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中文人类
CHD8 - Chromodomain Helicase DNA Binding Protein 8
Alias:
IDDAM
AUTS18
HELSNF1
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这个基因编码一个色蛋白家族的成员，该家族以SNF2样结构域和两个染色质组织修饰结构域为特征。编码的蛋白质还含有常见的brahma和kismet结构域，这些结构域是色蛋白家族成员所共有的。这个基因已经证明在包括转录调控、表观遗传重塑、促进细胞增殖和RNA合成调控等多个过程中发挥作用。这个基因的等位基因变异与自闭症谱系障碍有关。可变剪接导致多个转录变异体。[RefSeq,2016年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CHD8 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
