🧬 基因注释：FMR1
📝 官方信息
官方名称：fragile X messenger ribonucleoprotein 1
功能摘要：The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010].
🎯 作为靶基因的剪接因子
- ELAVL3 综合评分: 0.368 · 证据 1 条
- HNRNPD 综合评分: 0.362 · 证据 2 条
- HNRNPK 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
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- HNRNPC 综合评分: 0.350 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- HNRNPM 综合评分: 0.350 · 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
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- SRSF2 综合评分: 0.300 · 证据 1 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- Srsf2 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- PRPF8 综合评分: 0.298 · 证据 1 条
🏥 关联疾病
fragile X syndrome
高关联 (0.808)
fragile X-associated tremor/ataxia syndrome
高关联 (0.700)
premature ovarian failure 1
中关联 (0.653)
Intellectual disability
中关联 (0.506)
primary ovarian insufficiency
中关联 (0.481)
genetic disorder
中关联 (0.468)
type 2 diabetes mellitus
低关联 (0.334)
Autistic behavior
低关联 (0.266)
adolescent idiopathic scoliosis
低关联 (0.179)
femur fracture
低关联 (0.173)