AutismKB 2.0

Evidence Details for TECTA


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Basic Information Top
Gene Symbol:TECTA ( DFNA12,DFNA8,DFNB21 )
Gene Full Name: tectorin alpha
Band: 11q23.3
Quick LinksEntrez 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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>TECTA|7007|protein
MNYSSFLRIWVSFIFALVQHQAQPRELMYPFWQNDTKTPKVDDGSSSEIKLAIPVFFFGVPYRTVYVNNNGVVSFNVLVSQFTPESFPLTDGRAFVAPFWADVHN
GIRGEIYYRETMEPAILKRATKDIRKYFKDMATFSATWVFIVTWEEVTFYGGSSTTPVNTFQAVLVSDGSYTFTLFNYYEINWTTGTASGGDPLTGLGGVMAQAG
FNGGNLTNFFSLPGSRTPEIVNIQETTNVNVPGRWAFKVDGKEIDPANGCTSRGQFLRRGEVFWDDLNCTVKCRCLDFNNEIYCQEASCSPYEVCEPKGKFFYCS
AVETSTCVVFGEPHYHTFDGFLFHFQGSCAYLLARQCLQTSSLPFFSVEAKNEHRRGSAVSWVKELSVEVNGYKILIPKGSYGRVKVNDLVTSLPVTLDLGTVKI
YQSGISTAVETDFGLLVTFDGQHYASISVPGSYINSTCGLCGNYNKNPLDDFLRPDGRPAMSVLDLGESWRVYHADWKCDSGCVDNCTQCDAATEALYFGSDYCG
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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) 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 microarrayASD 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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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018