Evidence Details for WDR70
Basic Information Top
| Gene Symbol: | WDR70 ( FLJ10233 ) |
|---|---|
| Gene Full Name: | WD repeat domain 70 |
| Band: | 5p13.2 |
| Quick Links | Entrez ID:55100; OMIM: NA; Uniprot ID:WDR70_HUMAN; ENSEMBL ID: ENSG00000082068; HGNC ID: 25495 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>WDR70|55100|nucleotide
ATGGAGCGCTCTGGGCCCAGCGAAGTGACAGGCTCAGACGCGTCGGGACCGGACCCGCAGCTTGCGGTCACCATGGGCTTCACGGGGTTCGGTAAAAAAGCTCGC
ACATTTGACTTGGAAGCAATGTTTGAACAAACTCGAAGGACAGCTGTGGAAAGAAGTCGCAAAACACTGGAAGCAAGAGAAAAAGAGGAAGAAATGAACAGAGAG
AAAGAATTAAGAAGACAAAATGAAGATATTGAGCCAACATCCTCAAGATCAAATGTGGTCAGAGATTGCTCCAAATCATCTTCCAGGGATACGAGCAGCAGTGAA
AGTGAACAGAGTTCTGACTCTTCTGATGATGAGTTAATTGGCCCTCCTTTACCCCCTAAAATGGTAGGAAAACCAGTTAATTTTATGGAGGAAGATATCCTCGGT
CCTTTACCTCCACCTCTTAATGAAGAAGAAGAAGAAGCAGAGGAAGAAGAAGAGGAAGAGGAGGAAGAGGAAAATCCTGTTCACAAGATTCCTGACTCGCATGAG
ATAACGCTGAAGCATGGCACTAAAACAGTGTCTGCTTTGGGTCTGGATCCCTCAGGTGCCCGTTTGGTGACAGGAGGATATGACTATGATGTTAAGTTTTGGGAT
TTTGCTGGAATGGATGCTTCTTTTAAGGCATTTCGATCCCTTCAGCCCTGTGAGTGCCATCAGATCAAGTCATTACAGTATAGTAACACAGGAGACATGATTCTT
GTTGTATCTGGAAGCTCTCAGGCCAAGGTGATTGACAGAGATGGTTTTGAAGTAATGGAATGTATAAAAGGAGACCAGTATATTGTGGACATGGCCAACACCAAG
GGTCATACAGCAATGCTTCATACTGGCTCATGGCATCCCAAAATAAAGGGAGAATTTATGACTTGCTCAAATGATGCGACTGTGAGGACGTGGGAAGTTGAAAAT
CCAAAGAAGCAAAAAAGTGTGTTTAAACCACGGACGATGCAAGGCAAAAAAGTCATTCCCACTACGTGCACATATAGTAGAGATGGAAACCTCATAGCAGCTGCC
TGCCAGAATGGAAGCATACAGATCTGGGACCGAAATTTGACTGTTCATCCTAAGTTCCACTATAAACAGGCTCATGACTCGGGCACAGACACTTCTTGCGTGACT
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ATGGAGCGCTCTGGGCCCAGCGAAGTGACAGGCTCAGACGCGTCGGGACCGGACCCGCAGCTTGCGGTCACCATGGGCTTCACGGGGTTCGGTAAAAAAGCTCGC
ACATTTGACTTGGAAGCAATGTTTGAACAAACTCGAAGGACAGCTGTGGAAAGAAGTCGCAAAACACTGGAAGCAAGAGAAAAAGAGGAAGAAATGAACAGAGAG
AAAGAATTAAGAAGACAAAATGAAGATATTGAGCCAACATCCTCAAGATCAAATGTGGTCAGAGATTGCTCCAAATCATCTTCCAGGGATACGAGCAGCAGTGAA
AGTGAACAGAGTTCTGACTCTTCTGATGATGAGTTAATTGGCCCTCCTTTACCCCCTAAAATGGTAGGAAAACCAGTTAATTTTATGGAGGAAGATATCCTCGGT
CCTTTACCTCCACCTCTTAATGAAGAAGAAGAAGAAGCAGAGGAAGAAGAAGAGGAAGAGGAGGAAGAGGAAAATCCTGTTCACAAGATTCCTGACTCGCATGAG
ATAACGCTGAAGCATGGCACTAAAACAGTGTCTGCTTTGGGTCTGGATCCCTCAGGTGCCCGTTTGGTGACAGGAGGATATGACTATGATGTTAAGTTTTGGGAT
