🧬 基因注释：CELF1
📝 官方信息
官方名称：CUGBP Elav-like family member 1
功能摘要：Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPH1 综合评分: 0.494 · 证据 2 条
- HNRNPA2B1 综合评分: 0.474 · 证据 2 条
- Tardbp 综合评分: 0.468 · 证据 1 条
- HNRNPM 综合评分: 0.448 · 证据 2 条
- HNRNPU 综合评分: 0.424 · 证据 2 条
- HNRNPA1 综合评分: 0.412 · 证据 2 条
- KHSRP 综合评分: 0.362 · 证据 2 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- ELAVL3 综合评分: 0.353 · 证据 1 条
- HNRNPC 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
- CELF2 综合评分: 0.346 · 证据 2 条
- FUBP1 综合评分: 0.312 · 证据 2 条
- FUS 综合评分: 0.300 · 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
- HNRNPL 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
🏥 关联疾病
Abnormality of the skeletal system
低关联 (0.330)
neurodegenerative disease
低关联 (0.320)
skin aging
低关联 (0.227)
venous thromboembolism
低关联 (0.162)
hypertrophic cardiomyopathy
低关联 (0.144)
type 2 diabetes mellitus
低关联 (0.124)
hypertension
低关联 (0.113)
myotonic dystrophy type 1
低关联 (0.103)