🧬 基因注释：HNRNPU
📝 官方信息
官方名称：heterogeneous nuclear ribonucleoprotein U
功能摘要：This gene encodes a member of a family of proteins that bind nucleic acids and function in the formation of ribonucleoprotein complexes in the nucleus with heterogeneous nuclear RNA (hnRNA). The encoded protein has affinity for both RNA and DNA, and binds scaffold-attached region (SAR) DNA. Mutations in this gene have been associated with epileptic encephalopathy, early infantile, 54. A pseudogene of this gene has been identified on chromosome 14. [provided by RefSeq, Jun 2017].
🎯 作为靶基因的剪接因子
- HNRNPL 综合评分: 0.529 · 证据 2 条
- HNRNPC 综合评分: 0.524 · 证据 2 条
- HNRNPA1 综合评分: 0.448 · 证据 2 条
- Srsf3 综合评分: 0.444 · 证据 1 条
- FUS 综合评分: 0.424 · 证据 1 条
- fus 综合评分: 0.424 · 证据 1 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPH1 综合评分: 0.412 · 证据 2 条
- PTBP1 综合评分: 0.398 · 证据 2 条
- HNRNPU 综合评分: 0.362 · 证据 2 条
- HNRNPF 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- QKI 综合评分: 0.350 · 证据 1 条
- RBM22 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- Tardbp 综合评分: 0.310 · 证据 1 条
- HNRNPD 综合评分: 0.300 · 证据 2 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
🏥 关联疾病
developmental and epileptic encephalopathy, 54
高关联 (0.787)
Epileptic encephalopathy
中关联 (0.641)
Intellectual disability
中关联 (0.581)
genetic developmental and epileptic encephalopathy
中关联 (0.572)
neurodegenerative disease
中关联 (0.526)
genetic disorder
中关联 (0.521)
Seizure
中关联 (0.492)
complex neurodevelopmental disorder
低关联 (0.399)
dengue disease
低关联 (0.370)
Neurodevelopmental delay
低关联 (0.345)