TTTGCTGGAATGGATGCTTCTTTTAAGGCATTTCGATCCCTTCAGCCCTGTGAGTGCCATCAGATCAAGTCATTACAGTATAGTAACACAGGAGACATGATTCTT
GTTGTATCTGGAAGCTCTCAGGCCAAGGTGATTGACAGAGATGGTTTTGAAGTAATGGAATGTATAAAAGGAGACCAGTATATTGTGGACATGGCCAACACCAAG
GGTCATACAGCAATGCTTCATACTGGCTCATGGCATCCCAAAATAAAGGGAGAATTTATGACTTGCTCAAATGATGCGACTGTGAGGACGTGGGAAGTTGAAAAT
CCAAAGAAGCAAAAAAGTGTGTTTAAACCACGGACGATGCAAGGCAAAAAAGTCATTCCCACTACGTGCACATATAGTAGAGATGGAAACCTCATAGCAGCTGCC
TGCCAGAATGGAAGCATACAGATCTGGGACCGAAATTTGACTGTTCATCCTAAGTTCCACTATAAACAGGCTCATGACTCGGGCACAGACACTTCTTGCGTGACT
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>WDR70|55100|protein
MERSGPSEVTGSDASGPDPQLAVTMGFTGFGKKARTFDLEAMFEQTRRTAVERSRKTLEAREKEEEMNREKELRRQNEDIEPTSSRSNVVRDCSKSSSRDTSSSE
SEQSSDSSDDELIGPPLPPKMVGKPVNFMEEDILGPLPPPLNEEEEEAEEEEEEEEEEENPVHKIPDSHEITLKHGTKTVSALGLDPSGARLVTGGYDYDVKFWD
FAGMDASFKAFRSLQPCECHQIKSLQYSNTGDMILVVSGSSQAKVIDRDGFEVMECIKGDQYIVDMANTKGHTAMLHTGSWHPKIKGEFMTCSNDATVRTWEVEN
PKKQKSVFKPRTMQGKKVIPTTCTYSRDGNLIAAACQNGSIQIWDRNLTVHPKFHYKQAHDSGTDTSCVTFSYDGNVLASRGGDDSLKLWDIRQFNKPLFSASGL
PTMFPMTDCCFSPDDKLIVTGTSIQRGCGSGKLVFFERRTFQRVYEIDITDASVVRCLWHPKLNQIMVGTGNGLAKVYYDPNKSQRGAKLCVVKTQRKAKQAETL
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MERSGPSEVTGSDASGPDPQLAVTMGFTGFGKKARTFDLEAMFEQTRRTAVERSRKTLEAREKEEEMNREKELRRQNEDIEPTSSRSNVVRDCSKSSSRDTSSSE
SEQSSDSSDDELIGPPLPPKMVGKPVNFMEEDILGPLPPPLNEEEEEAEEEEEEEEEEENPVHKIPDSHEITLKHGTKTVSALGLDPSGARLVTGGYDYDVKFWD
FAGMDASFKAFRSLQPCECHQIKSLQYSNTGDMILVVSGSSQAKVIDRDGFEVMECIKGDQYIVDMANTKGHTAMLHTGSWHPKIKGEFMTCSNDATVRTWEVEN
PKKQKSVFKPRTMQGKKVIPTTCTYSRDGNLIAAACQNGSIQIWDRNLTVHPKFHYKQAHDSGTDTSCVTFSYDGNVLASRGGDDSLKLWDIRQFNKPLFSASGL
PTMFPMTDCCFSPDDKLIVTGTSIQRGCGSGKLVFFERRTFQRVYEIDITDASVVRCLWHPKLNQIMVGTGNGLAKVYYDPNKSQRGAKLCVVKTQRKAKQAETL
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Evidence summary TopClick 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) | 0 (2) | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV 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 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gregg, 2008_2 | mixed | lymphoblastoid cell lines | 17 (11.76%) | | | autism with early onset | autism | 12 (25.00%) |
1.544 | Up | 0.0321 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.