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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
BCR - BCR Activator Of RhoGEF And GTPase
Alias:
ALL
CML
PHL
BCR1
D22S11
D22S662
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
染色体22和9之间的相互易位产生了费城染色体,通常可在慢性髓细胞白血病患者中发现。该易位的染色体22断裂点位于BCR基因内。该易位产生一个由BCR和ABL基因(染色体9断裂点处的基因)序列编码的融合蛋白。尽管BCR-ABL融合蛋白已得到广泛研究,但正常BCR基因产物的功能尚不清楚。BCR-ABL1的酪氨酸激酶活性不受调控,有助于白血病细胞的永生。BCR蛋白具有丝氨酸/苏氨酸激酶活性,并作为p21rac和其他激酶的GTP酶激活蛋白。已发现该基因编码两种不同的异构体。[RefSeq,2020年1月提供]
Related ID:
NCBI:613
ENSEMBL:ENSG00000186716
HGNC:1014
UNIPROT:P11274
OMIM:151410
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
613
2
23
137529 bp
142.82
113
6
4
34
BCR Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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CDS(bp)
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* This data comes from NCBI.
Gene Expression
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Type
Name
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CAS Number
Status
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Link
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References Literature
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