🧬 基因注释：PUF60
📝 官方信息
官方名称：poly(U) binding splicing factor 60
功能摘要：This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.412 · 证据 2 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- HNRNPA2B1 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
- MBNL1 综合评分: 0.350 · 证据 2 条
- RBM10 综合评分: 0.312 · 证据 2 条
- RBM15 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
- SRSF9 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- PCBP2 综合评分: 0.262 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- Ptbp2 综合评分: 0.262 · 证据 1 条
- TIA1 综合评分: 0.250 · 证据 1 条
- Rnps1 综合评分: 0.244 · 证据 1 条
- PABPC4 综合评分: 0.212 · 证据 2 条
- PRPF4 综合评分: 0.212 · 证据 1 条
🏥 关联疾病
8q24.3 microdeletion syndrome
高关联 (0.809)
intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
中关联 (0.576)
neurodegenerative disease
中关联 (0.532)
genetic disorder
中关联 (0.524)
Intellectual disability
中关联 (0.501)
syndromic intellectual disability
中关联 (0.463)
dengue disease
低关联 (0.370)
neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
低关联 (0.266)
CHARGE syndrome
低关联 (0.260)
Neurodevelopmental abnormality
低关联 (0.259)