AutismKB 2.0

Evidence Details for DDX47


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Basic Information Top
Gene Symbol:DDX47 ( DKFZp564O176,E4-DBP,FLJ30012,HQ0256,MSTP162,RRP3 )
Gene Full Name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 47
Band: 12p13.1
Quick LinksEntrez ID:51202; OMIM: NA; Uniprot ID:DDX47_HUMAN; ENSEMBL ID: ENSG00000213782; HGNC ID: 18682
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DDX47|51202|nucleotide
ATGGCGGCACCCGAGGAACACGATTCTCCGACCGAAGCGTCCCAGCCGATTGTGGAAGAGGAGGAAACTAAAACATTTAAAGACCTGGGTGTGACAGATGTGTTG
TGTGAAGCTTGTGACCAGTTGGGATGGACAAAACCCACCAAGATCCAGATTGAAGCTATTCCTTTGGCCTTACAAGGTCGTGATATCATTGGGCTTGCAGAAACT
GGCTCTGGAAAGACAGGCGCCTTTGCTTTGCCCATTCTAAACGCACTGCTGGAGACCCCGCAGCGTTTGTTTGCCCTAGTTCTTACCCCGACTCGGGAGCTGGCC
TTTCAGATCTCAGAGCAGTTTGAAGCCCTGGGGTCCTCTATTGGAGTGCAGAGTGCTGTGATTGTAGGTGGAATTGATTCAATGTCTCAATCTTTGGCCCTTGCA
AAAAAACCACATATAATAATAGCAACTCCTGGTCGACTGATTGACCACTTGGAAAATACGAAAGGTTTCAACTTGAGAGCTCTCAAATACTTGGTCATGGATGAA
GCCGACCGAATACTGAATATGGATTTTGAGACAGAGGTTGACAAGATCCTCAAAGTGATTCCTCGAGATCGGAAAACATTCCTCTTCTCTGCCACCATGACCAAG
AAGGTTCAAAAACTTCAGCGAGCAGCTCTGAAGAATCCTGTGAAATGTGCCGTTTCCTCTAAATACCAGACAGTTGAAAAATTACAGCAATATTATATTTTTATT
CCCTCTAAATTCAAGGATACCTACCTGGTTTATATTCTAAATGAATTGGCTGGAAACTCCTTTATGATATTCTGCAGCACCTGTAATAATACCCAGAGAACAGCT
TTGCTACTGCGAAATCTTGGCTTCACTGCCATCCCCCTCCATGGACAAATGAGTCAGAGTAAGCGCCTAGGATCCCTTAATAAGTTTAAGGCCAAGGCCCGTTCC
ATTCTTCTAGCAACTGACGTTGCCAGCCGAGGTTTGGACATACCTCATGTAGATGTGGTTGTCAACTTTGACATTCCTACCCATTCCAAGGATTACATCCATCGA
GTAGGTCGAACAGCTAGAGCTGGGCGCTCCGGAAAGGCTATTACTTTTGTCACACAGTATGATGTGGAACTCTTCCAGCGCATAGAACACTTAATTGGGAAGAAA
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>DDX47|51202|protein
MAAPEEHDSPTEASQPIVEEEETKTFKDLGVTDVLCEACDQLGWTKPTKIQIEAIPLALQGRDIIGLAETGSGKTGAFALPILNALLETPQRLFALVLTPTRELA
FQISEQFEALGSSIGVQSAVIVGGIDSMSQSLALAKKPHIIIATPGRLIDHLENTKGFNLRALKYLVMDEADRILNMDFETEVDKILKVIPRDRKTFLFSATMTK
KVQKLQRAALKNPVKCAVSSKYQTVEKLQQYYIFIPSKFKDTYLVYILNELAGNSFMIFCSTCNNTQRTALLLRNLGFTAIPLHGQMSQSKRLGSLNKFKAKARS
ILLATDVASRGLDIPHVDVVVNFDIPTHSKDYIHRVGRTARAGRSGKAITFVTQYDVELFQRIEHLIGKKLPGFPTQDDEVMMLTERVAEAQRFARMELREHGEK
KKRSREDAGDNDDTEGAIGVRNKVAGGKMKKRKGR
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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 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top