AutismKB 2.0

Evidence Details for DDX23


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Basic Information Top
Gene Symbol:DDX23 ( MGC8416,PRPF28,U5-100K,U5-100KD,prp28 )
Gene Full Name: DEAD (Asp-Glu-Ala-Asp) box polypeptide 23
Band: 12q13.12
Quick LinksEntrez ID:9416; OMIM: 612172; Uniprot ID:DDX23_HUMAN; ENSEMBL ID: ENSG00000174243; HGNC ID: 17347
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DDX23|9416|nucleotide
ATGGCAGGAGAGCTGGCTGACAAAAAGGACCGTGATGCATCACCTTCCAAGGAGGAAAGGAAGCGATCACGGACTCCTGACAGAGAGCGGGATAGAGACCGGGAC
CGGAAGTCTTCCCCATCTAAAGATAGAAAGCGGCATCGTTCAAGGGATAGACGTCGAGGAGGCAGCCGTTCTCGCTCTCGTTCCCGTTCCAAATCTGCAGAAAGA
GAACGACGGCACAAAGAACGAGAACGAGATAAGGAGCGGGATCGGAATAAGAAGGACCGAGATCGAGACAAGGATGGGCACAGACGGGACAAGGACCGTAAACGA
TCCAGCTTATCTCCTGGTCGAGGAAAAGACTTTAAATCTCGGAAGGACAGAGACTCTAAGAAGGATGAAGAGGATGAACATGGTGATAAGAAGCCTAAGGCCCAG
CCATTATCCCTGGAGGAGCTTCTGGCCAAGAAAAAGGCTGAGGAAGAAGCTGAGGCTAAGCCCAAGTTCCTCTCTAAAGCAGAACGAGAGGCTGAAGCTCTAAAG
CGACGGCAGCAGGAGGTGGAAGAGCGGCAGAGGATGCTTGAAGAAGAGAGGAAGAAAAGGAAACAGTTCCAAGACTTGGGCAGGAAGATGTTGGAAGATCCTCAG
GAACGGGAACGTCGGGAACGCAGGGAGAGGATGGAACGGGAGACCAATGGAAATGAGGATGAGGAAGGGCGGCAGAAGATCCGGGAAGAGAAGGATAAGAGCAAG
GAACTGCATGCCATTAAGGAGCGTTACCTGGGTGGCATCAAAAAGCGGCGCCGAACGAGACATCTCAATGACCGGAAATTTGTTTTTGAGTGGGATGCATCTGAG
GACACATCCATTGACTACAACCCCCTGTACAAAGAACGGCACCAGGTGCAGTTGTTAGGGCGAGGCTTCATTGCAGGCATTGACCTCAAGCAGCAGAAGCGAGAG
CAGTCACGTTTCTATGGAGACCTAATGGAGAAGAGGCGAACCCTGGAAGAAAAGGAGCAGGAGGAGGCAAGACTCCGCAAACTTCGTAAGAAGGAAGCCAAGCAG
CGCTGGGATGATCGTCATTGGTCTCAGAAAAAGTTAGATGAGATGACGGACAGGGACTGGCGGATCTTCCGTGAGGACTACAGCATCACCACCAAAGGTGGCAAG
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>DDX23|9416|protein
MAGELADKKDRDASPSKEERKRSRTPDRERDRDRDRKSSPSKDRKRHRSRDRRRGGSRSRSRSRSKSAERERRHKERERDKERDRNKKDRDRDKDGHRRDKDRKR
SSLSPGRGKDFKSRKDRDSKKDEEDEHGDKKPKAQPLSLEELLAKKKAEEEAEAKPKFLSKAEREAEALKRRQQEVEERQRMLEEERKKRKQFQDLGRKMLEDPQ
ERERRERRERMERETNGNEDEEGRQKIREEKDKSKELHAIKERYLGGIKKRRRTRHLNDRKFVFEWDASEDTSIDYNPLYKERHQVQLLGRGFIAGIDLKQQKRE
QSRFYGDLMEKRRTLEEKEQEEARLRKLRKKEAKQRWDDRHWSQKKLDEMTDRDWRIFREDYSITTKGGKIPNPIRSWKDSSLPPHILEVIDKCGYKEPTPIQRQ
AIPIGLQNRDIIGVAETGSGKTAAFLIPLLVWITTLPKIDRIEESDQGPYAIILAPTRELAQQIEEETIKFGKPLGIRTVAVIGGISREDQGFRLRMGCEIVIAT
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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) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top