AutismKB 2.0

Evidence Details for DCAF4


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Basic Information Top
Gene Symbol:DCAF4 ( DKFZp434K114,MGC20547,MGC46524,WDR21,WDR21A )
Gene Full Name: DDB1 and CUL4 associated factor 4
Band: 14q24.2
Quick LinksEntrez ID:26094; OMIM: NA; Uniprot ID:DCAF4_HUMAN; ENSEMBL ID: ENSG00000119599; HGNC ID: 20229
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DCAF4|26094|nucleotide
ATGAATAAAAGTCGCTGGCAGAGTAGAAGACGACATGGGAGAAGAAGCCACCAGCAGAACCCTTGGTTCAGACTCCGTGATTCTGAAGACAGGTCTGACTCCCGG
GCAGCACAGCCCGCTCACGATTCCGGCCACGGTGATGACGAGTCTCCGTCAACCTCGTCTGGCACAGCTGGGACCTCCTCTGTGCCAGAGCTACCTGGGTTTTAC
TTTGACCCTGAAAAGAAACGCTACTTCCGCTTGCTCCCTGGACATAACAACTGCAACCCCCTGACGAAAGAGAGCATCCGGCAGAAGGAGATGGAGAGCAAGAGA
CTGCGGCTGCTCCAGGAAGAAGACAGACGGAAAAAGATTGCCAGGATGGGATTTAATGCATCTTCCATGCTACGAAAAAGCCAGCTGGGTTTTCTCAACGTCACC
AATTACTGCCATTTAGCCCACGAGCTGCGTCTCAGCTGCATGGAGAGGAAAAAGGTCCAGATTCGAAGCATGGATCCCTCCGCCTTGGCAAGCGACCGATTTAAC
CTCATACTGGCAGATACCAACAGTGACCGGCTCTTCACAGTGAACGATGTTAAAGTTGGAGGCTCCAAGTATGGTATCATCAACCTGCAAAGTCTGAAGACCCCT
ACGCTCAAGGTGTTCATGCACGAAAACCTCTACTTCACCAACCGGAAGGTGAATTCGGTGTGCTGGGCCTCGCTGAATCACTTGGATTCCCACATTCTGCTATGC
CTCATGGGACTCGCAGAGACTCCAGGCTGTGCCACCCTGCTCCCAGCATCACTGTTCGTCAATAGTCACCCAGCAGGAATAGACCGGCCTGGCATGCTCTGCAGT
TTCCGGATCCCTGGTGCCTGGTCCTGTGCCTGGTCCCTGAATATCCAAGCAAATAACTGCTTCAGTACAGGCTTGTCTCGGCGGGTCCTGTTGACCAACGTGGTG
ACGGGACACCGGCAGTCCTTTGGGACCAACAGTGATGTCTTGGCTCCTCTGCTGTTTAATGGCTGCCGCTCTGGGGAAATCTTTGCCATTGATCTGCGTTGTGGA
AATCAAGGCAAGGGATGGAAGGCCACCCGCCTGTTTCATGATTCAGCAGTGACCTCTGTGCGGATCCTCCAAGATGAGCAATACCTGATGGCTTCAGACATGGCT
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>DCAF4|26094|protein
MNKSRWQSRRRHGRRSHQQNPWFRLRDSEDRSDSRAAQPAHDSGHGDDESPSTSSGTAGTSSVPELPGFYFDPEKKRYFRLLPGHNNCNPLTKESIRQKEMESKR
LRLLQEEDRRKKIARMGFNASSMLRKSQLGFLNVTNYCHLAHELRLSCMERKKVQIRSMDPSALASDRFNLILADTNSDRLFTVNDVKVGGSKYGIINLQSLKTP
TLKVFMHENLYFTNRKVNSVCWASLNHLDSHILLCLMGLAETPGCATLLPASLFVNSHPAGIDRPGMLCSFRIPGAWSCAWSLNIQANNCFSTGLSRRVLLTNVV
TGHRQSFGTNSDVLAPLLFNGCRSGEIFAIDLRCGNQGKGWKATRLFHDSAVTSVRILQDEQYLMASDMAGKIKLWDLRTTKCVRQYEGHVNEYAYLPLHVHEEE
GILVAVGQDCYTRIWSLHDARLLRTIPSPYPASKADIPSVAFSSRLGGSRGAPGLLMAVGQDLYCYSYS
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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) 1 (1) 0 (1) 0 (0) 0 (0) 10 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
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
Neale BM, 2012 175 175 173 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
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
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