Evidence Details for WWC3
Basic Information Top
| Gene Symbol: | WWC3 ( BM042,KIAA1280 ) |
|---|---|
| Gene Full Name: | WWC family member 3 |
| Band: | Xp22.2 |
| Quick Links | Entrez ID:55841; OMIM: NA; Uniprot ID:WWC3_HUMAN; ENSEMBL ID: ENSG00000047644; HGNC ID: 29237 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>WWC3|55841|nucleotide
ATGGACCACATAAATAAACTTACCCAGATTGAGGATCCAAGAGAACAGTGGAGGCGAGAGCAAGAGCGCATGTTGAAGGAATATTTAATTGTAGCTCAGGAGGCT
CTCAATGCCAAGAAAGAAATCTACCAGATTAAGCAGCAGCGGTTCGAGCTGGCCCAGGAGGAATACCAGCAGCTGCACAAAATGTGTGAGGATGACAGCCGCTCG
TACGCCAGCTCATTCTCTGGATATTCAACAAATACAAAGTATGACCCACACCAAATTAAAGCAGAAATAGCAAGTCGTCGGGATAGGCTTTCCAGATTAAAACGA
GAGCTGACCCAGATGAAGCAGGAACTGCAGTACAAAGAAAAGGGGGTGGAGACCCTGCAAGAGATTGATCGGAAGATGTCAAGTACTCACACCAGCTACAAACTG
GATGAGGCGCAGGCTATCATGAGTGAGCTCCGGACCATCAAGAAGGCCATTTGCACAGGCGAGAAGGAGAGGCGGGACCTGATGCATAGCCTGGCCAAGCTGACC
GATAGCTTCAAGAACAGCTGCTCCGTTACCGACTCTCTAGTGGACTTCCCTCACCATGTAGGCGTGCCTGGCGATGCTGGTGTACCCCAGCAGTTCTGCGATGCC
GGCTCCCAGACTGATATCATCGGGGAGTTTGTCTTTGATGATAAAACAAGACTTGTAGACCGAGTCAGACTTAATTGGCAATATGAAGAAGCCAGAAAGAGAGTC
GCCAACATCCAGCAGCAGCTGGCCCGGCTTGACAATGAGTCCTGGCCAAGCACGGCCGAGGCTGACAGGGACCGGCTGCAGCTCATCAAGGAGAAGGAGGCCCTG
CTGCAGGAGCTTCAGCTCATCATTGCACAGCGCCGCTCTGCGGGAGATGTGGCCCGGCTGGAGGAGGAGCGGGAGCGCCTAGAGGAGGAGCTGCGGCGTGCACGG
GCCACCTCCGCACAGGGCGCCACGGAGAGGATTCTGCTTCAGGAAAAAAGGAATTGTCTACTTATGCAGCTGGAAGAAGCCACCCGCTTAACATCCTACCTCCAG
TCCCAGTTAAAAAGCCTGTGTGCCAGCACCCTGACGGTGTCCTCGGGGAGCAGCCGCGGGTCCCTAGCCTCCAGCCGTGGGTCTCTGGCCTCCAGCCGGGGCTCC
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ATGGACCACATAAATAAACTTACCCAGATTGAGGATCCAAGAGAACAGTGGAGGCGAGAGCAAGAGCGCATGTTGAAGGAATATTTAATTGTAGCTCAGGAGGCT
CTCAATGCCAAGAAAGAAATCTACCAGATTAAGCAGCAGCGGTTCGAGCTGGCCCAGGAGGAATACCAGCAGCTGCACAAAATGTGTGAGGATGACAGCCGCTCG
TACGCCAGCTCATTCTCTGGATATTCAACAAATACAAAGTATGACCCACACCAAATTAAAGCAGAAATAGCAAGTCGTCGGGATAGGCTTTCCAGATTAAAACGA
GAGCTGACCCAGATGAAGCAGGAACTGCAGTACAAAGAAAAGGGGGTGGAGACCCTGCAAGAGATTGATCGGAAGATGTCAAGTACTCACACCAGCTACAAACTG
GATGAGGCGCAGGCTATCATGAGTGAGCTCCGGACCATCAAGAAGGCCATTTGCACAGGCGAGAAGGAGAGGCGGGACCTGATGCATAGCCTGGCCAAGCTGACC
GATAGCTTCAAGAACAGCTGCTCCGTTACCGACTCTCTAGTGGACTTCCCTCACCATGTAGGCGTGCCTGGCGATGCTGGTGTACCCCAGCAGTTCTGCGATGCC
GGCTCCCAGACTGATATCATCGGGGAGTTTGTCTTTGATGATAAAACAAGACTTGTAGACCGAGTCAGACTTAATTGGCAATATGAAGAAGCCAGAAAGAGAGTC
GCCAACATCCAGCAGCAGCTGGCCCGGCTTGACAATGAGTCCTGGCCAAGCACGGCCGAGGCTGACAGGGACCGGCTGCAGCTCATCAAGGAGAAGGAGGCCCTG
