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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
TBR1 - T-box Brain Transcription Factor 1
Alias:
AUTS5
IDDAS
TBR-1
TES-56
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是一个保守家族的成员,该家族的基因共享一个共同的DNA结合域,即T-box。T-box基因编码参与多种发育过程调节的转录因子。在小鼠中,这个基因的同源基因在大脑皮层、海马、杏仁核和嗅球中表达,被认为在神经元迁移和轴突投射中发挥重要作用。在小鼠中,这个蛋白质的C端区域被发现是与钙/钙调蛋白依赖性丝氨酸蛋白激酶的鸟苷酸激酶域结合所必需和充分的。[由RefSeq提供,2015年12月]
Related ID:
NCBI:10716
ENSEMBL:ENSG00000136535
HGNC:11590
UNIPROT:Q16650
OMIM:604616
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10716
1
6
9574 bp
74.05
197
4
13
13
TBR1 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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