Evidence Details for CCDC50
Basic Information Top
| Gene Symbol: | CCDC50 ( C3orf6,DFNA44,YMER ) |
|---|---|
| Gene Full Name: | coiled-coil domain containing 50 |
| Band: | 3q28 |
| Quick Links | Entrez ID:152137; OMIM: 611051; Uniprot ID:CCD50_HUMAN; ENSEMBL ID: ENSG00000152492; HGNC ID: 18111 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CCDC50|152137|nucleotide
ATGGCTGAAGTCAGCATCGACCAGTCCAAGCTGCCTGGAGTCAAGGAAGTATGCCGAGATTTTGCTGTCCTGGAGGACCACACCCTGGCTCACAGCCTGCAGGAA
CAAGAGATTGAGCATCATTTGGCATCGAACGTTCAGCGGAACCGTTTGGTCCAGCATGATCTCCAGGTGGCTAAGCAGCTCCAAGAGGAAGATCTGAAAGCGCAG
GCCCAGCTCCAGAAGCGCTACAAAGACCTTGAACAACAAGACTGTGAAATTGCTCAGGAAATTCAGGAGAAGCTGGCTATTGAGGCAGAGAGACGACGCATTCAG
GAGAAGAAGGATGAGGACATAGCTCGCCTTTTGCAAGAAAAGGAGTTACAGGAAGAGAAAAAGAGAAAGAAACACTTTCCAGAGTTCCCTGCAACCCGTGCTTAT
GCAGATAGTTACTATTATGAAGATGGAGGAATGAAGCCAAGAGTGATGAAAGAAGCTGTATCTACTCCATCACGAATGGCCCACAGGGATCAGGAATGGTATGAT
GCTGAAATTGCCAGAAAACTGCAAGAAGAAGAACTTTTGGCTACCCAGGTGGACATGAGAGCCGCTCAAGTAGCTCAAGATGAAGAAATCGCTCGACTTCTAATG
GCTGAAGAAAAGAAAGCTTACAAAAAAGCCAAGGAGCGGGAGAAATCATCTTTGGACAAAAGAAAGCAAGACCCCGAGTGGAAGCCAAAAACAGCTAAAGCAGCA
AATTCCAAGTCAAAAGAGAGTGATGAACCTCACCATTCTAAGAATGAAAGGCCAGCACGGCCACCACCACCTATCATGACAGATGGTGAAGATGCGGATTACACT
CATTTTACAAACCAGCAGAGTTCCACACGGCATTTCTCAAAATCAGAGTCCTCTCATAAAGGTTTTCATTACAAACATTAA
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ATGGCTGAAGTCAGCATCGACCAGTCCAAGCTGCCTGGAGTCAAGGAAGTATGCCGAGATTTTGCTGTCCTGGAGGACCACACCCTGGCTCACAGCCTGCAGGAA
CAAGAGATTGAGCATCATTTGGCATCGAACGTTCAGCGGAACCGTTTGGTCCAGCATGATCTCCAGGTGGCTAAGCAGCTCCAAGAGGAAGATCTGAAAGCGCAG
GCCCAGCTCCAGAAGCGCTACAAAGACCTTGAACAACAAGACTGTGAAATTGCTCAGGAAATTCAGGAGAAGCTGGCTATTGAGGCAGAGAGACGACGCATTCAG
GAGAAGAAGGATGAGGACATAGCTCGCCTTTTGCAAGAAAAGGAGTTACAGGAAGAGAAAAAGAGAAAGAAACACTTTCCAGAGTTCCCTGCAACCCGTGCTTAT
GCAGATAGTTACTATTATGAAGATGGAGGAATGAAGCCAAGAGTGATGAAAGAAGCTGTATCTACTCCATCACGAATGGCCCACAGGGATCAGGAATGGTATGAT
GCTGAAATTGCCAGAAAACTGCAAGAAGAAGAACTTTTGGCTACCCAGGTGGACATGAGAGCCGCTCAAGTAGCTCAAGATGAAGAAATCGCTCGACTTCTAATG
GCTGAAGAAAAGAAAGCTTACAAAAAAGCCAAGGAGCGGGAGAAATCATCTTTGGACAAAAGAAAGCAAGACCCCGAGTGGAAGCCAAAAACAGCTAAAGCAGCA
AATTCCAAGTCAAAAGAGAGTGATGAACCTCACCATTCTAAGAATGAAAGGCCAGCACGGCCACCACCACCTATCATGACAGATGGTGAAGATGCGGATTACACT
CATTTTACAAACCAGCAGAGTTCCACACGGCATTTCTCAAAATCAGAGTCCTCTCATAAAGGTTTTCATTACAAACATTAA
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>CCDC50|152137|protein
MAEVSIDQSKLPGVKEVCRDFAVLEDHTLAHSLQEQEIEHHLASNVQRNRLVQHDLQVAKQLQEEDLKAQAQLQKRYKDLEQQDCEIAQEIQEKLAIEAERRRIQ
EKKDEDIARLLQEKELQEEKKRKKHFPEFPATRAYADSYYYEDGGMKPRVMKEAVSTPSRMAHRDQEWYDAEIARKLQEEELLATQVDMRAAQVAQDEEIARLLM
AEEKKAYKKAKEREKSSLDKRKQDPEWKPKTAKAANSKSKESDEPHHSKNERPARPPPPIMTDGEDADYTHFTNQQSSTRHFSKSESSHKGFHYKH
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MAEVSIDQSKLPGVKEVCRDFAVLEDHTLAHSLQEQEIEHHLASNVQRNRLVQHDLQVAKQLQEEDLKAQAQLQKRYKDLEQQDCEIAQEIQEKLAIEAERRRIQ
EKKDEDIARLLQEKELQEEKKRKKHFPEFPATRAYADSYYYEDGGMKPRVMKEAVSTPSRMAHRDQEWYDAEIARKLQEEELLATQVDMRAAQVAQDEEIARLLM
AEEKKAYKKAKEREKSSLDKRKQDPEWKPKTAKAANSKSKESDEPHHSKNERPARPPPPIMTDGEDADYTHFTNQQSSTRHFSKSESSHKGFHYKH
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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 (3) | 0 (0) | 0 (0) | 3 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (6) |
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 | ||||||
| Jacquemont, 2006 | France | aCGH |  | | ASD | - | - | - | - | 29 | - | 29 |
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top