Evidence Details for DDX53
Basic Information Top
| Gene Symbol: | DDX53 ( CAGE,CT26 ) |
|---|---|
| Gene Full Name: | DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 |
| Band: | Xp22.11 |
| Quick Links | Entrez ID:168400; OMIM: NA; Uniprot ID:DDX53_HUMAN; ENSEMBL ID: ENSG00000184735; HGNC ID: 20083 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>DDX53|168400|nucleotide
ATGTCCCACTGGGCCCCAGAGTGGAAGAGGGCGGAGGCTAATCCAAGAGACCTTGGGGCCAGCTGGGATGTCAGGGGCAGCAGAGGCAGTGGCTGGAGTGGCCCC
TTCGGCCATCAGGGACCGAGAGCAGCAGGCTCCCGTGAACCACCACTCTGCTTTAAAATAAAGAACAATATGGTTGGTGTGGTCATTGGTTACAGTGGATCAAAA
ATAAAAGATCTACAACATTCGACAAACACTAAAATACAGATCATAAACGGGGAATCTGAAGCAAAAGTCAGAATTTTTGGCAATAGGGAAATGAAAGCAAAGGCC
AAAGCGGCTATAGAAACACTTATTAGAAAACAAGAAAGCTACAACTCAGAATCCAGTGTGGATAATGCTGCATCCCAAACCCCTATTGGAAGAAATCTAGGCAGA
AATGACATTGTTGGAGAAGCTGAGCCATTGTCAAATTGGGATCGCATTAGGGCAGCAGTCGTGGAGTGCGAAAAGAGAAAATGGGCAGATCTACCACCAGTTAAG
AAAAACTTTTACATAGAATCCAAAGCAACAAGCTGCATGTCTGAAATGCAGGTGATTAACTGGAGAAAGGAAAATTTCAACATAACGTGTGATGACTTGAAAAGT
GGTGAAAAGCGTCTCATTCCAAAACCAACTTGCAGGTTTAAAGACGCTTTTCAGCAATACCCTGATCTTCTGAAAAGCATAATAAGGGTAGGGATTGTAAAGCCA
ACGCCAATTCAGTCACAGGCATGGCCAATTATTCTACAAGGAATAGATCTTATAGTAGTTGCACAAACCGGAACAGGGAAAACATTGTCCTATCTAATGCCTGGG
TTTATTCATCTTGATTCTCAACCAATATCTAGAGAGCAAAGGAATGGGCCTGGGATGCTAGTCCTTACACCCACTAGAGAGTTGGCTCTTCACGTGGAAGCTGAA
TGTTCAAAGTATTCATATAAAGGTCTCAAAAGCATTTGCATATATGGTGGTAGAAACAGAAATGGACAAATAGAAGACATTAGCAAAGGTGTAGATATCATTATT
GCAACTCCTGGGAGGCTGAATGACCTACAAATGAATAACTCTGTCAACCTAAGAAGCATAACCTACTTGGTTATAGATGAGGCAGATAAAATGCTGGATATGGAA
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ATGTCCCACTGGGCCCCAGAGTGGAAGAGGGCGGAGGCTAATCCAAGAGACCTTGGGGCCAGCTGGGATGTCAGGGGCAGCAGAGGCAGTGGCTGGAGTGGCCCC
TTCGGCCATCAGGGACCGAGAGCAGCAGGCTCCCGTGAACCACCACTCTGCTTTAAAATAAAGAACAATATGGTTGGTGTGGTCATTGGTTACAGTGGATCAAAA
ATAAAAGATCTACAACATTCGACAAACACTAAAATACAGATCATAAACGGGGAATCTGAAGCAAAAGTCAGAATTTTTGGCAATAGGGAAATGAAAGCAAAGGCC
AAAGCGGCTATAGAAACACTTATTAGAAAACAAGAAAGCTACAACTCAGAATCCAGTGTGGATAATGCTGCATCCCAAACCCCTATTGGAAGAAATCTAGGCAGA
AATGACATTGTTGGAGAAGCTGAGCCATTGTCAAATTGGGATCGCATTAGGGCAGCAGTCGTGGAGTGCGAAAAGAGAAAATGGGCAGATCTACCACCAGTTAAG
