Evidence Details for CCDC137
Basic Information Top
| Gene Symbol: | CCDC137 ( MGC16597 ) |
|---|---|
| Gene Full Name: | coiled-coil domain containing 137 |
| Band: | 17q25.3 |
| Quick Links | Entrez ID:339230; OMIM: NA; Uniprot ID:CC137_HUMAN; ENSEMBL ID: ENSG00000185298; HGNC ID: 33451 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CCDC137|339230|nucleotide
ATGGCGGGAGCTGGTCGCGGAGCAGCGGTGTCCAGGGTGCAGGCGGGTCCTGGGAGTCCCCGGCGAGCGCGGGGGCGGCAGCAAGTGCAGCCGCTGGGGAAGCAG
CGCCCAGCCCCGTGGCCCGGGCTTCGCAGCAAAGAGAAGAAGAAAGTGAACTGCAAGCCCAAGAACCAGGACGAACAGGAGATTCCTTTCCGGCTCCGGGAGATT
ATGAGGAGCCGCCAAGAGATGAAAAACCCGATCAGTAACAAGAAGAGGAAGAAAGCAGCCCAGGTGACCTTCAGAAAGACATTGGAGAAGGAAGCAAAGGGAGAG
GAGCCCGACATCGCAGTCCCCAAGTTCAAACAGAGGAAGGGGGAGTCCGACGGGGCCTATATCCACCGCATGCAGCAAGAGGCCCAGCATGTGCTGTTCCTCAGC
AAGAACCAGGCCATCCGGCAGCCAGAGGTGCAGGCAGCTCCCAAGGAGAAGTCTGAGCAGAAAAAAGCAAAAAAAGCGTTCCAGAAGCGGCGACTAGATAAAGTC
CGACGGAAAAAGGAGGAAAAGGCGGCAGACAGGCTGGAGCAGGAGTTGCTCCGAGACACGGTGAAGTTTGGTGAGGTTGTCCTGCAGCCCCCAGAGCTGACTGCC
AGGCCCCAGAGGAGCGTAAGCAAGGACCAGCCTGGCAGGAGATCGCAGATGCTGCGGATGCTTCTGAGCCCCGGTGGTGTGTCCCAGCCTCTGACCGCCTCCCTG
GCCCGCCAGCGGATTGTGGAGGAGGAGAGAGAGCGGGCCGTGCAGGCCTACAGAGCGTTGAAGCAGCGGCAGCAGCAGCTGCACGGGGAGCGACCCCACCTCACT
TCCCGGAAGAAGCCAGAGCCGCAGCTGTGA
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ATGGCGGGAGCTGGTCGCGGAGCAGCGGTGTCCAGGGTGCAGGCGGGTCCTGGGAGTCCCCGGCGAGCGCGGGGGCGGCAGCAAGTGCAGCCGCTGGGGAAGCAG
CGCCCAGCCCCGTGGCCCGGGCTTCGCAGCAAAGAGAAGAAGAAAGTGAACTGCAAGCCCAAGAACCAGGACGAACAGGAGATTCCTTTCCGGCTCCGGGAGATT
ATGAGGAGCCGCCAAGAGATGAAAAACCCGATCAGTAACAAGAAGAGGAAGAAAGCAGCCCAGGTGACCTTCAGAAAGACATTGGAGAAGGAAGCAAAGGGAGAG
GAGCCCGACATCGCAGTCCCCAAGTTCAAACAGAGGAAGGGGGAGTCCGACGGGGCCTATATCCACCGCATGCAGCAAGAGGCCCAGCATGTGCTGTTCCTCAGC
AAGAACCAGGCCATCCGGCAGCCAGAGGTGCAGGCAGCTCCCAAGGAGAAGTCTGAGCAGAAAAAAGCAAAAAAAGCGTTCCAGAAGCGGCGACTAGATAAAGTC
CGACGGAAAAAGGAGGAAAAGGCGGCAGACAGGCTGGAGCAGGAGTTGCTCCGAGACACGGTGAAGTTTGGTGAGGTTGTCCTGCAGCCCCCAGAGCTGACTGCC
AGGCCCCAGAGGAGCGTAAGCAAGGACCAGCCTGGCAGGAGATCGCAGATGCTGCGGATGCTTCTGAGCCCCGGTGGTGTGTCCCAGCCTCTGACCGCCTCCCTG
GCCCGCCAGCGGATTGTGGAGGAGGAGAGAGAGCGGGCCGTGCAGGCCTACAGAGCGTTGAAGCAGCGGCAGCAGCAGCTGCACGGGGAGCGACCCCACCTCACT
TCCCGGAAGAAGCCAGAGCCGCAGCTGTGA
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>CCDC137|339230|protein
MAGAGRGAAVSRVQAGPGSPRRARGRQQVQPLGKQRPAPWPGLRSKEKKKVNCKPKNQDEQEIPFRLREIMRSRQEMKNPISNKKRKKAAQVTFRKTLEKEAKGE
EPDIAVPKFKQRKGESDGAYIHRMQQEAQHVLFLSKNQAIRQPEVQAAPKEKSEQKKAKKAFQKRRLDKVRRKKEEKAADRLEQELLRDTVKFGEVVLQPPELTA
RPQRSVSKDQPGRRSQMLRMLLSPGGVSQPLTASLARQRIVEEERERAVQAYRALKQRQQQLHGERPHLTSRKKPEPQL
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MAGAGRGAAVSRVQAGPGSPRRARGRQQVQPLGKQRPAPWPGLRSKEKKKVNCKPKNQDEQEIPFRLREIMRSRQEMKNPISNKKRKKAAQVTFRKTLEKEAKGE
EPDIAVPKFKQRKGESDGAYIHRMQQEAQHVLFLSKNQAIRQPEVQAAPKEKSEQKKAKKAFQKRRLDKVRRKKEEKAADRLEQELLRDTVKFGEVVLQPPELTA
RPQRSVSKDQPGRRSQMLRMLLSPGGVSQPLTASLARQRIVEEERERAVQAYRALKQRQQQLHGERPHLTSRKKPEPQL
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (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 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top