🧬 基因注释：CHAMP1
📝 官方信息
官方名称：chromosome alignment maintaining phosphoprotein 1
功能摘要：This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with an autosomal dominant form of intellectual disability. [provided by RefSeq, Jul 2017].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.474 · 证据 2 条
- KHSRP 综合评分: 0.362 · 证据 2 条
- Srsf3 综合评分: 0.362 · 证据 1 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- PCBP2 综合评分: 0.344 · 证据 1 条
- PRPF8 综合评分: 0.324 · 证据 1 条
- FUBP1 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
- PTBP1 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
- SRSF9 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- U2af2 综合评分: 0.274 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
🏥 关联疾病
intellectual disability, autosomal dominant 40
高关联 (0.731)
neurodegenerative disease
中关联 (0.540)
Intellectual disability
中关联 (0.520)
blepharophimosis, ptosis, and epicanthus inversus syndrome
中关联 (0.519)
genetic disorder
中关联 (0.517)
Neurodevelopmental disorder
中关联 (0.437)
complex neurodevelopmental disorder
低关联 (0.400)
retinopathy
低关联 (0.336)
hypertension
低关联 (0.258)
obesity
低关联 (0.120)