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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
RBMXL1 - RBMX Like 1
Alias:
RBM1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因代表一个RNA结合基序蛋白的逆转录基因,X连锁(RBMX),位于染色体X上。与RBMX基因座相比,编码序列中的所有内含子已经被处理掉,但ORF是完整的,并且有证据表明在这个位置上有转录。所有携带这个基因的旧世界猴中,通过纯化选择保留了ORF,这表明这个基因座可能是功能的,可能是在男性减数分裂时X染色体基因被沉默的时候,或者在精子发生的前期阶段。这个基因与染色体1上的半胱氨酸结合-β裂解酶2基因座的5'外显子结构相同,但编码序列不重叠。可变剪接导致两个转录变异体。[由RefSeq,2009年6月提供]
Related ID:
NCBI:494115
ENSEMBL:ENSG00000213516
HGNC:25073
UNIPROT:Q96E39
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
494115
2
3
13174 bp
42.14
20
--
2
10
RBMXL1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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Status
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References Literature
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