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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
CHL1 - Cell Adhesion Molecule L1 Like
Alias:
CALL
L1CAM2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是神经细胞粘附分子L1基因家族的成员。它是一种可能参与信号传导途径的神经识别分子。这个基因的一个拷贝的缺失可能是3p-综合征患者精神缺陷的原因。这个蛋白质也可能在某些癌症的生长中发挥作用。交替剪接导致编码和非编码变异。[RefSeq,2011年11月提供]
Related ID:
NCBI:10752
ENSEMBL:ENSG00000134121
HGNC:1939
UNIPROT:O00533
OMIM:607416
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10752
18
28
212655 bp
135.07
119
--
5
5
CHL1 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
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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