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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
CHD7 - Chromodomain Helicase DNA Binding Protein 7
Alias:
CRG
HH5
IS3
KAL5
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有几个螺旋酶家族结构域的蛋白质。在这个基因中发现的突变在一些患有CHARGE综合征的患者中被发现。已经发现这个基因有两个编码不同异构体的转录变异体。[由RefSeq,2015年10月提供]
Related ID:
NCBI:55636
ENSEMBL:ENSG00000171316
HGNC:20626
UNIPROT:Q9P2D1
OMIM:608892
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55636
11
38
189289 bp
335.93
2892
13
28
34
CHD7 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
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Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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