Evidence Details for CCDC64
Basic Information Top
| Gene Symbol: | CCDC64 ( BICDR-1,FLJ26450,H_267D11.1 ) |
|---|---|
| Gene Full Name: | coiled-coil domain containing 64 |
| Band: | 12q24.23 |
| Quick Links | Entrez ID:92558; OMIM: NA; Uniprot ID:BICR1_HUMAN; ENSEMBL ID: ENSG00000135127; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CCDC64|92558|nucleotide
ATGTCCGCTTTCTGCCTGGGCTTGGTCGGCCGCGCTTCAGCACCCGCCGAGCCGGACAGCGCCTGCTGCATGGAGCTGCCCGCCGCGGCCGGGGACGCAGTCCGG
AGTCCCGCCGCCGCCGCCGCCCTCATCTTCCCCGGGGGCTCCGGGGAGCTAGAACTGGCGTTAGAGGAGGAGCTGGCGCTGCTGGCGGCCGGGGAGCGGCCGTCC
GACCCCGGGGAACACCCTCAGGCCGAGCCTGGGTCTCTGGCCGAGGGGGCCGGACCGCAGCCGCCGCCCTCCCAGGACCCCGAGCTGCTGTCGGTGATCCGACAG
AAGGAGAAGGATCTGGTGTTGGCGGCCCGGCTGGGTAAGGCGCTGCTCGAGAGGAACCAGGACATGAGCCGGCAGTACGAGCAGATGCATAAGGAGCTGACAGAC
AAGCTCGAGCACTTAGAGCAAGAGAAACATGAATTGAGAAGACGATTTGAGAACCGAGAAGGGGAGTGGGAAGGCCGAGTGTCAGAGCTGGAGAGTGATGTGAAG
CAGCTACAGGATGAGTTGGAGAGGCAGCAGATTCATCTGCGGGAAGCAGATCGAGAAAAATCACGGGCTGTCCAGGAACTGTCGGAACAGAACCAAAGGCTATTG
GATCAGCTCAGCAGGGCATCAGAAGTTGAGAGACAACTCTCCATGCAGGTCCACGCCCTCAGAGAAGACTTTCGGGAGAAAAACTCATCAACCAACCAGCACATT
ATCCGGCTGGAGAGCCTTCAGGCCGAGATCAAGATGCTGTCAGATCGGAAACGGGAGCTGGAGCATCGTCTCAGCGCTACTTTAGAGGAAAATGACCTGCTCCAA
GGGACCGTGGAGGAGCTACAGGACCGGGTGCTAATCCTGGAGAGGCAGGGCCATGACAAGGACCTACAGCTGCACCAAAGCCAGCTGGAGCTTCAGGAGGTGCGT
CTCTCCTGCCGACAGCTGCAGGTGAAGGTGGAAGAACTCACTGAGGAGAGGAGTCTGCAGAGCTCTGCCGCCACCAGCACATCCCTCCTGTCAGAGATCGAGCAG
AGCATGGAGGCTGAGGAGCTGGAGCAGGAGCGAGAGCAGCTGAGACTGCAGCTCTGGGAAGCCTACTGCCAGGTTCGCTATCTGTGCTCACACCTTCGAGGCAAT
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ATGTCCGCTTTCTGCCTGGGCTTGGTCGGCCGCGCTTCAGCACCCGCCGAGCCGGACAGCGCCTGCTGCATGGAGCTGCCCGCCGCGGCCGGGGACGCAGTCCGG
AGTCCCGCCGCCGCCGCCGCCCTCATCTTCCCCGGGGGCTCCGGGGAGCTAGAACTGGCGTTAGAGGAGGAGCTGGCGCTGCTGGCGGCCGGGGAGCGGCCGTCC
GACCCCGGGGAACACCCTCAGGCCGAGCCTGGGTCTCTGGCCGAGGGGGCCGGACCGCAGCCGCCGCCCTCCCAGGACCCCGAGCTGCTGTCGGTGATCCGACAG
AAGGAGAAGGATCTGGTGTTGGCGGCCCGGCTGGGTAAGGCGCTGCTCGAGAGGAACCAGGACATGAGCCGGCAGTACGAGCAGATGCATAAGGAGCTGACAGAC
AAGCTCGAGCACTTAGAGCAAGAGAAACATGAATTGAGAAGACGATTTGAGAACCGAGAAGGGGAGTGGGAAGGCCGAGTGTCAGAGCTGGAGAGTGATGTGAAG
CAGCTACAGGATGAGTTGGAGAGGCAGCAGATTCATCTGCGGGAAGCAGATCGAGAAAAATCACGGGCTGTCCAGGAACTGTCGGAACAGAACCAAAGGCTATTG
