🧬 基因注释：SMNDC1
📝 官方信息
官方名称：survival motor neuron domain containing 1
功能摘要：This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- Tardbp 综合评分: 0.460 · 证据 1 条
- FUBP1 综合评分: 0.374 · 证据 2 条
- FUS 综合评分: 0.362 · 证据 1 条
- KHSRP 综合评分: 0.362 · 证据 2 条
- fus 综合评分: 0.362 · 证据 1 条
- HNRNPA2B1 综合评分: 0.350 · 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
- EWSR1 综合评分: 0.348 · 证据 2 条
- ELAVL3 综合评分: 0.336 · 证据 1 条
- RBM10 综合评分: 0.312 · 证据 2 条
- RBM39 综合评分: 0.312 · 证据 2 条
- TIA1 综合评分: 0.312 · 证据 1 条
- HNRNPD 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- RBFOX2 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- Srsf3 综合评分: 0.300 · 证据 1 条
- CSTF2 综合评分: 0.274 · 证据 2 条
- PCBP2 综合评分: 0.262 · 证据 1 条
🏥 关联疾病
dengue disease
低关联 (0.370)
premature birth
低关联 (0.325)
Abnormality of the skeletal system
低关联 (0.307)
Splenomegaly
低关联 (0.302)
pneumoconiosis
低关联 (0.243)
placenta praevia
低关联 (0.192)
neurodegenerative disease
低关联 (0.135)