🧬 基因注释：DIAPH1
📝 官方信息
官方名称：diaphanous related formin 1
功能摘要：This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- HNRNPC 综合评分: 0.448 · 证据 2 条
- RBFOX2 综合评分: 0.444 · 证据 2 条
- FUS 综合评分: 0.424 · 证据 1 条
- fus 综合评分: 0.424 · 证据 1 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPM 综合评分: 0.412 · 证据 2 条
- HNRNPK 综合评分: 0.398 · 证据 2 条
- PTBP1 综合评分: 0.362 · 证据 2 条
- SRSF2 综合评分: 0.362 · 证据 1 条
- Srsf3 综合评分: 0.362 · 证据 1 条
- Tardbp 综合评分: 0.356 · 证据 1 条
- HNRNPA1 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
- QKI 综合评分: 0.350 · 证据 1 条
- U2af1 综合评分: 0.346 · 证据 1 条
- PRPF8 综合评分: 0.324 · 证据 1 条
- UPF1 综合评分: 0.314 · 证据 1 条
- HNRNPD 综合评分: 0.300 · 证据 2 条
- HNRNPL 综合评分: 0.300 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录