GATCAGCTCAGCAGGGCATCAGAAGTTGAGAGACAACTCTCCATGCAGGTCCACGCCCTCAGAGAAGACTTTCGGGAGAAAAACTCATCAACCAACCAGCACATT
ATCCGGCTGGAGAGCCTTCAGGCCGAGATCAAGATGCTGTCAGATCGGAAACGGGAGCTGGAGCATCGTCTCAGCGCTACTTTAGAGGAAAATGACCTGCTCCAA
GGGACCGTGGAGGAGCTACAGGACCGGGTGCTAATCCTGGAGAGGCAGGGCCATGACAAGGACCTACAGCTGCACCAAAGCCAGCTGGAGCTTCAGGAGGTGCGT
CTCTCCTGCCGACAGCTGCAGGTGAAGGTGGAAGAACTCACTGAGGAGAGGAGTCTGCAGAGCTCTGCCGCCACCAGCACATCCCTCCTGTCAGAGATCGAGCAG
AGCATGGAGGCTGAGGAGCTGGAGCAGGAGCGAGAGCAGCTGAGACTGCAGCTCTGGGAAGCCTACTGCCAGGTTCGCTATCTGTGCTCACACCTTCGAGGCAAT
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>CCDC64|92558|protein
MSAFCLGLVGRASAPAEPDSACCMELPAAAGDAVRSPAAAAALIFPGGSGELELALEEELALLAAGERPSDPGEHPQAEPGSLAEGAGPQPPPSQDPELLSVIRQ
KEKDLVLAARLGKALLERNQDMSRQYEQMHKELTDKLEHLEQEKHELRRRFENREGEWEGRVSELESDVKQLQDELERQQIHLREADREKSRAVQELSEQNQRLL
DQLSRASEVERQLSMQVHALREDFREKNSSTNQHIIRLESLQAEIKMLSDRKRELEHRLSATLEENDLLQGTVEELQDRVLILERQGHDKDLQLHQSQLELQEVR
LSCRQLQVKVEELTEERSLQSSAATSTSLLSEIEQSMEAEELEQEREQLRLQLWEAYCQVRYLCSHLRGNDSADSAVSTDSSMDESSETSSAKDVPAGSLRTALN
ELKRLIQSIVDGMEPTVTLLSVEMTALKEERDRLRVTSEDKEPKEQLQKAIRDRDEAIAKKNAVELELAKCRMDMMSLNSQLLDAIQQKLNLSQQLEAWQDDMHR
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MSAFCLGLVGRASAPAEPDSACCMELPAAAGDAVRSPAAAAALIFPGGSGELELALEEELALLAAGERPSDPGEHPQAEPGSLAEGAGPQPPPSQDPELLSVIRQ
KEKDLVLAARLGKALLERNQDMSRQYEQMHKELTDKLEHLEQEKHELRRRFENREGEWEGRVSELESDVKQLQDELERQQIHLREADREKSRAVQELSEQNQRLL
DQLSRASEVERQLSMQVHALREDFREKNSSTNQHIIRLESLQAEIKMLSDRKRELEHRLSATLEENDLLQGTVEELQDRVLILERQGHDKDLQLHQSQLELQEVR
LSCRQLQVKVEELTEERSLQSSAATSTSLLSEIEQSMEAEELEQEREQLRLQLWEAYCQVRYLCSHLRGNDSADSAVSTDSSMDESSETSSAKDVPAGSLRTALN
ELKRLIQSIVDGMEPTVTLLSVEMTALKEERDRLRVTSEDKEPKEQLQKAIRDRDEAIAKKNAVELELAKCRMDMMSLNSQLLDAIQQKLNLSQQLEAWQDDMHR
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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 | 2 (2) | 0 (3) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 10 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Wang, 2009_1 | Discovery | Illumina HumanHap550 BeadChip | 780 | 1299 (-) |  | | ASD | - - |
- - | ||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | ||||||||||||
| Wang, 2009_2 | Discovery | Illumina HumanHap550 BeadChip | 1204 (-) | | | ASD | 10.3±6.6 - |
10.9±6.7 | 6491 (-) |
8.8±5.4 - | ||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top