Evidence Details for CCDC94
Basic Information Top
| Gene Symbol: | CCDC94 ( FLJ10374 ) |
|---|---|
| Gene Full Name: | coiled-coil domain containing 94 |
| Band: | 19p13.3 |
| Quick Links | Entrez ID:55702; OMIM: NA; Uniprot ID:CCD94_HUMAN; ENSEMBL ID: ENSG00000105248; HGNC ID: 25518 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CCDC94|55702|nucleotide
ATGTCGGAGCGAAAAGTATTAAACAAATACTACCCGCCGGACTTTGACCCATCAAAGATCCCCAAACTCAAGCTCCCCAAAGACCGGCAGTACGTGGTGCGGCTG
ATGGCCCCCTTCAACATGAGGTGTAAGACGTGCGGAGAATACATCTACAAGGGGAAGAAATTCAATGCTCGGAAGGAGACGGTGCAGAACGAGGTCTACCTGGGC
CTGCCCATCTTCCGCTTTTACATCAAGTGCACGCGCTGCCTGGCAGAGATCACCTTCAAGACAGACCCTGAAAACACAGACTACACCATGGAGCATGGAGCCACG
CGGAATTTCCAGGCTGAGAAGCTCCTGGAGGAGGAGGAGAAGAGGGTGCAGAAGGAGCGGGAGGACGAGGAGCTGAACAACCCCATGAAGGTGCTGGAGAACCGG
ACCAAGGACTCCAAGCTGGAGATGGAGGTGCTGGAGAACCTCCAGGAGCTGAAAGACCTGAACCAGCGGCAGGCGCACGTGGACTTCGAGGCTATGCTGAGGCAG
CACCGCCTGTCGGAGGAGGAGCGGCGGAGGCAGCAGCAGGAGGAGGACGAGCAGGAGACCGCGGCCCTGTTGGAGGAAGCCAGAAAGCGAAGACTGCTGGAGGAC
TCCGACTCAGAGGATGAGGCTGCTCCCTCGCCCCTGCAGCCAGCCCTTCGGCCCAACCCCACCGCCATCCTGGATGAGGCCCCAAAGCCCAAGAGGAAGGTGGAG
GTCTGGGAGCAGAGCGTTGGCAGCCTGGGCAGCCGGCCCCCGCTGTCGAGGCTGGTCGTGGTGAAGAAGGCAAAGGCCGACCCGGACTGCAGCAACGGGCAGCCT
CAGGCGGCCCCCACCCCAGGAGCCCCGCAGAACAGGAAGGAGGCCAACCCTACACCCCTGACGCCTGGCGCGTCCTCCCTGAGCCAACTGGGTGCATACCTGGAC
AGTGACGACAGCAACGGCAGCAACTGA
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ATGTCGGAGCGAAAAGTATTAAACAAATACTACCCGCCGGACTTTGACCCATCAAAGATCCCCAAACTCAAGCTCCCCAAAGACCGGCAGTACGTGGTGCGGCTG
ATGGCCCCCTTCAACATGAGGTGTAAGACGTGCGGAGAATACATCTACAAGGGGAAGAAATTCAATGCTCGGAAGGAGACGGTGCAGAACGAGGTCTACCTGGGC
CTGCCCATCTTCCGCTTTTACATCAAGTGCACGCGCTGCCTGGCAGAGATCACCTTCAAGACAGACCCTGAAAACACAGACTACACCATGGAGCATGGAGCCACG
CGGAATTTCCAGGCTGAGAAGCTCCTGGAGGAGGAGGAGAAGAGGGTGCAGAAGGAGCGGGAGGACGAGGAGCTGAACAACCCCATGAAGGTGCTGGAGAACCGG
ACCAAGGACTCCAAGCTGGAGATGGAGGTGCTGGAGAACCTCCAGGAGCTGAAAGACCTGAACCAGCGGCAGGCGCACGTGGACTTCGAGGCTATGCTGAGGCAG
CACCGCCTGTCGGAGGAGGAGCGGCGGAGGCAGCAGCAGGAGGAGGACGAGCAGGAGACCGCGGCCCTGTTGGAGGAAGCCAGAAAGCGAAGACTGCTGGAGGAC
TCCGACTCAGAGGATGAGGCTGCTCCCTCGCCCCTGCAGCCAGCCCTTCGGCCCAACCCCACCGCCATCCTGGATGAGGCCCCAAAGCCCAAGAGGAAGGTGGAG
GTCTGGGAGCAGAGCGTTGGCAGCCTGGGCAGCCGGCCCCCGCTGTCGAGGCTGGTCGTGGTGAAGAAGGCAAAGGCCGACCCGGACTGCAGCAACGGGCAGCCT
CAGGCGGCCCCCACCCCAGGAGCCCCGCAGAACAGGAAGGAGGCCAACCCTACACCCCTGACGCCTGGCGCGTCCTCCCTGAGCCAACTGGGTGCATACCTGGAC
AGTGACGACAGCAACGGCAGCAACTGA
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>CCDC94|55702|protein
MSERKVLNKYYPPDFDPSKIPKLKLPKDRQYVVRLMAPFNMRCKTCGEYIYKGKKFNARKETVQNEVYLGLPIFRFYIKCTRCLAEITFKTDPENTDYTMEHGAT
RNFQAEKLLEEEEKRVQKEREDEELNNPMKVLENRTKDSKLEMEVLENLQELKDLNQRQAHVDFEAMLRQHRLSEEERRRQQQEEDEQETAALLEEARKRRLLED
SDSEDEAAPSPLQPALRPNPTAILDEAPKPKRKVEVWEQSVGSLGSRPPLSRLVVVKKAKADPDCSNGQPQAAPTPGAPQNRKEANPTPLTPGASSLSQLGAYLD
SDDSNGSN
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MSERKVLNKYYPPDFDPSKIPKLKLPKDRQYVVRLMAPFNMRCKTCGEYIYKGKKFNARKETVQNEVYLGLPIFRFYIKCTRCLAEITFKTDPENTDYTMEHGAT
RNFQAEKLLEEEEKRVQKEREDEELNNPMKVLENRTKDSKLEMEVLENLQELKDLNQRQAHVDFEAMLRQHRLSEEERRRQQQEEDEQETAALLEEARKRRLLED
SDSEDEAAPSPLQPALRPNPTAILDEAPKPKRKVEVWEQSVGSLGSRPPLSRLVVVKKAKADPDCSNGQPQAAPTPGAPQNRKEANPTPLTPGASSLSQLGAYLD
SDDSNGSN
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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 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 3 (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 | ||||||
| Gregory, 2009 | USA | aCGH |  |  | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies Top