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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
TBL3 - Transducin Beta Like 3
Alias:
SAZD
UTP13
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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与包含WD40重复的蛋白质家族成员具有序列相似性。WD40家族是一个大型蛋白质家族,似乎具有调节功能。据信,WD40重复介导蛋白质之间相互作用,该家族的成员参与信号传导、RNA处理、基因调控、囊泡运输、细胞骨架组装,并可能参与细胞型分化的控制。这个基因具有多个多腺苷酸化位点。它可能有多个可变剪接转录本,但这些变体尚未完全描述。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10607
ENSEMBL:ENSG00000183751
HGNC:11587
UNIPROT:Q12788
OMIM:605915
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10607
1
22
10877 bp
89.03
89
--
2
8
TBL3 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
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
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Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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