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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
SIM1 - SIM BHLH Transcription Factor 1
Alias:
bHLHe14
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
SIM1和SIM2基因是果蝇Single-minded(sim)基因的同源物。仅在测试的各种成年和胎儿组织中,在胎儿肾脏中检测到了SIM1转录本。由于sim基因在果蝇发育中起着重要作用,并且在神经发生期间表达峰值,因此提出人类SIM基因是参与唐氏综合症的某些畸形特征(尤其是面部和颅骨特征),脑发育异常和/或认知障碍的候选基因。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6492
ENSEMBL:ENSG00000112246
HGNC:10882
UNIPROT:P81133
OMIM:603128
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6492
2
12
79913 bp
85.52
196
3
9
3
SIM1 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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