Evidence Details for CCDC22
Basic Information Top
Gene Symbol: | CCDC22 ( CXorf37 ) |
---|---|
Gene Full Name: | coiled-coil domain containing 22 |
Band: | Xp11.23 |
Quick Links | Entrez ID:28952; OMIM: NA; Uniprot ID:CCD22_HUMAN; ENSEMBL ID: ENSG00000101997; HGNC ID: 28909 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CCDC22|28952|nucleotide
ATGGAGGAGGCGGACCGAATCCTCATCCATTCGCTGCGCCAGGCCGGCACGGCAGTTCCTCCAGATGTGCAGACCTTGCGCGCCTTCACCACTGAGCTGGTTGTA
GAGGCTGTGGTCCGCTGCCTGCGTGTGATCAACCCTGCGGTGGGCTCTGGCCTCAGCCCTCTGCTGCCTCTTGCCATGTCTGCCCGGTTCCGCCTGGCCATGAGC
CTGGCTCAGGCCTGCATGGACCTGGGCTATCCCTTGGAGCTTGGCTATCAGAACTTCCTCTACCCCAGTGAGCCTGACCTCCGAGACCTGCTTCTCTTCTTGGCT
GAGCGTCTGCCCACCGATGCCTCTGAGGATGCAGACCAGCCTGCAGGTGACTCAGCTATTCTCCTCCGGGCCATTGGGAGCCAAATTCGGGACCAGCTGGCACTG
CCTTGGGTCCCGCCCCACCTTCGCACTCCCAAGCTGCAGCACCTCCAGGGCTCGGCCCTCCAGAAGCCTTTCCATGCCAGCAGGCTGGTCGTGCCAGAATTGAGT
TCCAGAGGTGAGCCACGGGAGTTCCAGGCGAGTCCCCTGCTGCTTCCAGTCCCTACCCAGGTGCCTCAGCCTGTTGGAAGGGTGGCCTCGCTCCTCGAACACCAT
GCCCTGCAGCTCTGCCAGCAGACGGGCCGGGACCGGCCAGGGGATGAGGACTGGGTCCACCGGACATCCCGCCTCCCACCCCAGGAGGACACACGGGCTCAGCGG
CAGCGGCTGCAGAAGCAACTGACTGAGCATCTGCGCCAAAGCTGGGGCCTGCTTGGGGCCCCCATACAAGCCCGGGACCTGGGAGAACTGCTGCAGGCCTGGGGT
GCTGGGGCCAAGACTGGTGCTCCTAAGGGCTCCCGCTTCACGCACTCAGAGAAGTTCACCTTCCATCTGGAGCCCCAGGCCCAGGCCACTCAGGTGTCAGATGTG
CCAGCCACCTCCCGGCGGCCTGAACAGGTCACGTGGGCAGCTCAGGAACAGGAGCTCGAGTCCCTTCGGGAGCAGCTGGAAGGAGTGAACCGCAGCATTGAGGAG
GTTGAGGCCGACATGAAGACCCTGGGCGTCAGCTTTGTGCAGGCAGAGTCTGAGTGCCGGCACAGCAAGCTCAGTACAGCAGAGCGTGAGCAGGCCCTGCGCCTG
Show »
ATGGAGGAGGCGGACCGAATCCTCATCCATTCGCTGCGCCAGGCCGGCACGGCAGTTCCTCCAGATGTGCAGACCTTGCGCGCCTTCACCACTGAGCTGGTTGTA
GAGGCTGTGGTCCGCTGCCTGCGTGTGATCAACCCTGCGGTGGGCTCTGGCCTCAGCCCTCTGCTGCCTCTTGCCATGTCTGCCCGGTTCCGCCTGGCCATGAGC
CTGGCTCAGGCCTGCATGGACCTGGGCTATCCCTTGGAGCTTGGCTATCAGAACTTCCTCTACCCCAGTGAGCCTGACCTCCGAGACCTGCTTCTCTTCTTGGCT
GAGCGTCTGCCCACCGATGCCTCTGAGGATGCAGACCAGCCTGCAGGTGACTCAGCTATTCTCCTCCGGGCCATTGGGAGCCAAATTCGGGACCAGCTGGCACTG
CCTTGGGTCCCGCCCCACCTTCGCACTCCCAAGCTGCAGCACCTCCAGGGCTCGGCCCTCCAGAAGCCTTTCCATGCCAGCAGGCTGGTCGTGCCAGAATTGAGT
TCCAGAGGTGAGCCACGGGAGTTCCAGGCGAGTCCCCTGCTGCTTCCAGTCCCTACCCAGGTGCCTCAGCCTGTTGGAAGGGTGGCCTCGCTCCTCGAACACCAT
GCCCTGCAGCTCTGCCAGCAGACGGGCCGGGACCGGCCAGGGGATGAGGACTGGGTCCACCGGACATCCCGCCTCCCACCCCAGGAGGACACACGGGCTCAGCGG
CAGCGGCTGCAGAAGCAACTGACTGAGCATCTGCGCCAAAGCTGGGGCCTGCTTGGGGCCCCCATACAAGCCCGGGACCTGGGAGAACTGCTGCAGGCCTGGGGT
