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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
STON1-GTF2A1L - STON1-GTF2A1L Readthrough
Alias:
ALF
SALF
GTF2A1L
GTF2A1LF
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
STON1-GTF2A1L mRNAs是相邻STON1和GTF2A1L基因的罕见但自然发生的读穿产物。这些转录本编码由各自元素stonin 1和general transcription factor IIA, 1-like的大部分组成的融合蛋白。可变剪接产生多种转录本变异。这些读穿变异的意义和产生的蛋白质产品的功能尚未确定。[由RefSeq,2010年10月提供]
Related ID:
NCBI:286749
ENSEMBL:ENSG00000068781
HGNC:30651
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
286749
3
11
246595 bp
83.14
212
4
2
6
STON1-GTF2A1L 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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