AutismKB 2.0

Evidence Details for DDX42


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Basic Information Top
Gene Symbol:DDX42 ( FLJ43179,RHELP,RNAHP,SF3b125 )
Gene Full Name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 42
Band: 17q23.3
Quick LinksEntrez ID:11325; OMIM: 613369; Uniprot ID:DDX42_HUMAN; ENSEMBL ID: ENSG00000198231; HGNC ID: 18676
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DDX42|11325|nucleotide
ATGAACTGGAATAAAGGTGGTCCTGGCACTAAGCGAGGATTTGGCTTTGGAGGTTTTGCCATCAGTGCTGGGAAAAAGGAGGAACCCAAACTCCCACAGCAGTCC
CACAGTGCCTTTGGGGCAACCAGCTCTTCTTCTGGATTTGGAAAGTCAGCTCCACCACAGCTTCCTTCTTTCTACAAAATTGGATCTAAGCGGGCCAACTTTGAT
GAAGAAAATGCCTATTTTGAAGATGAGGAAGAAGATTCTAGCAACGTTGATTTACCTTACATTCCTGCTGAAAACTCACCAACTCGCCAGCAATTCCATTCCAAG
CCAGTAGATTCTGACAGCGATGATGATCCCTTGGAGGCATTCATGGCTGAAGTGGAGGATCAGGCAGCTAGAGACATGAAGAGGCTTGAAGAAAAGGACAAGGAA
AGAAAAAACGTAAAGGGTATTCGAGATGACATTGAAGAGGAAGATGACCAAGAAGCTTATTTTCGATACATGGCAGAAAACCCAACTGCTGGTGTGGTTCAGGAG
GAAGAGGAAGACAATCTAGAATATGATAGTGACGGAAATCCAATTGCACCTACCAAAAAAATCATTGATCCTCTTCCCCCCATTGATCATTCAGAGATTGACTAT
CCACCATTTGAAAAAAACTTTTACAATGAGCATGAAGAGATAACCAACCTCACTCCACAGCAGTTAATAGATCTCCGGCATAAGCTCAATCTTCGGGTCTCTGGT
GCTGCACCTCCTAGACCAGGAAGTAGCTTTGCTCATTTTGGGTTTGACGAACAACTTATGCACCAGATTCGGAAATCTGAATACACACAGCCCACTCCAATACAG
TGCCAGGGTGTGCCTGTGGCATTAAGTGGTAGAGACATGATTGGTATTGCCAAAACAGGTAGTGGGAAAACTGCAGCCTTCATTTGGCCCATGTTGATTCATATA
ATGGACCAGAAGGAGTTGGAACCAGGTGATGGACCAATTGCAGTGATTGTGTGTCCTACCAGGGAGCTTTGCCAGCAGATCCATGCAGAATGTAAGCGGTTTGGA
AAAGCATATAATCTTCGATCAGTGGCCGTATATGGAGGAGGGAGTATGTGGGAGCAGGCCAAGGCCCTTCAGGAGGGGGCAGAGATTGTTGTGTGTACCCCAGGT
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>DDX42|11325|protein
MNWNKGGPGTKRGFGFGGFAISAGKKEEPKLPQQSHSAFGATSSSSGFGKSAPPQLPSFYKIGSKRANFDEENAYFEDEEEDSSNVDLPYIPAENSPTRQQFHSK
PVDSDSDDDPLEAFMAEVEDQAARDMKRLEEKDKERKNVKGIRDDIEEEDDQEAYFRYMAENPTAGVVQEEEEDNLEYDSDGNPIAPTKKIIDPLPPIDHSEIDY
PPFEKNFYNEHEEITNLTPQQLIDLRHKLNLRVSGAAPPRPGSSFAHFGFDEQLMHQIRKSEYTQPTPIQCQGVPVALSGRDMIGIAKTGSGKTAAFIWPMLIHI
MDQKELEPGDGPIAVIVCPTRELCQQIHAECKRFGKAYNLRSVAVYGGGSMWEQAKALQEGAEIVVCTPGRLIDHVKKKATNLQRVSYLVFDEADRMFDMGFEYQ
VRSIASHVRPDRQTLLFSATFRKKIEKLARDILIDPIRVVQGDIGEANEDVTQIVEILHSGPSKWNWLTRRLVEFTSSGSVLLFVTKKANAEELANNLKQEGHNL
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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) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Krumm N, 2015 - ---- 1266 - - - - - -
Linkage Studies Top