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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
JAZF1 - JAZF Zinc Finger 1
Alias:
TIP27
ZNF802
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有三个C2H2型锌指的核蛋白,并作为转录抑制因子发挥作用。涉及这个基因的染色体异常与子宫内膜间质肿瘤有关。已经描述了编码不同蛋白质异构体的替代剪接变体;然而,并非所有变体都得到了充分的研究 [RefSeq, 2008年7月提供]
Related ID:
NCBI:221895
ENSEMBL:ENSG00000153814
HGNC:28917
UNIPROT:Q86VZ6
OMIM:606246
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
221895
5
5
350219 bp
27.08
7
2
7
9
JAZF1 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
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Residues
Reference
Score
No data available
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
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Journal
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IF
No Data Found!
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