GCTGGGGCCAAGACTGGTGCTCCTAAGGGCTCCCGCTTCACGCACTCAGAGAAGTTCACCTTCCATCTGGAGCCCCAGGCCCAGGCCACTCAGGTGTCAGATGTG
CCAGCCACCTCCCGGCGGCCTGAACAGGTCACGTGGGCAGCTCAGGAACAGGAGCTCGAGTCCCTTCGGGAGCAGCTGGAAGGAGTGAACCGCAGCATTGAGGAG
GTTGAGGCCGACATGAAGACCCTGGGCGTCAGCTTTGTGCAGGCAGAGTCTGAGTGCCGGCACAGCAAGCTCAGTACAGCAGAGCGTGAGCAGGCCCTGCGCCTG
Show »
>CCDC22|28952|protein
MEEADRILIHSLRQAGTAVPPDVQTLRAFTTELVVEAVVRCLRVINPAVGSGLSPLLPLAMSARFRLAMSLAQACMDLGYPLELGYQNFLYPSEPDLRDLLLFLA
ERLPTDASEDADQPAGDSAILLRAIGSQIRDQLALPWVPPHLRTPKLQHLQGSALQKPFHASRLVVPELSSRGEPREFQASPLLLPVPTQVPQPVGRVASLLEHH
ALQLCQQTGRDRPGDEDWVHRTSRLPPQEDTRAQRQRLQKQLTEHLRQSWGLLGAPIQARDLGELLQAWGAGAKTGAPKGSRFTHSEKFTFHLEPQAQATQVSDV
PATSRRPEQVTWAAQEQELESLREQLEGVNRSIEEVEADMKTLGVSFVQAESECRHSKLSTAEREQALRLKSRAVELLPDGTANLAKLQLVVENSAQRVIHLAGQ
WEKHRVPLLAEYRHLRKLQDCRELESSRRLAEIQELHQSVRAAAEEARRKEEVYKQLMSELETLPRDVSRLAYTQRILEIVGNIRKQKEEITKILSDTKELQKEI
Show »
MEEADRILIHSLRQAGTAVPPDVQTLRAFTTELVVEAVVRCLRVINPAVGSGLSPLLPLAMSARFRLAMSLAQACMDLGYPLELGYQNFLYPSEPDLRDLLLFLA
ERLPTDASEDADQPAGDSAILLRAIGSQIRDQLALPWVPPHLRTPKLQHLQGSALQKPFHASRLVVPELSSRGEPREFQASPLLLPVPTQVPQPVGRVASLLEHH
ALQLCQQTGRDRPGDEDWVHRTSRLPPQEDTRAQRQRLQKQLTEHLRQSWGLLGAPIQARDLGELLQAWGAGAKTGAPKGSRFTHSEKFTFHLEPQAQATQVSDV
PATSRRPEQVTWAAQEQELESLREQLEGVNRSIEEVEADMKTLGVSFVQAESECRHSKLSTAEREQALRLKSRAVELLPDGTANLAKLQLVVENSAQRVIHLAGQ
WEKHRVPLLAEYRHLRKLQDCRELESSRRLAEIQELHQSVRAAAEEARRKEEVYKQLMSELETLPRDVSRLAYTQRILEIVGNIRKQKEEITKILSDTKELQKEI
Show »
Evidence summary Top
Click 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) | 1 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 1 (1) | 0 (0) | 10 (7) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Marshall, 2008 | - | SNP microarray | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 | ||
Edens, 2011 | Austria | FISH, aCGH | autism | - | - | - | - | 1 | - | 1 | ||
Edens, 2011 | Honduras | aCGH | autism | - | - | - | - | 1 | - | 1 | ||
Edens, 2011 | Austria | FISH, aCGH | autism | - | - | - | - | 1 | - | 1 | ||
Chung, 2011 | - | SNP microarray | ASD | - | - | - | - | 1 | - | 1 | ||
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Edens, 2011 | Honduras | aCGH | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Nava C, 2012 | France | - | ASD | 12 | - | 12 | - | - |
Low Scale Gene Studies Top
Contact 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.