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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
PAX7 - Paired Box 7
Alias:
HUP1
RMS2
PAX7B
CMYP19
MYOSCO
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是配对框(PAX)家族转录因子的成员。这个基因家族的成员通常包含一个配对框域、一个八肽和一个配对型同源域。这些基因在胎儿发育和癌症生长中起着关键作用。配对框7基因的具体功能尚不清楚,但推测可能涉及肿瘤抑制,因为该基因与叉头域家族成员的融合已被发现与肺泡横纹肌瘤有关。已发现此基因的三种转录变体编码不同的等位基因。[由RefSeq提供,2008年9月]
Related ID:
NCBI:5081
ENSEMBL:ENSG00000009709
HGNC:8621
UNIPROT:P23759
OMIM:167410
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5081
3
9
118021 bp
55.12
46
2
22
9
PAX7 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
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Interactions
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Acting
Regulation
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Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Year
IF
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