🧬 基因注释：GET1
📝 官方信息
官方名称：guided entry of tail-anchored proteins factor 1
功能摘要：This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017].
🎯 作为靶基因的剪接因子
- HNRNPM 综合评分: 0.448 · 证据 2 条
- HNRNPK 综合评分: 0.424 · 证据 2 条
- HNRNPC 综合评分: 0.412 · 证据 2 条
- RBFOX2 综合评分: 0.398 · 证据 2 条
- MBNL2 综合评分: 0.396 · 证据 1 条
- KHSRP 综合评分: 0.362 · 证据 2 条
- HNRNPA2B1 综合评分: 0.350 · 证据 2 条
- FUS 综合评分: 0.300 · 证据 1 条
- PTBP1 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
- ELAVL3 综合评分: 0.296 · 证据 1 条
- PRPF8 综合评分: 0.262 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- CELF2 综合评分: 0.212 · 证据 2 条
- CPSF6 综合评分: 0.212 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录