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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
AKAP8L - A-kinase Anchoring Protein 8 Like
Alias:
HA95
HAP95
NAKAP
NAKAP95
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
具有组蛋白去乙酰化酶结合活性和核纤层蛋白结合活性。参与几个过程,包括有丝分裂染色体浓缩;组蛋白修饰的调节;以及mRNA从核仁的调控。位于染色质;细胞质;和核仁。是核糖核蛋白复合物的一部分。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:26993
ENSEMBL:ENSG00000011243
HGNC:29857
UNIPROT:Q9ULX6
OMIM:609475
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
26993
2
14
38939 bp
71.64
30
--
3
26
AKAP8L 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
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
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
PMID
Journal
Year
IF
No Data Found!
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