AutismKB 2.0

Evidence Details for TRAFD1


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Basic Information Top
Gene Symbol:TRAFD1 ( FLN29 )
Gene Full Name: TRAF-type zinc finger domain containing 1
Band: 12q24.13
Quick LinksEntrez ID:10906; OMIM: 613197; Uniprot ID:TRAD1_HUMAN; ENSEMBL ID: ENSG00000135148; HGNC ID: 24808
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TRAFD1|10906|nucleotide
ATGGCTGAATTTCTAGATGACCAGGAAACTCGACTGTGTGACAACTGCAAAAAAGAAATTCCTGTGTTTAACTTTACCATCCATGAGATCCACTGTCAAAGGAAC
ATTGGTATGTGTCCTACCTGTAAGGAACCATTTCCCAAATCTGACATGGAGACTCACATGGCTGCAGAACACTGTCAGGTGACCTGCAAATGTAACAAGAAGTTG
GAGAAGAGGCTGTTAAAGAAGCATGAGGAGACTGAGTGCCCTTTGCGGCTTGCTGTCTGCCAGCACTGTGATTTAGAACTTTCCATTCTCAAACTGAAGGAACAT
GAAGATTATTGTGGTGCCCGGACGGAACTATGTGGCAACTGTGGTCGCAATGTCCTTGTGAAAGATCTGAAGACTCACCCTGAAGTTTGTGGGAGAGAGGGGGAG
GAAAAGAGAAATGAGGTTGCCATACCTCCTAATGCATATGATGAATCTTGGGGTCAGGATGGAATCTGGATTGCATCCCAACTCCTCAGACAAATTGAGGCTCTG
GACCCACCCATGAGGCTGCCGCGAAGGCCCCTGAGAGCCTTTGAATCAGATGTTTTCCACAATAGAACTACCAACCAAAGGAACATTACAGCCCAGGTTTCAATT
CAGAATAATCTGTTTGAAGAACAAGAGAGGCAGGAAAGGAATAGAGGCCAACAGCCCCCCAAAGAGGGTGGTGAAGAGAGTGCAAACTTGGACTTCATGTTGGCC
CTAAGTCTGCAAAATGAAGGCCAAGCCTCCAGTGTGGCAGAGCAGGACTTCTGGAGGGCCGTATGTGAGGCCGACCAGTCTCATGGCGGTCCCAGGTCTCTCAGT
GACATAAAGGGTGCAGCTGACGAGATCATGTTGCCTTGTGAATTTTGTGAGGAGCTCTACCCAGAGGAACTGCTGATTGACCATCAGACAAGCTGTAACCCTTCA
CGTGCCTTACCTTCACTCAATACTGGCAGCTCTTCCCCCAGAGGGGTGGAGGAACCTGATGTCATCTTCCAGAACTTCTTGCAACAGGCTGCAAGTAACCAGTTA
GACTCTTTGATGGGCCTGAGCAATTCACACCCTGTGGAGGAGAGCATCATTATCCCATGTGAATTCTGTGGGGTACAGCTGGAAGAGGAGGTGCTGTTCCATCAC
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>TRAFD1|10906|protein
MAEFLDDQETRLCDNCKKEIPVFNFTIHEIHCQRNIGMCPTCKEPFPKSDMETHMAAEHCQVTCKCNKKLEKRLLKKHEETECPLRLAVCQHCDLELSILKLKEH
EDYCGARTELCGNCGRNVLVKDLKTHPEVCGREGEEKRNEVAIPPNAYDESWGQDGIWIASQLLRQIEALDPPMRLPRRPLRAFESDVFHNRTTNQRNITAQVSI
QNNLFEEQERQERNRGQQPPKEGGEESANLDFMLALSLQNEGQASSVAEQDFWRAVCEADQSHGGPRSLSDIKGAADEIMLPCEFCEELYPEELLIDHQTSCNPS
RALPSLNTGSSSPRGVEEPDVIFQNFLQQAASNQLDSLMGLSNSHPVEESIIIPCEFCGVQLEEEVLFHHQDQCDQRPATATNHVTEGIPRLDSQPQETSPELPR
RRVRHQGDLSSGYLDDTKQETANGPTSCLPPSRPINNMTATYNQLSRSTSGPRPGCQPSSPCVPKLSNSDSQDIQGRNRDSQNGAIAPGHVSVIRPPQNLYPENI
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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 (0) 0 (0) 0 (1) 0 (0) 0 (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
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
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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