AutismKB 2.0

Evidence Details for TET1


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Basic Information Top
Gene Symbol:TET1 ( CXXC6,FLJ10839,FLJ41442,KIAA1676,LCX,bA119F7.1 )
Gene Full Name: tet oncogene 1
Band: 10q21.3
Quick LinksEntrez ID:80312; OMIM: 607790; Uniprot ID:TET1_HUMAN; ENSEMBL ID: ENSG00000138336; HGNC ID: 29484
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TET1|80312|nucleotide
ATGTCTCGATCCCGCCATGCAAGGCCTTCCAGATTAGTCAGGAAGGAAGATGTAAACAAAAAAAAGAAAAACAGCCAACTACGAAAGACAACCAAGGGAGCCAAC
AAAAATGTGGCATCAGTCAAGACTTTAAGCCCTGGAAAATTAAAGCAATTAATTCAAGAAAGAGATGTTAAGAAAAAAACAGAACCTAAACCACCCGTGCCAGTC
AGAAGCCTTCTGACAAGAGCTGGAGCAGCACGCATGAATTTGGATAGGACTGAGGTTCTTTTTCAGAACCCAGAGTCCTTAACCTGCAATGGGTTTACAATGGCG
CTACGAAGCACCTCTCTTAGCAGGCGACTCTCCCAACCCCCACTGGTCGTAGCCAAATCCAAAAAGGTTCCACTTTCTAAGGGTTTAGAAAAGCAACATGATTGT
GATTATAAGATACTCCCTGCTTTGGGAGTAAAGCACTCAGAAAATGATTCGGTTCCAATGCAAGACACCCAAGTCCTTCCTGATATAGAGACTCTAATTGGTGTA
CAAAATCCCTCTTTACTTAAAGGTAAGAGCCAAGAGACAACTCAGTTTTGGTCCCAAAGAGTTGAGGATTCCAAGATCAATATCCCTACCCACAGTGGCCCTGCA
GCTGAGATCCTTCCTGGGCCACTGGAAGGGACACGCTGTGGTGAAGGACTATTCTCTGAAGAGACATTGAATGATACCAGTGGTTCCCCAAAAATGTTTGCTCAG
GACACAGTGTGTGCTCCTTTTCCCCAAAGAGCAACCCCCAAAGTTACCTCTCAAGGAAACCCCAGCATTCAGTTAGAAGAGTTGGGTTCACGAGTAGAATCTCTT
AAGTTATCTGATTCTTACCTGGATCCCATTAAAAGTGAACATGATTGCTACCCCACCTCCAGTCTTAATAAGGTTATACCTGACTTGAACCTTAGAAACTGCTTG
GCTCTTGGTGGGTCTACGTCTCCTACCTCTGTAATAAAATTCCTCTTGGCAGGCTCAAAACAAGCGACCCTTGGTGCTAAACCAGATCATCAAGAGGCCTTCGAA
GCTACTGCAAATCAACAGGAAGTTTCTGATACCACCTCTTTCCTAGGACAGGCCTTTGGTGCTATCCCACATCAATGGGAACTTCCTGGTGCTGACCCAGTTCAT
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>TET1|80312|protein
MSRSRHARPSRLVRKEDVNKKKKNSQLRKTTKGANKNVASVKTLSPGKLKQLIQERDVKKKTEPKPPVPVRSLLTRAGAARMNLDRTEVLFQNPESLTCNGFTMA
LRSTSLSRRLSQPPLVVAKSKKVPLSKGLEKQHDCDYKILPALGVKHSENDSVPMQDTQVLPDIETLIGVQNPSLLKGKSQETTQFWSQRVEDSKINIPTHSGPA
AEILPGPLEGTRCGEGLFSEETLNDTSGSPKMFAQDTVCAPFPQRATPKVTSQGNPSIQLEELGSRVESLKLSDSYLDPIKSEHDCYPTSSLNKVIPDLNLRNCL
ALGGSTSPTSVIKFLLAGSKQATLGAKPDHQEAFEATANQQEVSDTTSFLGQAFGAIPHQWELPGADPVHGEALGETPDLPEIPGAIPVQGEVFGTILDQQETLG
MSGSVVPDLPVFLPVPPNPIATFNAPSKWPEPQSTVSYGLAVQGAIQILPLGSGHTPQSSSNSEKNSLPPVMAISNVENEKQVHISFLPANTQGFPLAPERGLFH
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
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
Stark, 2010 Australia FISH, SNP microarrray--ASD 1 1 - - - - -
Nord, 2011 US aCGH--ASD - - - - 41 367 408
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.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
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