVLDLGESWRVYHADWKCDSGCVDNCTQCDAATEALYFGSDYCG
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MNYSSFLRIWVSFIFALVQHQAQPRELMYPFWQNDTKTPKVDDGSSSEIKLAIPVFFFGVPYRTVYVNNNGVVSFNVLVSQFTPESFPLTDGRAFVAPFWADVHN
GIRGEIYYRETMEPAILKRATKDIRKYFKDMATFSATWVFIVTWEEVTFYGGSSTTPVNTFQAVLVSDGSYTFTLFNYYEINWTTGTASGGDPLTGLGGVMAQAG
FNGGNLTNFFSLPGSRTPEIVNIQETTNVNVPGRWAFKVDGKEIDPANGCTSRGQFLRRGEVFWDDLNCTVKCRCLDFNNEIYCQEASCSPYEVCEPKGKFFYCS
AVETSTCVVFGEPHYHTFDGFLFHFQGSCAYLLARQCLQTSSLPFFSVEAKNEHRRGSAVSWVKELSVEVNGYKILIPKGSYGRVKVNDLVTSLPVTLDLGTVKI
YQSGISTAVETDFGLLVTFDGQHYASISVPGSYINSTCGLCGNYNKNPLDDFLRPDGRPAMSVLDLGESWRVYHADWKCDSGCVDNCTQCDAATEALYFGSDYCG
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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) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (3) | 0 (1) | 0 (1) | 0 (0) | 0 (6) |
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 | ||||||
Szatmari, 2007 | Europe, North America | SNP microarray | ASD | 1491 | - | - | - | - | - | 0 |
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 |
---|---|---|---|---|
Sanders SJ, 2012 | - | 238 | 172 | De novo mutations revealed by whole-exome sequencing are strongly associated with autism. |
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
Reference | Case Number | Family Number | Mosaic Number | Title |
---|---|---|---|---|
Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Toma C, 2014 | - | Illumina HiSeq 2000 | - | - | ASD | 10 | - | - | 21 | - |
Low Scale Gene Studies Top
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