🧬 基因注释：EFEMP1
📝 官方信息
官方名称：EGF-like fibulin extracellular matrix protein 1
功能摘要：This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009].
🎯 作为靶基因的剪接因子
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPU 综合评分: 0.362 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- Tardbp 综合评分: 0.324 · 证据 1 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- CSTF2 综合评分: 0.274 · 证据 2 条
- UPF1 综合评分: 0.274 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- ACIN1 综合评分: 0.212 · 证据 2 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- Rbm7 综合评分: 0.162 · 证据 1 条
- Rnps1 综合评分: 0.162 · 证据 1 条
- U2af2 综合评分: 0.162 · 证据 1 条
- MSI1 综合评分: 0.150 · 证据 1 条
- Srsf2 综合评分: 0.150 · 证据 1 条
- TFIP11 综合评分: 0.150 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录