基因注释：WDR83
官方信息
官方名称：WD repeat domain 83
功能摘要：This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009].
作为靶基因的剪接因子
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- GRSF1 综合评分: 0.150 · 证据 2 条
- Srsf1 综合评分: 0.150 · 证据 1 条
- Srsf2 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- EIF4A3 综合评分: 0.100 · 证据 2 条
- Rbm7 综合评分: 0.100 · 证据 1 条
- Rbmx 综合评分: 0.100 · 证据 1 条
- Rnps1 综合评分: 0.100 · 证据 1 条
- U2af2 综合评分: 0.100 · 证据 1 条
- UPF1 综合评分: 0.100 · 证据 1 条
关联疾病
hypercholanemia, familial
中关联 (0.498)
neurodevelopmental disorder with variable familial hypercholanemia
中关联 (0.453)
neurodegenerative disease
低关联 (0.303)
neurodevelopmental disorder with seizures and speech and walking impairment
低关联 (0.118)
alpha-mannosidosis
低关联 (0.118)
attention deficit hyperactivity disorder
低关联 (0.111)