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
Show »
ATGTCCGCTTTCTGCCTGGGCTTGGTCGGCCGCGCTTCAGCACCCGCCGAGCCGGACAGCGCCTGCTGCATGGAGCTGCCCGCCGCGGCCGGGGACGCAGTCCGG
AGTCCCGCCGCCGCCGCCGCCCTCATCTTCCCCGGGGGCTCCGGGGAGCTAGAACTGGCGTTAGAGGAGGAGCTGGCGCTGCTGGCGGCCGGGGAGCGGCCGTCC
GACCCCGGGGAACACCCTCAGGCCGAGCCTGGGTCTCTGGCCGAGGGGGCCGGACCGCAGCCGCCGCCCTCCCAGGACCCCGAGCTGCTGTCGGTGATCCGACAG
AAGGAGAAGGATCTGGTGTTGGCGGCCCGGCTGGGTAAGGCGCTGCTCGAGAGGAACCAGGACATGAGCCGGCAGTACGAGCAGATGCATAAGGAGCTGACAGAC
AAGCTCGAGCACTTAGAGCAAGAGAAACATGAATTGAGAAGACGATTTGAGAACCGAGAAGGGGAGTGGGAAGGCCGAGTGTCAGAGCTGGAGAGTGATGTGAAG
CAGCTACAGGATGAGTTGGAGAGGCAGCAGATTCATCTGCGGGAAGCAGATCGAGAAAAATCACGGGCTGTCCAGGAACTGTCGGAACAGAACCAAAGGCTATTG
GATCAGCTCAGCAGGGCATCAGAAGTTGAGAGACAACTCTCCATGCAGGTCCACGCCCTCAGAGAAGACTTTCGGGAGAAAAACTCATCAACCAACCAGCACATT
ATCCGGCTGGAGAGCCTTCAGGCCGAGATCAAGATGCTGTCAGATCGGAAACGGGAGCTGGAGCATCGTCTCAGCGCTACTTTAGAGGAAAATGACCTGCTCCAA
GGGACCGTGGAGGAGCTACAGGACCGGGTGCTAATCCTGGAGAGGCAGGGCCATGACAAGGACCTACAGCTGCACCAAAGCCAGCTGGAGCTTCAGGAGGTGCGT
CTCTCCTGCCGACAGCTGCAGGTGAAGGTGGAAGAACTCACTGAGGAGAGGAGTCTGCAGAGCTCTGCCGCCACCAGCACATCCCTCCTGTCAGAGATCGAGCAG
AGCATGGAGGCTGAGGAGCTGGAGCAGGAGCGAGAGCAGCTGAGACTGCAGCTCTGGGAAGCCTACTGCCAGGTTCGCTATCTGTGCTCACACCTTCGAGGCAAT
Show »
>CCDC64|92558|protein
MSAFCLGLVGRASAPAEPDSACCMELPAAAGDAVRSPAAAAALIFPGGSGELELALEEELALLAAGERPSDPGEHPQAEPGSLAEGAGPQPPPSQDPELLSVIRQ
KEKDLVLAARLGKALLERNQDMSRQYEQMHKELTDKLEHLEQEKHELRRRFENREGEWEGRVSELESDVKQLQDELERQQIHLREADREKSRAVQELSEQNQRLL
DQLSRASEVERQLSMQVHALREDFREKNSSTNQHIIRLESLQAEIKMLSDRKRELEHRLSATLEENDLLQGTVEELQDRVLILERQGHDKDLQLHQSQLELQEVR
LSCRQLQVKVEELTEERSLQSSAATSTSLLSEIEQSMEAEELEQEREQLRLQLWEAYCQVRYLCSHLRGNDSADSAVSTDSSMDESSETSSAKDVPAGSLRTALN
ELKRLIQSIVDGMEPTVTLLSVEMTALKEERDRLRVTSEDKEPKEQLQKAIRDRDEAIAKKNAVELELAKCRMDMMSLNSQLLDAIQQKLNLSQQLEAWQDDMHR
Show »
MSAFCLGLVGRASAPAEPDSACCMELPAAAGDAVRSPAAAAALIFPGGSGELELALEEELALLAAGERPSDPGEHPQAEPGSLAEGAGPQPPPSQDPELLSVIRQ
KEKDLVLAARLGKALLERNQDMSRQYEQMHKELTDKLEHLEQEKHELRRRFENREGEWEGRVSELESDVKQLQDELERQQIHLREADREKSRAVQELSEQNQRLL
DQLSRASEVERQLSMQVHALREDFREKNSSTNQHIIRLESLQAEIKMLSDRKRELEHRLSATLEENDLLQGTVEELQDRVLILERQGHDKDLQLHQSQLELQEVR
LSCRQLQVKVEELTEERSLQSSAATSTSLLSEIEQSMEAEELEQEREQLRLQLWEAYCQVRYLCSHLRGNDSADSAVSTDSSMDESSETSSAKDVPAGSLRTALN
ELKRLIQSIVDGMEPTVTLLSVEMTALKEERDRLRVTSEDKEPKEQLQKAIRDRDEAIAKKNAVELELAKCRMDMMSLNSQLLDAIQQKLNLSQQLEAWQDDMHR
Show »
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| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.