Evidence Details for WWOX
Basic Information Top
Gene Symbol: | WWOX ( D16S432E,FOR,FRA16D,HHCMA56,PRO0128,SDR41C1,WOX1 ) |
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Gene Full Name: | WW domain containing oxidoreductase |
Band: | 16q23.1-q23.2 |
Quick Links | Entrez 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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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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MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLPYGWEQETDENGQVFFVDHINKRTTYLDPRLAFTVDDNPTKPTTRQ
RYDGSTTAMEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCN
AATFALPWSLTKDGLETTFQVNHLGHFYLVQLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRG
VTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAATTVYCAAVPELEGLGGMYFNNCCRCMPSPEAQSEETARTLWALSERLIQERLGSQSG
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
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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, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
Low Scale Gene Studies Top
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