AutismKB 2.0

Evidence Details for TDRD6


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Basic Information Top
Gene Symbol:TDRD6 ( CT41.2,DKFZp781I1148,FLJ43850,NY-CO-45,TDR2,bA446F17.4 )
Gene Full Name: tudor domain containing 6
Band: 6p12.3
Quick LinksEntrez ID:221400; OMIM: 611200; Uniprot ID:TDRD6_HUMAN; ENSEMBL ID: ENSG00000180113; HGNC ID: 21339
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TDRD6|221400|nucleotide
ATGTGCTCGACGCCCGGAATGCCGGCGCCGGGGGCCTCGCTGGCCCTGCGGGTGTCCTTCGTGGACGTGCATCCCGATGTGATCCCGGTGCAGCTGTGGGGGCTG
GTGGGCGAGCGGCGGGGCGAGTACCTGCGGCTGAGCCGGGAAATCCAGGAAGCGGCGGCCACGCGCGGCCAGTGGGCGCTGGGCAGCGCCTCGGCCTCGCCCGGC
GAGCTGTGCCTGGTGCAGGTCGGGCTTTTGTGGCACCGCTGCCGCGTGGTCAGCCGGCAGGCACAGGAGAGCCGTGTCTTCCTGCTGGACGAGGGCCGCACCATC
ACGGCCGGAGCAGGCTCGCTGGCGCCTGGGCGCAGAGAGTTCTTCAATTTGCCCTCGGAAGTGCTGGGCTGCGTGCTAGCGGGCCTGGTGCCGGCAGGCTGCGGC
GCGGGCTCAGGCGAGCCGCCGCAGCACTGGCCCGCCGACGCCGTGGACTTCCTTAGCAACCTTCAGGGCAAGGAGGTGCACGGGTGCGTCCTGGACGTGCTGCTG
CTCCATCGCCTGGTCCTCCTGGAGGTGCCTGATGTGTTCCAACAGATGCGGGAGCTGGGCCTGGCTCGGCGGGTGCCCGACAGCCTCTTCCGTTCGCTGCTGGAG
CGCTATCTCACAGCGGCCACTGCTAGCGTGGGCTCCGGGGTCCCGGTTCTCTCGCGAGTCCCGCTCAAGCAAAAGCAGCCTGGTCTGGATTACTTCTATCCCCAG
CTGCAGCTGGGCGTGACGGAGGCCGTGGTCATAACCCAAGTGTGCCATCCCCACCGCATTCACTGCCAGCTCCGCAGCGTCTCGCAGGAGATCCACCGCCTCTCC
GAGAGCATGGCCCAGGTATACCGGGGTTCCACGGGGACAGGGGATGAGAACTCTACCAGTGCCACCTGGGAGGAGAGGGAGGAGAGCCCAGATAAGCCGGGCTCT
CCGTGTGCATCCTGTGGCCTGGATGGACATTGGTACAGAGCACTGTTGCTTGAGACTTTTCGGCCCCAGCGCTGTGCCCAGGTGCTTCATGTGGACTATGGAAGG
AAGGAGTTAGTGAGTTGCAGCAGCCTTCGGTACTTGCTGCCTGAATATTTTCGAATGCCGGTGGTGACCTACCCTTGTGCTTTGTATGGACTCTGGGACGGTGGG
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>TDRD6|221400|protein
MCSTPGMPAPGASLALRVSFVDVHPDVIPVQLWGLVGERRGEYLRLSREIQEAAATRGQWALGSASASPGELCLVQVGLLWHRCRVVSRQAQESRVFLLDEGRTI
TAGAGSLAPGRREFFNLPSEVLGCVLAGLVPAGCGAGSGEPPQHWPADAVDFLSNLQGKEVHGCVLDVLLLHRLVLLEVPDVFQQMRELGLARRVPDSLFRSLLE
RYLTAATASVGSGVPVLSRVPLKQKQPGLDYFYPQLQLGVTEAVVITQVCHPHRIHCQLRSVSQEIHRLSESMAQVYRGSTGTGDENSTSATWEEREESPDKPGS
PCASCGLDGHWYRALLLETFRPQRCAQVLHVDYGRKELVSCSSLRYLLPEYFRMPVVTYPCALYGLWDGGRGWSRSQVGDLKTLILGKAVNAKIEFYCSFEHVYY
VSLYGEDGINLNRVFGVQSCCLADRVLQSQATEEEEPETSQSQSPAEEVDEEISLPALRSIRLKMNAFYDAQVEFVKNPSEFWIRLRKHNVTFSKLMRRMCGFYS
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Berkel, 2010 Canada SNP microarrayASD - - - - 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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Simple Query:


  (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