AutismKB 2.0

Evidence Details for RWDD2A


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Basic Information Top
Gene Symbol:RWDD2A ( MGC13523,MGC138208,RWDD2,dJ747H23.2 )
Gene Full Name: RWD domain containing 2A
Band: 6q14.1
Quick LinksEntrez ID:112611; OMIM: NA; Uniprot ID:RWD2A_HUMAN; ENSEMBL ID: ENSG00000013392; HGNC ID: 21385
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RWDD2A|112611|nucleotide
ATGTCTGCTTCGGTGAAAGAAAGCCTTCAGCTTCAGCTACTGGAGATGGAAATGCTGTTTTCTATGTTTCCTAACCAAGGAGAAGTAAAACTTGAAGATGTAAAT
GCCCTGACGAATATAAAGAGGTATTTGGAAGGCACAAGGGAGGCGCTGCCACCAAAAATCGAATTTGTAATTACACTCCAGATTGAAGAGCCCAAGGTGAAAATT
GATTTGCAAGTGACCATGCCTCACAGCTACCCCTATGTAGCATTGCAGCTGTTTGGACGGTCATCTGAACTTGACAGACATCAGCAGCTACTTCTCAACAAAGGT
CTCACTTCTTACATAGGGACTTTTGATCCAGGTGAGCTCTGTGTATGTGCAGCAATCCAGTGGCTACAGGACAACAGTGCATCTTATTTCCTGAACAGAAAGCTT
GTATATGAACCATCTACACAAGCAAAGCCAGTCAAGAACACATTCCTCCGAATGTGGATCTACAGTCACCATATATATCAGCAGGACCTAAGGAAAAAGATTTTG
GATGTTGGGAAAAGGTTAGATGTGACTGGATTTTGCATGACAGGAAAGCCTGGTATAATCTGTGTGGAGGGTTTCAAAGAGCACTGTGAGGAGTTCTGGCACACA
ATTAGGTACCCCAATTGGAAGCACATTTCCTGTAAGCATGCTGAAAGCGTGGAGACAGAAGGAAATGGTGAGGACCTGCGCCTTTTCCATTCTTTTGAAGAGTTA
CTCCTTGAGGCTCATGGTGACTATGGATTAAGGAATGACTATCACATGAATCTGGGCCAATTCTTAGAATTTCTCAAGAAGCACAAAAGTGAGCATGTTTTTCAG
ATACTATTTGGTATTGAAAGCAAAAGTTCAGACTCATAA


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>RWDD2A|112611|protein
MSASVKESLQLQLLEMEMLFSMFPNQGEVKLEDVNALTNIKRYLEGTREALPPKIEFVITLQIEEPKVKIDLQVTMPHSYPYVALQLFGRSSELDRHQQLLLNKG
LTSYIGTFDPGELCVCAAIQWLQDNSASYFLNRKLVYEPSTQAKPVKNTFLRMWIYSHHIYQQDLRKKILDVGKRLDVTGFCMTGKPGIICVEGFKEHCEEFWHT
IRYPNWKHISCKHAESVETEGNGEDLRLFHSFEELLLEAHGDYGLRNDYHMNLGQFLEFLKKHKSEHVFQILFGIESKSSDS


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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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
Quintela I, 2015 - ---autistic disorder - - - - 1 - 1
Linkage Studies Top