AutismKB 2.0

Evidence Details for CCL22


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Basic Information Top
Gene Symbol:CCL22 ( ABCD-1,DC/B-CK,MDC,MGC34554,SCYA22,STCP-1 )
Gene Full Name: chemokine (C-C motif) ligand 22
Band: 16q21
Quick LinksEntrez ID:6367; OMIM: 602957; Uniprot ID:CCL22_HUMAN; ENSEMBL ID: ENSG00000102962; HGNC ID: 10621
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CCL22|6367|nucleotide
ATGGATCGCCTACAGACTGCACTCCTGGTTGTCCTCGTCCTCCTTGCTGTGGCGCTTCAAGCAACTGAGGCAGGCCCCTACGGCGCCAACATGGAAGACAGCGTC
TGCTGCCGTGATTACGTCCGTTACCGTCTGCCCCTGCGCGTGGTGAAACACTTCTACTGGACCTCAGACTCCTGCCCGAGGCCTGGCGTGGTGTTGCTAACCTTC
AGGGATAAGGAGATCTGTGCCGATCCCAGAGTGCCCTGGGTGAAGATGATTCTCAATAAGCTGAGCCAATGA








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>CCL22|6367|protein
MDRLQTALLVVLVLLAVALQATEAGPYGANMEDSVCCRDYVRYRLPLRVVKHFYWTSDSCPRPGVVLLTFRDKEICADPRVPWVKMILNKLSQ




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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 (1) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 4 (3)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Nishimura, 2007_1 America lymphoblastoid cell lines 8
(-)
autism with FMR1-FMautism 15
(-)
1.41 Up 0.000015
  • Platform: Whole Human Genome Array G4112A (Agilent)
  • ProbeSet: -
  • RefSeq_ID/ EST: NM_002990
  • GEO_ID: GSE7329
  • Statistic Method: ANOVA by MeV3.1, PCA by GeneSpring GX7.3(Aligent), SAM and RankProd by Bioconductor packages
Nishimura, 2007_2 America lymphoblastoid cell lines 7
(-)
autism with dup(15q)autism 15
(-)
1.42 Up 0.000015
  • Platform: Whole Human Genome Array G4112A (Agilent)
  • ProbeSet: -
  • RefSeq_ID/ EST: NM_002990
  • GEO_ID: GSE7329
  • Statistic Method: ANOVA by MeV3.1, PCA by GeneSpring GX7.3(Aligent), SAM and RankProd by Bioconductor packages
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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