AutismKB 2.0

Evidence Details for CCDC22


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Basic Information Top
Gene Symbol:CCDC22 ( CXorf37 )
Gene Full Name: coiled-coil domain containing 22
Band: Xp11.23
Quick LinksEntrez 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
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>CCDC22|28952|protein
MEEADRILIHSLRQAGTAVPPDVQTLRAFTTELVVEAVVRCLRVINPAVGSGLSPLLPLAMSARFRLAMSLAQACMDLGYPLELGYQNFLYPSEPDLRDLLLFLA
ERLPTDASEDADQPAGDSAILLRAIGSQIRDQLALPWVPPHLRTPKLQHLQGSALQKPFHASRLVVPELSSRGEPREFQASPLLLPVPTQVPQPVGRVASLLEHH
ALQLCQQTGRDRPGDEDWVHRTSRLPPQEDTRAQRQRLQKQLTEHLRQSWGLLGAPIQARDLGELLQAWGAGAKTGAPKGSRFTHSEKFTFHLEPQAQATQVSDV
PATSRRPEQVTWAAQEQELESLREQLEGVNRSIEEVEADMKTLGVSFVQAESECRHSKLSTAEREQALRLKSRAVELLPDGTANLAKLQLVVENSAQRVIHLAGQ
WEKHRVPLLAEYRHLRKLQDCRELESSRRLAEIQELHQSVRAAAEEARRKEEVYKQLMSELETLPRDVSRLAYTQRILEIVGNIRKQKEEITKILSDTKELQKEI
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Evidence summary Top

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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 microarrayASD 427 238 189 - 427 500 927
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Chung, 2011 - SNP microarrayASD - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top