Evidence Details for DDX17
Basic Information Top
| Gene Symbol: | DDX17 ( DKFZp761H2016,P72,RH70 ) |
|---|---|
| Gene Full Name: | DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 |
| Band: | 22q13.1 |
| Quick Links | Entrez ID:10521; OMIM: 608469; Uniprot ID:DDX17_HUMAN; ENSEMBL ID: ENSG00000100201; HGNC ID: 2740 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>DDX17|10521|nucleotide
CTGCCCACCGGCTTTGTAGCCCCGATTCTCTGTGTTTTGCTCCCGTCTCCGACGAGAGAGGCGGCGACGGTGGCGTCTGCGACGGGAGACAGCGCGTCGGAGCGA
GAGAGCGCTGCGCCTGCCGCCGCCCCAACAGCGGAGGCGCCGCCGCCATCGGTCGTCACCAGACCGGAGCCGCAGGCCCTCCCGAGCCCGGCCATCCGTGCCCCG
CTCCCAGATCTCTATCCTTTTGGGACCATGCGCGGAGGAGGCTTTGGGGACCGGGACCGGGATCGTGACCGTGGAGGATTTGGAGCAAGAGGTGGTGGTGGCCTT
CCCCCGAAGAAATTTGGTAATCCTGGGGAGCGTTTGCGTAAAAAAAAGTGGGATTTGAGTGAGCTCCCCAAGTTTGAGAAAAATTTTTATGTGGAACATCCGGAA
GTAGCAAGGCTGACACCATATGAGGTTGATGAGCTACGCCGAAAGAAGGAGATTACAGTGAGGGGGGGAGATGTTTGTCCTAAACCCGTGTTTGCCTTCCATCAT
GCTAACTTCCCACAATATGTAATGGATGTGTTGATGGATCAGCACTTTACAGAACCAACTCCAATTCAGTGCCAGGGATTTCCGTTGGCTCTTAGTGGCCGGGAT
ATGGTGGGCATTGCTCAGACTGGCTCTGGGAAGACGTTGGCGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCA
ATCTGTCTAGTTCTGGCTCCTACCAGAGAGCTTGCCCAGCAAGTACAGCAGGTGGCCGATGACTATGGCAAATGTTCTAGATTGAAGAGTACTTGTATTTATGGA
GGTGCTCCTAAAGGTCCCCAGATTCGAGACTTGGAAAGAGGTGTTGAGATCTGCATAGCCACTCCTGGACGTCTGATAGATTTCCTGGAGTCAGGAAAGACAAAT
CTTCGCCGATGTACTTACCTTGTATTGGACGAAGCTGACAGAATGCTTGATATGGGGTTTGAACCCCAGATCCGTAAAATTGTTGACCAAATCAGGCCTGATAGG
CAGACACTGATGTGGAGTGCAACCTGGCCAAAAGAAGTAAGACAGCTTGCAGAGGATTTCCTTCGTGATTACACCCAGATCAACGTAGGCAATCTGGAGTTGAGT
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CTGCCCACCGGCTTTGTAGCCCCGATTCTCTGTGTTTTGCTCCCGTCTCCGACGAGAGAGGCGGCGACGGTGGCGTCTGCGACGGGAGACAGCGCGTCGGAGCGA
GAGAGCGCTGCGCCTGCCGCCGCCCCAACAGCGGAGGCGCCGCCGCCATCGGTCGTCACCAGACCGGAGCCGCAGGCCCTCCCGAGCCCGGCCATCCGTGCCCCG
CTCCCAGATCTCTATCCTTTTGGGACCATGCGCGGAGGAGGCTTTGGGGACCGGGACCGGGATCGTGACCGTGGAGGATTTGGAGCAAGAGGTGGTGGTGGCCTT
CCCCCGAAGAAATTTGGTAATCCTGGGGAGCGTTTGCGTAAAAAAAAGTGGGATTTGAGTGAGCTCCCCAAGTTTGAGAAAAATTTTTATGTGGAACATCCGGAA
GTAGCAAGGCTGACACCATATGAGGTTGATGAGCTACGCCGAAAGAAGGAGATTACAGTGAGGGGGGGAGATGTTTGTCCTAAACCCGTGTTTGCCTTCCATCAT
