🧬 基因注释：DKC1
📝 官方信息
官方名称：dyskerin pseudouridine synthase 1
功能摘要：This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014].
🎯 作为靶基因的剪接因子
- RBFOX2 综合评分: 0.362 · 证据 2 条
- Srsf3 综合评分: 0.362 · 证据 1 条
- CELF2 综合评分: 0.356 · 证据 2 条
- HNRNPA1 综合评分: 0.350 · 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
- MBNL1 综合评分: 0.350 · 证据 2 条
- QKI 综合评分: 0.350 · 证据 1 条
- PRPF8 综合评分: 0.324 · 证据 1 条
- EWSR1 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
- HNRNPK 综合评分: 0.300 · 证据 2 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
- PTBP1 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
dyskeratosis congenita, X-linked
高关联 (0.846)
dyskeratosis congenita
高关联 (0.751)
Hoyeraal-Hreidarsson syndrome
高关联 (0.717)
neurodegenerative disease
中关联 (0.520)
DKC1-related disorder
中关联 (0.486)
minimally differentiated acute myeloblastic leukemia
中关联 (0.462)
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1
中关联 (0.462)
isolated cerebellar hypoplasia/agenesis
低关联 (0.259)
pulmonary fibrosis
低关联 (0.144)
immunodeficiency disease
低关联 (0.119)