AAAAACTTTTACATAGAATCCAAAGCAACAAGCTGCATGTCTGAAATGCAGGTGATTAACTGGAGAAAGGAAAATTTCAACATAACGTGTGATGACTTGAAAAGT
GGTGAAAAGCGTCTCATTCCAAAACCAACTTGCAGGTTTAAAGACGCTTTTCAGCAATACCCTGATCTTCTGAAAAGCATAATAAGGGTAGGGATTGTAAAGCCA
ACGCCAATTCAGTCACAGGCATGGCCAATTATTCTACAAGGAATAGATCTTATAGTAGTTGCACAAACCGGAACAGGGAAAACATTGTCCTATCTAATGCCTGGG
TTTATTCATCTTGATTCTCAACCAATATCTAGAGAGCAAAGGAATGGGCCTGGGATGCTAGTCCTTACACCCACTAGAGAGTTGGCTCTTCACGTGGAAGCTGAA
TGTTCAAAGTATTCATATAAAGGTCTCAAAAGCATTTGCATATATGGTGGTAGAAACAGAAATGGACAAATAGAAGACATTAGCAAAGGTGTAGATATCATTATT
GCAACTCCTGGGAGGCTGAATGACCTACAAATGAATAACTCTGTCAACCTAAGAAGCATAACCTACTTGGTTATAGATGAGGCAGATAAAATGCTGGATATGGAA
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>DDX53|168400|protein
MSHWAPEWKRAEANPRDLGASWDVRGSRGSGWSGPFGHQGPRAAGSREPPLCFKIKNNMVGVVIGYSGSKIKDLQHSTNTKIQIINGESEAKVRIFGNREMKAKA
KAAIETLIRKQESYNSESSVDNAASQTPIGRNLGRNDIVGEAEPLSNWDRIRAAVVECEKRKWADLPPVKKNFYIESKATSCMSEMQVINWRKENFNITCDDLKS
GEKRLIPKPTCRFKDAFQQYPDLLKSIIRVGIVKPTPIQSQAWPIILQGIDLIVVAQTGTGKTLSYLMPGFIHLDSQPISREQRNGPGMLVLTPTRELALHVEAE
CSKYSYKGLKSICIYGGRNRNGQIEDISKGVDIIIATPGRLNDLQMNNSVNLRSITYLVIDEADKMLDMEFEPQIRKILLDVRPDRQTVMTSATWPDTVRQLALS
YLKDPMIVYVGNLNLVAVNTVKQNIIVTTEKEKRALTQEFVENMSPNDKVIMFVSQKHIADDLSSDFNIQGISAESLHGNSEQSDQERAVEDFKSGNIKILITTD
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MSHWAPEWKRAEANPRDLGASWDVRGSRGSGWSGPFGHQGPRAAGSREPPLCFKIKNNMVGVVIGYSGSKIKDLQHSTNTKIQIINGESEAKVRIFGNREMKAKA
KAAIETLIRKQESYNSESSVDNAASQTPIGRNLGRNDIVGEAEPLSNWDRIRAAVVECEKRKWADLPPVKKNFYIESKATSCMSEMQVINWRKENFNITCDDLKS
GEKRLIPKPTCRFKDAFQQYPDLLKSIIRVGIVKPTPIQSQAWPIILQGIDLIVVAQTGTGKTLSYLMPGFIHLDSQPISREQRNGPGMLVLTPTRELALHVEAE
CSKYSYKGLKSICIYGGRNRNGQIEDISKGVDIIIATPGRLNDLQMNNSVNLRSITYLVIDEADKMLDMEFEPQIRKILLDVRPDRQTVMTSATWPDTVRQLALS
YLKDPMIVYVGNLNLVAVNTVKQNIIVTTEKEKRALTQEFVENMSPNDKVIMFVSQKHIADDLSSDFNIQGISAESLHGNSEQSDQERAVEDFKSGNIKILITTD
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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) | 1 (6) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (7) |
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 |
| Vazna, 2010 | Czech | aCGH | |  | ASD | - | - | - | - | 1 | - | 1 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top