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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
ALK - ALK Receptor Tyrosine Kinase
Alias:
ALK1
CD246
NBLST3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种属于胰岛素受体超家族的酪氨酸激酶受体。这个蛋白质包括一个细胞外结构域,一个与单跨膜区域相对应的疏水区,以及一个细胞内激酶结构域。它在大脑发育中起着重要作用,并对神经系统中的特定神经元产生作用。这个基因在一系列肿瘤中已经发现被重排、突变或扩增,包括间变性大细胞淋巴瘤、神经母细胞瘤和非小细胞肺癌。染色体重排是这个基因中最常见的遗传改变,导致在肿瘤发生中产生多个融合基因,包括ALK(染色体2)/EML4(染色体2)、ALK/RANBP2(染色体2)、ALK/ATIC(染色体2)、ALK/TFG(染色体3)、ALK/NPM1(染色体5)、ALK/SQSTM1(染色体5)、ALK/KIF5B(染色体10)、ALK/CLTC(染色体17)、ALK/TPM4(染色体19)和ALK/MSN(染色体X)。[由RefSeq,2011年1月提供]
Related ID:
NCBI:238
ENSEMBL:ENSG00000171094
HGNC:427
UNIPROT:Q9UM73
OMIM:105590
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
238
2
29
728813 bp
176.44
4251
8
15
39
ALK Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
Score
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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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Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
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References Literature
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