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 Austria FISH, aCGHautism - - - - 1 - 1
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
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.

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018