Evidence Details for CCDC127
Basic Information Top
| Gene Symbol: | CCDC127 ( FLJ25701 ) |
|---|---|
| Gene Full Name: | coiled-coil domain containing 127 |
| Band: | 5p15.33 |
| Quick Links | Entrez ID:133957; OMIM: NA; Uniprot ID:CC127_HUMAN; ENSEMBL ID: ENSG00000164366; HGNC ID: 30520 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CCDC127|133957|nucleotide
ATGAATAACCTAAATGATCCCCCAAATTGGAATATCCGGCCTAATTCCAGGGCGGATGGTGGTGATGGAAGCAGGTGGAATTATGCCCTGTTGGTTCCAATGCTG
GGATTGGCTGCTTTTCGTTGGATTTGGTCTAGGGAGTCCCAGAAAGAAGTAGAAAAAGAGAGAGAAGCCTACCGTCGGAGAACTGCTGCTTTTCAACAGGATCTG
GAAGCCAAGTACCACGCCATGATCTCAGAAAATCGGCGTGCTGTCGCTCAGTTGTCCTTGGAACTCGAAAAGGAACAAAACAGAACTGCTAGTTACCGAGAAGCC
CTTATCTCTCAGGGACGCAAGTTGGTAGAAGAAAAGAAGCTTCTGGAACAGGAACGGGCCCAGGTGATGCAAGAAAAAAGACAGGTGCAGCCTTTGAGAAGTGCG
TATTTGAGCTGCCTGCAAAGGGAAGAAAACTGGCAAAGGAGAGCCAGGCTTTTGCTGAAAGAATTTGAAGCTGTTCTCACAGAAAGACAGAATATCTACTGCAGT
CTGTTTCTTCCTCGCAGCAAGCGGCTGGAGATAGAGAAGAGCTTACTGGTGCGAGCGTCCGTCGACCCCGTCGCCGCTGACCTAGAGATGGCAGCCGGTCTCACC
GACATATTTCAGCATGATACATACTGTGGTGATGTCTGGAACACCAACAAACGCCAGAATGGCAGACTCATGTGGCTCTATCTCAAATACTGGGAACTCGTTGTC
GAACTGAAGAAGTTTAAGAGAGTAGAGGAAGCCATACTAGAAAAGTAA
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ATGAATAACCTAAATGATCCCCCAAATTGGAATATCCGGCCTAATTCCAGGGCGGATGGTGGTGATGGAAGCAGGTGGAATTATGCCCTGTTGGTTCCAATGCTG
GGATTGGCTGCTTTTCGTTGGATTTGGTCTAGGGAGTCCCAGAAAGAAGTAGAAAAAGAGAGAGAAGCCTACCGTCGGAGAACTGCTGCTTTTCAACAGGATCTG
GAAGCCAAGTACCACGCCATGATCTCAGAAAATCGGCGTGCTGTCGCTCAGTTGTCCTTGGAACTCGAAAAGGAACAAAACAGAACTGCTAGTTACCGAGAAGCC
CTTATCTCTCAGGGACGCAAGTTGGTAGAAGAAAAGAAGCTTCTGGAACAGGAACGGGCCCAGGTGATGCAAGAAAAAAGACAGGTGCAGCCTTTGAGAAGTGCG
TATTTGAGCTGCCTGCAAAGGGAAGAAAACTGGCAAAGGAGAGCCAGGCTTTTGCTGAAAGAATTTGAAGCTGTTCTCACAGAAAGACAGAATATCTACTGCAGT
CTGTTTCTTCCTCGCAGCAAGCGGCTGGAGATAGAGAAGAGCTTACTGGTGCGAGCGTCCGTCGACCCCGTCGCCGCTGACCTAGAGATGGCAGCCGGTCTCACC
GACATATTTCAGCATGATACATACTGTGGTGATGTCTGGAACACCAACAAACGCCAGAATGGCAGACTCATGTGGCTCTATCTCAAATACTGGGAACTCGTTGTC
GAACTGAAGAAGTTTAAGAGAGTAGAGGAAGCCATACTAGAAAAGTAA
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>CCDC127|133957|protein
MNNLNDPPNWNIRPNSRADGGDGSRWNYALLVPMLGLAAFRWIWSRESQKEVEKEREAYRRRTAAFQQDLEAKYHAMISENRRAVAQLSLELEKEQNRTASYREA
LISQGRKLVEEKKLLEQERAQVMQEKRQVQPLRSAYLSCLQREENWQRRARLLLKEFEAVLTERQNIYCSLFLPRSKRLEIEKSLLVRASVDPVAADLEMAAGLT
DIFQHDTYCGDVWNTNKRQNGRLMWLYLKYWELVVELKKFKRVEEAILEK
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MNNLNDPPNWNIRPNSRADGGDGSRWNYALLVPMLGLAAFRWIWSRESQKEVEKEREAYRRRTAAFQQDLEAKYHAMISENRRAVAQLSLELEKEQNRTASYREA
LISQGRKLVEEKKLLEQERAQVMQEKRQVQPLRSAYLSCLQREENWQRRARLLLKEFEAVLTERQNIYCSLFLPRSKRLEIEKSLLVRASVDPVAADLEMAAGLT
DIFQHDTYCGDVWNTNKRQNGRLMWLYLKYWELVVELKKFKRVEEAILEK
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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 (0) | 0 (1) | 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 | ||||||
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top