Evidence Details for DDRGK1
Basic Information Top
| Gene Symbol: | DDRGK1 ( C20orf116,MGC2592,dJ1187M17.3 ) |
|---|---|
| Gene Full Name: | DDRGK domain containing 1 |
| Band: | 20p13 |
| Quick Links | Entrez ID:65992; OMIM: NA; Uniprot ID:DDRGK_HUMAN; ENSEMBL ID: ENSG00000198171; HGNC ID: 16110 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>DDRGK1|65992|nucleotide
ATGGTGGCGCCTGTGTGGTACTTGGTAGCGGCGGCTCTGCTAGTCGGCTTTATCCTCTTCCTGACTCGCAGCCGGGGCCGGGCGGCATCAGCCGGCCAAGAGCCA
CTGCACAATGAGGAGCTGGCAGGAGCAGGCCGGGTGGCCCAGCCTGGGCCCCTGGAGCCTGAGGAGCCGAGAGCTGGAGGCAGGCCTCGGCGCCGGAGGGACCTG
GGCAGCCGCCTACAGGCCCAGCGTCGAGCCCAGCGGGTGGCCTGGGCAGAAGCAGATGAGAACGAGGAGGAAGCTGTCATCCTAGCCCAGGAGGAGGAAGGTGTC
GAGAAGCCAGCGGAAACTCACCTGTCGGGGAAAATTGGAGCTAAGAAACTGCGGAAGCTGGAGGAGAAACAAGCGCGAAAGGCCCAGCGTGAGGCAGAGGAGGCT
GAACGTGAGGAGCGGAAACGACTCGAGTCCCAGCGCGAAGCTGAGTGGAAGAAGGAGGAGGAGCGGCTTCGCCTGGAGGAGGAGCAGAAGGAGGAGGAGGAGAGG
AAGGCCCGCGAGGAGCAGGCCCAGCGGGAGCATGAGGAGTACCTGAAACTGAAGGAGGCCTTTGTGGTGGAGGAGGAAGGCGTAGGAGAGACCATGACTGAGGAA
CAGTCCCAGAGCTTCCTGACAGAGTTCATCAACTACATCAAGCAGTCCAAGGTTGTGCTCTTGGAAGACCTGGCTTCCCAGGTGGGCCTACGCACTCAGGACACC
ATAAATCGCATCCAGGACCTGCTGGCTGAGGGGACTATAACAGGTGTGATTGACGACCGGGGCAAGTTCATCTACATAACCCCAGAGGAACTGGCCGCCGTGGCC
AACTTCATCCGACAGCGGGGCCGGGTGTCCATCGCCGAGCTTGCCCAAGCCAGCAACTCCCTCATCGCCTGGGGCCGGGAGTCCCCTGCCCAAGCCCCAGCCTGA
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ATGGTGGCGCCTGTGTGGTACTTGGTAGCGGCGGCTCTGCTAGTCGGCTTTATCCTCTTCCTGACTCGCAGCCGGGGCCGGGCGGCATCAGCCGGCCAAGAGCCA
CTGCACAATGAGGAGCTGGCAGGAGCAGGCCGGGTGGCCCAGCCTGGGCCCCTGGAGCCTGAGGAGCCGAGAGCTGGAGGCAGGCCTCGGCGCCGGAGGGACCTG
GGCAGCCGCCTACAGGCCCAGCGTCGAGCCCAGCGGGTGGCCTGGGCAGAAGCAGATGAGAACGAGGAGGAAGCTGTCATCCTAGCCCAGGAGGAGGAAGGTGTC
GAGAAGCCAGCGGAAACTCACCTGTCGGGGAAAATTGGAGCTAAGAAACTGCGGAAGCTGGAGGAGAAACAAGCGCGAAAGGCCCAGCGTGAGGCAGAGGAGGCT
GAACGTGAGGAGCGGAAACGACTCGAGTCCCAGCGCGAAGCTGAGTGGAAGAAGGAGGAGGAGCGGCTTCGCCTGGAGGAGGAGCAGAAGGAGGAGGAGGAGAGG
AAGGCCCGCGAGGAGCAGGCCCAGCGGGAGCATGAGGAGTACCTGAAACTGAAGGAGGCCTTTGTGGTGGAGGAGGAAGGCGTAGGAGAGACCATGACTGAGGAA
CAGTCCCAGAGCTTCCTGACAGAGTTCATCAACTACATCAAGCAGTCCAAGGTTGTGCTCTTGGAAGACCTGGCTTCCCAGGTGGGCCTACGCACTCAGGACACC
ATAAATCGCATCCAGGACCTGCTGGCTGAGGGGACTATAACAGGTGTGATTGACGACCGGGGCAAGTTCATCTACATAACCCCAGAGGAACTGGCCGCCGTGGCC
AACTTCATCCGACAGCGGGGCCGGGTGTCCATCGCCGAGCTTGCCCAAGCCAGCAACTCCCTCATCGCCTGGGGCCGGGAGTCCCCTGCCCAAGCCCCAGCCTGA
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>DDRGK1|65992|protein
MVAPVWYLVAAALLVGFILFLTRSRGRAASAGQEPLHNEELAGAGRVAQPGPLEPEEPRAGGRPRRRRDLGSRLQAQRRAQRVAWAEADENEEEAVILAQEEEGV
EKPAETHLSGKIGAKKLRKLEEKQARKAQREAEEAEREERKRLESQREAEWKKEEERLRLEEEQKEEEERKAREEQAQREHEEYLKLKEAFVVEEEGVGETMTEE
QSQSFLTEFINYIKQSKVVLLEDLASQVGLRTQDTINRIQDLLAEGTITGVIDDRGKFIYITPEELAAVANFIRQRGRVSIAELAQASNSLIAWGRESPAQAPA
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MVAPVWYLVAAALLVGFILFLTRSRGRAASAGQEPLHNEELAGAGRVAQPGPLEPEEPRAGGRPRRRRDLGSRLQAQRRAQRVAWAEADENEEEAVILAQEEEGV
EKPAETHLSGKIGAKKLRKLEEKQARKAQREAEEAEREERKRLESQREAEWKKEEERLRLEEEQKEEEERKAREEQAQREHEEYLKLKEAFVVEEEGVGETMTEE
QSQSFLTEFINYIKQSKVVLLEDLASQVGLRTQDTINRIQDLLAEGTITGVIDDRGKFIYITPEELAAVANFIRQRGRVSIAELAQASNSLIAWGRESPAQAPA
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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) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (3) |
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 | ||||||
| Sebat, 2007 | USA | aCGH |  |  | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top