🧬 基因注释：PQBP1
📝 官方信息
官方名称：polyglutamine binding protein 1
功能摘要：This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.412 · 证据 2 条
- SRSF2 综合评分: 0.398 · 证据 1 条
- HNRNPA2B1 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: 0.312 · 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
- HNRNPK 综合评分: 0.300 · 证据 2 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: 0.262 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- PCBP2 综合评分: 0.200 · 证据 1 条
- SF3A3 综合评分: 0.200 · 证据 1 条
- Rnps1 综合评分: 0.198 · 证据 1 条
- YBX1 综合评分: 0.198 · 证据 1 条
- CPSF6 综合评分: 0.150 · 证据 2 条
- CPSF7 综合评分: 0.150 · 证据 2 条
🏥 关联疾病
Renpenning syndrome
高关联 (0.788)
neurodegenerative disease
中关联 (0.531)
genetic disorder
中关联 (0.466)
Intellectual disability
中关联 (0.448)
microcephaly
中关联 (0.419)
hamel cerebro-palato-cardiac syndrome
低关联 (0.370)
X-linked intellectual disability, Porteous type
低关联 (0.370)
X-linked intellectual disability, Golabi-Ito-hall type
低关联 (0.370)
dengue disease
低关联 (0.370)
X-linked intellectual disability, Sutherland-Haan type
低关联 (0.370)