AutismKB 2.0

Variant Details 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: 6p21.33
Quick LinksEntrez ID:721; OMIM: 120820; Uniprot ID:CO4B_HUMAN; ENSEMBL ID: ENSG00000224389; HGNC ID: 1324
Relate to Another Database: SFARIGene; denovo-db
Variant 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. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 5 0 0 0 3 0 8
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000489 6 6p21.32-21.33 31477607 32199000 721393 gain external link Gregory, 2009
AutCNV0000488 6 6p21.32-21.33 31405443 32199000 793557 gain external link Gregory, 2009
AutCNV0000491 6 6p21.32 31815721 32199000 383279 loss external link Gregory, 2009
AutCNV0000490 6 6p21.32-21.33 31477607 32122919 645312 gain external link Gregory, 2009
AutCNV0000699 6 6p21 29792021 45092022 15300001 gain external link Berkel, 2010
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
No related data!
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
No related data!
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
Warren, 1995
Warren, 1994
Warren, 1996
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related data!




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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