AutismKB

Evidence Detail for C4B


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Basic Information Top
Gene Symbol:C4B ( C4B1,C4B12,C4B2,C4B3,C4B5,C4F,CH,CO4,CPAMD3,FLJ60561,MGC164979 )
Gene Full Name: complement component 4B (Chido blood group)
Band: 6p21.3
Quick LinksEntrez ID:721; OMIM: 120820; Uniprot ID:CO4B_HUMAN; ENSEMBL ID: ENSG00000224389
Sequences Top
>C4B|721|nucleotide
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>C4B|721|protein
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Evidence Statistic 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 Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 2 (2) 1 (2) 0 (0) 3 (2) 3 (3) 34 (9)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 2
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Odell, 2005_1 USA 1 (detail) 85
(10.59%)
ASD 10.7
(3.3-31.5)
- 69
(21.74%)
12.6
(3.6-22.9)
Sweeten, 2008_1 USA 1 (detail) 80
(10.00%)
ASD -
-
- 60
(25.00%)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Warren, 1994_1 Human plasma--AD protein expression
  • Subjects: 42(34 male, 8 female)
  • Normal Controls: 105 (56 females [53%] and 49 males [47%])
  • Methods: Radioimmunoassays for beta-endorphin using C-terminally and N-terminally directed antisera
  • Evidence Details: Plasma concentration (median, 14.7 g/L of the C4B protein) in autistic patients was significantly (P = .01) decreased compared with that of normal subjects (median, 22.4 g/L)
Warren, 1995_1 human plasma--AD protein expression
  • Subjects: 26
  • Normal Controls: -
  • Methods: -
  • Evidence Details: the DR+ T cells were not found to be associated with age of the autistic patients but were inversely correlated with a decreased plasma level of the C4B protein
Warren, 1996_1 human plasma--- protein expression
  • Subjects: -
  • Normal Controls: -
  • Methods: -
  • Evidence Details: We confirmed the finding of an increased frequency of the C4B null allele in autism
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Kuwano, 2011_2 Japan Mother with ASD children 21
(100.00%)
---- 21
(100.00%)
2.21 Up 0.0246
  • Platform: Agilent
  • ProbeSet: -
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE26415
  • Statistic Method: unpaired t test with Benjamini-Hochberg corrrection for multiple comparisons at the 0.05 FDR
Proteomics Studies:1
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
Corbett, 2007_1 USA blood liquid chromatography-electrospray ionization-mass spectrometry (LC-ESI-MS) 69
(15.94%)
ASD 35
(17.14%)
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000488 6 6p21.32-21.33 Gain 2 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000489 6 6p21.32-21.33 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000490 6 6p21.32-21.33 Gain 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000491 6 6p21.32 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000699 6 6p21 Gain - - CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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