🧬 基因注释:NOVA2
📝 官方信息
官方名称:NOVA alternative splicing regulator 2
功能摘要:Enables sequence-specific mRNA binding activity. Involved in neuron differentiation and regulation of alternative mRNA splicing, via spliceosome. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
🎯 作为靶基因的剪接因子
- Nova2 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
- Ptbp2 综合评分: 0.262 · 证据 1 条
- RBM10 综合评分: 0.250 · 证据 2 条
- ELAVL3 综合评分: 0.224 · 证据 1 条
- GRSF1 综合评分: 0.212 · 证据 2 条
- Tardbp 综合评分: 0.212 · 证据 1 条
- MBNL2 综合评分: 0.200 · 证据 1 条
- NOVA1 综合评分: 0.200 · 证据 2 条
- U2af1 综合评分: 0.150 · 证据 1 条
- Rbpms 综合评分: 0.100 · 证据 1 条
- UPF1 综合评分: 0.100 · 证据 1 条
🏥 关联疾病
neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
中关联 (0.696)
complex neurodevelopmental disorder
中关联 (0.462)
Neurodevelopmental disorder
低关联 (0.371)
Severe intellectual disability
低关联 (0.340)
Intellectual disability
低关联 (0.333)
genetic disorder
低关联 (0.190)