AutismKB 2.0

Evidence Details for DDX27


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Basic Information Top
Gene Symbol:DDX27 ( DKFZp667N057,DRS1,FLJ12917,FLJ20596,FLJ22238,MGC1018,MGC163147,PP3241,RHLP,Rrp3p,dJ686N3.1 )
Gene Full Name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 27
Band: 20q13.13
Quick LinksEntrez ID:55661; OMIM: NA; Uniprot ID:DDX27_HUMAN; ENSEMBL ID: ENSG00000124228; HGNC ID: 15837
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DDX27|55661|nucleotide
ATGGTACTTGCGCAAAGACGACGAGGAGGCTGCGAAAAGTTAAGGGCCGGACCGCAGGCTGTGCTCGCTTCCGGAAGTGGCTTCTGCGACAACATGCTTGCGGAC
CTCGGCTTAATCGGAACCATAGGCGAGGATGACGAGGTGCCGGTGGAGCCCGAGTCTGACTCCGGGGACGAGGAAGAGGAGGGGCCCATTGTGCTGGGCAGACGA
CAAAAAGCTTTGGGGAAGAACCGCAGTGCTGATTTCAACCCTGATTTCGTTTTCACTGAGAAGGAGGGGACGTACGATGGCAGCTGGGCCCTGGCTGATGTCATG
AGCCAACTCAAGAAGAAGAGGGCAGCCACTACATTAGATGAGAAGATTGAGAAAGTTCGAAAGAAAAGGAAAACAGAGGATAAAGAAGCCAAGTCTGGGAAGTTG
GAAAAGGAGAAAGAAGCAAAGGAAGGCTCTGAACCAAAGGAGCAGGAAGACCTTCAAGAGAATGATGAGGAAGGCTCAGAAGATGAAGCCTCGGAGACTGACTAC
TCATCAGCTGATGAGAACATCCTCACCAAAGCAGATACACTCAAAGTAAAGGATCGGAAGAAGAAGAAGAAGAAAGGACAGGAAGCAGGAGGATTTTTTGAAGAT
GCATCTCAGTACGATGAAAACCTCTCGTTCCAGGACATGAACCTTTCCCGCCCTCTTCTGAAGGCCATTACAGCCATGGGCTTCAAGCAGCCCACCCCGATCCAG
AAGGCGTGCATACCTGTGGGTCTATTGGGGAAGGACATCTGTGCCTGTGCAGCCACTGGGACAGGTAAAACTGCCGCCTTTGCCCTGCCTGTTTTGGAGCGTCTG
ATTTATAAACCCCGCCAGGCTCCAGTCACCCGCGTGCTGGTGCTAGTGCCCACCCGAGAGCTGGGCATCCAGGTGCACTCTGTCACCAGACAGCTGGCCCAGTTC
TGCAACATCACCACCTGCCTGGCTGTGGGCGGCTTGGATGTGAAGTCTCAGGAAGCAGCTCTTCGGGCAGCGCCTGACATCCTCATCGCCACCCCAGGCCGGCTC
ATCGATCACCTCCACAACTGCCCTTCCTTCCACCTGAGCAGCATCGAGGTGCTCATCCTGGACGAGGCTGACAGGATGCTGGATGAGTACTTTGAGGAGCAGATG
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>DDX27|55661|protein
MVLAQRRRGGCEKLRAGPQAVLASGSGFCDNMLADLGLIGTIGEDDEVPVEPESDSGDEEEEGPIVLGRRQKALGKNRSADFNPDFVFTEKEGTYDGSWALADVM
SQLKKKRAATTLDEKIEKVRKKRKTEDKEAKSGKLEKEKEAKEGSEPKEQEDLQENDEEGSEDEASETDYSSADENILTKADTLKVKDRKKKKKKGQEAGGFFED
ASQYDENLSFQDMNLSRPLLKAITAMGFKQPTPIQKACIPVGLLGKDICACAATGTGKTAAFALPVLERLIYKPRQAPVTRVLVLVPTRELGIQVHSVTRQLAQF
CNITTCLAVGGLDVKSQEAALRAAPDILIATPGRLIDHLHNCPSFHLSSIEVLILDEADRMLDEYFEEQMKEIIRMCSHHRQTMLFSATMTDEVKDLASVSLKNP
VRIFVNSNTDVAPFLRQEFIRIRPNREGDREAIVAALLTRTFTDHVMLFTQTKKQAHRMHILLGLMGLQVGELHGNLSQTQRLEALRRFKDEQIDILVATDVAAR
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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
NGS Mosaic SNV Studies Top
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.

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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