AutismKB 2.0

Evidence Details for DDX60


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Basic Information Top
Gene Symbol:DDX60 ( FLJ10787,FLJ20035 )
Gene Full Name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 60
Band: 4q32.3
Quick LinksEntrez ID:55601; OMIM: NA; Uniprot ID:DDX60_HUMAN; ENSEMBL ID: ENSG00000137628; HGNC ID: 25942
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DDX60|55601|nucleotide
ATGGAAAGAAATGTTCTTACAACATTTTCACAGGAAATGTCCCAGTTAATTTTGAATGAAATGCCAAAAGCTGAATATTCCAGTTTATTCAATGATTTTGTTGAA
TCTGAATTTTTTTTGATTGATGGGGATTCATTACTTATCACATGTATCTGTGAGATATCATTTAAGCCTGGGCAGAACCTCCATTTCTTCTATCTGGTTGAACGC
TATCTTGTGGATCTTATTAGCAAAGGAGGACAATTCACCATAGTTTTCTTCAAGGATGCCGAGTATGCGTATTTCAACTTCCCTGAACTTCTTTCTTTGAGAACT
GCTTTAATTCTTCATCTTCAGAAGAATACCACCATTGATGTTCGAACAACATTTTCGAGATGCTTATCAAAAGAGTGGGGAAGTTTCTTGGAAGAGAGTTACCCA
TATTTCCTGATAGTTGCAGACGAAGGCCTGAACGATCTACAAACACAGCTTTTCAACTTTTTAATCATTCATTCTTGGGCAAGGAAGGTCAACGTTGTACTTTCC
TCAGGGCAAGAATCTGATGTTCTTTGCCTTTATGCATACCTTCTTCCAAGCATGTACAGACACCAGATTTTTTCCTGGAAGAATAAGCAGAACATTAAAGATGCT
TATACAACCCTGCTTAACCAGTTGGAAAGATTTAAGCTTTCAGCATTAGCACCTCTTTTTGGAAGTTTAAAATGGAATAATATTACGGAAGAGGCACACAAGACT
GTATCTCTGCTTACACAAGTCTGGCCAGAAGGATCTGACATTCGGCGTGTCTTTTGTGTTACTTCATGCTCATTATCTTTGAGAATGTACCATCGCTTTTTAGGA
AACAGAGAGCCCTCCTCTGGTCAGGAAACTGAGATCCAACAGGTGAACAGTAATTGCTTAACCCTGCAGGAGATGGAAGATTTGTGTAAACTGCATTGTCTCACT
GTGGTTTTTCTACTCCATCTGCCTCTTTCTCAAAGAGCTTGTGCTAGAGTCATCACTTCCCATTGGGCTGAGGACATGAAGCCTTTATTACAAATGAAAAAGTGG
TGTGAATATTTCATCTTAAGAAATATACATACTTTTGAATTTTGGAATCTGAATTTAATTCACCTTTCTGACTTAAATGATGAGCTTTTGTTGAAGAATATTGCT
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>DDX60|55601|protein
MERNVLTTFSQEMSQLILNEMPKAEYSSLFNDFVESEFFLIDGDSLLITCICEISFKPGQNLHFFYLVERYLVDLISKGGQFTIVFFKDAEYAYFNFPELLSLRT
ALILHLQKNTTIDVRTTFSRCLSKEWGSFLEESYPYFLIVADEGLNDLQTQLFNFLIIHSWARKVNVVLSSGQESDVLCLYAYLLPSMYRHQIFSWKNKQNIKDA
YTTLLNQLERFKLSALAPLFGSLKWNNITEEAHKTVSLLTQVWPEGSDIRRVFCVTSCSLSLRMYHRFLGNREPSSGQETEIQQVNSNCLTLQEMEDLCKLHCLT
VVFLLHLPLSQRACARVITSHWAEDMKPLLQMKKWCEYFILRNIHTFEFWNLNLIHLSDLNDELLLKNIAFYYENENVKGLHLNLGDTIMKDYEYLWNTVSKLVR
DFEVGQPFPLRTTKVCFLEKKPSPIKDSSNEMVPNLGFIPTSSFVVDKFAGDILKDLPFLKSDDPIVTSLVKQKEFDELVHWHSHKPLSDDYDRSRCQFDEKSRD
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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) 1 (1) 0 (0) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 4 (4)
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
Ramanathan, 2004 - STS mappingautism - - - - 1 - 1
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Spence, 2006 USA microsatellite-based genomic screenASD 133 - 133 - 280 - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
(35.00%)
-AD 22
(13.64%)
1.18 Up 0.127
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_1795181
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Krupp DR, 2017 - 2264 247 Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
NGS Other Studies Top
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