🧬 基因注释：CCBE1
📝 官方信息
官方名称：collagen and calcium binding EGF domains 1
功能摘要：This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010].
🎯 作为靶基因的剪接因子
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- fus 综合评分: 0.300 · 证据 1 条
- Mbnl2 综合评分: 0.200 · 证据 1 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- CPSF4 综合评分: 0.150 · 证据 2 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- RBM20 综合评分: 0.100 · 证据 2 条
- YBX1 综合评分: 0.100 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录