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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
LIG1 - DNA Ligase 1
Alias:
LIGI
IMD96
hLig1
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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ATP依赖的DNA连接酶蛋白家族的成员。编码的蛋白质在DNA复制、重组和碱基切除修复过程中发挥作用。这个基因中的突变导致DNA连接酶I缺乏,导致免疫缺陷和对DNA损伤剂的敏感性增加。这个基因的破坏可能与多种癌症有关。可变剪接导致多个转录变异体。[由RefSeq,2014年1月提供]
Related ID:
NCBI:3978
ENSEMBL:ENSG00000105486
HGNC:6598
UNIPROT:P18858
OMIM:126391
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3978
7
28
54900 bp
101.74
558
1
5
22
LIG1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
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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