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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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SETD1A - SET Domain Containing 1A, Histone Lysine Methyltransferase
Alias:
Set1
EPEDD
KMT2F
Set1A
NEDSID
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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是组蛋白甲基转移酶(HMT)复合体的组成部分,该复合体在赖氨酸4位产生单、双和三甲基组蛋白H3。组蛋白H3在赖氨酸4位的三甲基化是一种已知的染色质修饰,通常标记活跃基因的转录起始位点。该蛋白质包含SET结构域、一个RNA识别基序结构域,并属于V类样SAM结合甲基转移酶超家族的成员。[由RefSeq提供,2016年12月]
Related ID:
NCBI:9739
ENSEMBL:ENSG00000099381
HGNC:29010
UNIPROT:O15047
OMIM:611052
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9739
8
19
26911 bp
186.03
315
5
13
25
SETD1A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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Status
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Link
No data available
References Literature
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No Data Found!
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