GCTAACTTCCCACAATATGTAATGGATGTGTTGATGGATCAGCACTTTACAGAACCAACTCCAATTCAGTGCCAGGGATTTCCGTTGGCTCTTAGTGGCCGGGAT
ATGGTGGGCATTGCTCAGACTGGCTCTGGGAAGACGTTGGCGTATCTCCTGCCTGCAATTGTTCATATTAACCACCAGCCATACTTGGAAAGGGGAGATGGCCCA
ATCTGTCTAGTTCTGGCTCCTACCAGAGAGCTTGCCCAGCAAGTACAGCAGGTGGCCGATGACTATGGCAAATGTTCTAGATTGAAGAGTACTTGTATTTATGGA
GGTGCTCCTAAAGGTCCCCAGATTCGAGACTTGGAAAGAGGTGTTGAGATCTGCATAGCCACTCCTGGACGTCTGATAGATTTCCTGGAGTCAGGAAAGACAAAT
CTTCGCCGATGTACTTACCTTGTATTGGACGAAGCTGACAGAATGCTTGATATGGGGTTTGAACCCCAGATCCGTAAAATTGTTGACCAAATCAGGCCTGATAGG
CAGACACTGATGTGGAGTGCAACCTGGCCAAAAGAAGTAAGACAGCTTGCAGAGGATTTCCTTCGTGATTACACCCAGATCAACGTAGGCAATCTGGAGTTGAGT
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>DDX17|10521|protein
MPTGFVAPILCVLLPSPTREAATVASATGDSASERESAAPAAAPTAEAPPPSVVTRPEPQALPSPAIRAPLPDLYPFGTMRGGGFGDRDRDRDRGGFGARGGGGL
PPKKFGNPGERLRKKKWDLSELPKFEKNFYVEHPEVARLTPYEVDELRRKKEITVRGGDVCPKPVFAFHHANFPQYVMDVLMDQHFTEPTPIQCQGFPLALSGRD
MVGIAQTGSGKTLAYLLPAIVHINHQPYLERGDGPICLVLAPTRELAQQVQQVADDYGKCSRLKSTCIYGGAPKGPQIRDLERGVEICIATPGRLIDFLESGKTN
LRRCTYLVLDEADRMLDMGFEPQIRKIVDQIRPDRQTLMWSATWPKEVRQLAEDFLRDYTQINVGNLELSANHNILQIVDVCMESEKDHKLIQLMEEIMAEKENK
TIIFVETKRRCDDLTRRMRRDGWPAMCIHGDKSQPERDWVLNEFRSGKAPILIATDVASRGLDVEDVKFVINYDYPNSSEDYVHRIGRTARSTNKGTAYTFFTPG
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MPTGFVAPILCVLLPSPTREAATVASATGDSASERESAAPAAAPTAEAPPPSVVTRPEPQALPSPAIRAPLPDLYPFGTMRGGGFGDRDRDRDRGGFGARGGGGL
PPKKFGNPGERLRKKKWDLSELPKFEKNFYVEHPEVARLTPYEVDELRRKKEITVRGGDVCPKPVFAFHHANFPQYVMDVLMDQHFTEPTPIQCQGFPLALSGRD
MVGIAQTGSGKTLAYLLPAIVHINHQPYLERGDGPICLVLAPTRELAQQVQQVADDYGKCSRLKSTCIYGGAPKGPQIRDLERGVEICIATPGRLIDFLESGKTN
LRRCTYLVLDEADRMLDMGFEPQIRKIVDQIRPDRQTLMWSATWPKEVRQLAEDFLRDYTQINVGNLELSANHNILQIVDVCMESEKDHKLIQLMEEIMAEKENK
TIIFVETKRRCDDLTRRMRRDGWPAMCIHGDKSQPERDWVLNEFRSGKAPILIATDVASRGLDVEDVKFVINYDYPNSSEDYVHRIGRTARSTNKGTAYTFFTPG
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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 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 3 (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 | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
Linkage Studies Top