AutismKB 2.0

Evidence Details for WWOX


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Basic Information Top
Gene Symbol:WWOX ( D16S432E,FOR,FRA16D,HHCMA56,PRO0128,SDR41C1,WOX1 )
Gene Full Name: WW domain containing oxidoreductase
Band: 16q23.1-q23.2
Quick LinksEntrez ID:51741; OMIM: 605131; Uniprot ID:WWOX_HUMAN; ENSEMBL ID: ENSG00000186153; HGNC ID: 12799
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WWOX|51741|nucleotide
ATGGCAGCGCTGCGCTACGCGGGGCTGGACGACACGGACAGTGAGGACGAGCTGCCTCCGGGCTGGGAGGAGAGAACCACCAAGGACGGCTGGGTTTACTACGCC
AATCACACCGAGGAGAAGACTCAGTGGGAACATCCAAAAACTGGAAAAAGAAAACGAGTGGCAGGAGATTTGCCATACGGATGGGAACAAGAAACTGATGAGAAC
GGACAAGTGTTTTTTGTTGACCATATAAATAAAAGAACCACCTACTTGGACCCAAGACTGGCGTTTACTGTGGATGATAATCCGACCAAGCCAACCACCCGGCAA
AGATACGACGGCAGCACCACTGCCATGGAAATTCTCCAGGGCCGGGATTTCACTGGCAAAGTGGTTGTGGTCACTGGAGCTAATTCAGGAATAGGGTTCGAAACC
GCCAAGTCTTTTGCCCTCCATGGTGCACATGTGATCTTGGCCTGCAGGAACATGGCAAGGGCGAGTGAAGCAGTGTCACGCATTTTAGAAGAATGGCATAAAGCC
AAGGTAGAAGCAATGACCCTGGACCTCGCTCTGCTCCGTAGCGTGCAGCATTTTGCTGAAGCATTCAAGGCCAAGAATGTGCCTCTTCATGTGCTTGTGTGCAAC
GCAGCAACTTTTGCTCTACCCTGGAGTCTCACCAAAGATGGCCTGGAGACCACCTTTCAAGTGAATCATCTGGGGCACTTCTACCTTGTCCAGCTCCTCCAGGAT
GTTTTGTGCCGCTCAGCTCCTGCCCGTGTCATTGTGGTCTCCTCAGAGTCCCATCGATTTACAGATATTAACGACTCCTTGGGAAAACTGGACTTCAGTCGCCTC
TCTCCAACAAAAAACGACTATTGGGCGATGCTGGCTTATAACAGGTCCAAGCTCTGCAACATCCTCTTCTCCAACGAGCTGCACCGTCGCCTCTCCCCACGCGGG
GTCACGTCGAACGCAGTGCATCCTGGAAATATGATGTACTCCAACATTCATCGCAGCTGGTGGGTGTACACACTGCTGTTTACCTTGGCGAGGCCTTTCACCAAG
TCCATGCAACAGGGAGCTGCCACCACCGTGTACTGTGCTGCTGTCCCAGAACTGGAGGGTCTGGGAGGGATGTACTTCAACAACTGCTGCCGCTGCATGCCCTCA
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>WWOX|51741|protein
MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLPYGWEQETDENGQVFFVDHINKRTTYLDPRLAFTVDDNPTKPTTRQ
RYDGSTTAMEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCN
AATFALPWSLTKDGLETTFQVNHLGHFYLVQLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRG
VTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAATTVYCAAVPELEGLGGMYFNNCCRCMPSPEAQSEETARTLWALSERLIQERLGSQSG

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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 (1) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (1) 0 (0) 0 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top