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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
SOX6 - SRY-box Transcription Factor 6
Alias:
SOXD
HSSOX6
TOLCAS
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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Y性别决定区域D亚家族的成员,该家族的特征是具有保守的称为高移动性组盒的DNA结合域以及它们结合DNA次沟的能力。编码的蛋白质是中枢神经系统正常发育、软骨生成和维持心脏和骨骼肌细胞所需的转录激活因子。编码的蛋白质与其他家族成员相互作用,以协同激活基因表达。可变剪接导致多个转录变异体。[RefSeq,2009年3月提供]
Related ID:
NCBI:55553
ENSEMBL:ENSG00000110693
HGNC:16421
UNIPROT:P35712
OMIM:607257
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55553
6
16
772029 bp
91.92
122
1
10
10
SOX6 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)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Abundance
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Cell-specific RNA expression
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Abundance
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Interactions
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Acting
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Type
Name
MGI
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Mutations
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Name
CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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