CTGCAGGAGCTTCAGCTCATCATTGCACAGCGCCGCTCTGCGGGAGATGTGGCCCGGCTGGAGGAGGAGCGGGAGCGCCTAGAGGAGGAGCTGCGGCGTGCACGG
GCCACCTCCGCACAGGGCGCCACGGAGAGGATTCTGCTTCAGGAAAAAAGGAATTGTCTACTTATGCAGCTGGAAGAAGCCACCCGCTTAACATCCTACCTCCAG
TCCCAGTTAAAAAGCCTGTGTGCCAGCACCCTGACGGTGTCCTCGGGGAGCAGCCGCGGGTCCCTAGCCTCCAGCCGTGGGTCTCTGGCCTCCAGCCGGGGCTCC
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>WWC3|55841|protein
MDHINKLTQIEDPREQWRREQERMLKEYLIVAQEALNAKKEIYQIKQQRFELAQEEYQQLHKMCEDDSRSYASSFSGYSTNTKYDPHQIKAEIASRRDRLSRLKR
ELTQMKQELQYKEKGVETLQEIDRKMSSTHTSYKLDEAQAIMSELRTIKKAICTGEKERRDLMHSLAKLTDSFKNSCSVTDSLVDFPHHVGVPGDAGVPQQFCDA
GSQTDIIGEFVFDDKTRLVDRVRLNWQYEEARKRVANIQQQLARLDNESWPSTAEADRDRLQLIKEKEALLQELQLIIAQRRSAGDVARLEEERERLEEELRRAR
ATSAQGATERILLQEKRNCLLMQLEEATRLTSYLQSQLKSLCASTLTVSSGSSRGSLASSRGSLASSRGSLSSVSFTDIYGLPQYEKPDAEGSQLLRFDLIPFDS
LGRDAPFSEPPGPSGFHKQRRSLDTPQSLASLSSRSSLSSLSPPSSPLDTPFLPASRDSPLAQLADSCEGPGLGALDRLRAHASAMGDEDLPGMAALQPHGVPGD
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MDHINKLTQIEDPREQWRREQERMLKEYLIVAQEALNAKKEIYQIKQQRFELAQEEYQQLHKMCEDDSRSYASSFSGYSTNTKYDPHQIKAEIASRRDRLSRLKR
ELTQMKQELQYKEKGVETLQEIDRKMSSTHTSYKLDEAQAIMSELRTIKKAICTGEKERRDLMHSLAKLTDSFKNSCSVTDSLVDFPHHVGVPGDAGVPQQFCDA
GSQTDIIGEFVFDDKTRLVDRVRLNWQYEEARKRVANIQQQLARLDNESWPSTAEADRDRLQLIKEKEALLQELQLIIAQRRSAGDVARLEEERERLEEELRRAR
ATSAQGATERILLQEKRNCLLMQLEEATRLTSYLQSQLKSLCASTLTVSSGSSRGSLASSRGSLASSRGSLSSVSFTDIYGLPQYEKPDAEGSQLLRFDLIPFDS
LGRDAPFSEPPGPSGFHKQRRSLDTPQSLASLSSRSSLSSLSPPSSPLDTPFLPASRDSPLAQLADSCEGPGLGALDRLRAHASAMGDEDLPGMAALQPHGVPGD
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 1 (5) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (6) |
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 | ||||||
| Thomas, 1999 | - | FISH | ![]() | ![]() | autism | - | - | - | - | 3 | - | 3 |
| Christian, 2008 | USA | aCGH | ![]() | ![]() | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 |
| Vazna, 2010 | Czech | aCGH | ![]() | ![]() | ASD | - | - | - | - | 1 | - | 1 |
| Pinto, 2010 | - | SNP microarray, qPCR | ![]() | ![]() | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Edens, 2011 | Honduras | aCGH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | ![]() | ![]() | autism | - | - | - | - | 1 | - | 1 |
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 |
|---|---|---|---|---|
| Jiang YH, 2013 | - | 32 | 39 | Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome seque |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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