🧬 基因注释：AMPH
📝 官方信息
官方名称：amphiphysin
功能摘要：This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010].
🎯 作为靶基因的剪接因子
- MBNL2 综合评分: 0.436 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- ELAVL3 综合评分: 0.296 · 证据 1 条
- Mbnl2 综合评分: 0.262 · 证据 1 条
- NOVA1 综合评分: 0.262 · 证据 2 条
- FUBP1 综合评分: 0.250 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- Tardbp 综合评分: 0.212 · 证据 1 条
- Nova2 综合评分: 0.200 · 证据 1 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- NXF1 综合评分: 0.162 · 证据 1 条
- CPSF4 综合评分: 0.150 · 证据 2 条
- CSTF2 综合评分: 0.150 · 证据 2 条
- Srsf3 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
- Larp7 综合评分: 0.100 · 证据 1 条
- RBM20 综合评分: 0.100 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录