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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
FANCE - FA Complementation Group E
Alias:
FAE
FACE
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
范科尼贫血补充分组(FANC)目前包括FANCA、FANCB、FANCC、FANCD1(也称为BRCA2)、FANCD2、FANCE、FANCF、FANCG、FANCI、FANCJ(也称为BRIP1)、FANCL、FANCM和FANCN(也称为PALB2)。之前定义的FANCH组与FANCA相同。范科尼贫血是一种遗传异质性隐性障碍,特点是细胞遗传不稳定、对DNA交叉链接剂的超敏感性、染色体破裂增加和DNA修复缺陷。范科尼贫血补充分组的成员之间没有共享序列相似性;它们通过组装成共同的核蛋白复合物而相关。此基因编码补充分组E的蛋白质。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2178
ENSEMBL:ENSG00000112039
HGNC:3586
UNIPROT:Q9HB96
OMIM:613976
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2178
10
10
14765 bp
58.71
530
3
4
16
FANCE Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
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Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
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Length(aa)
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* This data comes from NCBI.
Gene Expression
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Name
MGI
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Mutations
No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
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