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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
CSHL1 - Chorionic Somatomammotropin Hormone Like 1
Alias:
CSL
CS-5
GHB4
CSHP1
hCS-L
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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生长激素/催乳素家族激素的一员,这些激素在生长控制中起着重要作用。这个基因与其他四个相关基因一起位于染色体17的生长激素位点,它们以相同的转录方向穿插排列;这种排列被认为是通过一系列基因复制演化而来的。尽管这五个基因在序列上具有非常高的相似性,但它们在不同组织中有选择地表达。这个特定的家族成员在胎盘绒毛中表达,尽管最初被认为是一个假基因。实际上,选择性剪接表明大多数转录本将无法表达分泌蛋白。已经识别了编码不同异构体的可变剪接转录本变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1444
ENSEMBL:ENSG00000204414
HGNC:2442
UNIPROT:Q14406
OMIM:603515
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1444
9
5
1651 bp
25.39
17
--
9
5
CSHL1 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
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Interactions
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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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