🔬 剪接因子 MBNL2 靶基因疾病富集分析

疾病名称	Overlap	P-value	富集倍数	相关靶基因
hepatocellular carcinoma	31/113	0.015423	1.41x	PSIP1, CPEB3, SRSF3, AGO2, RBM15, TARDBP, DDX5, KHDRBS1, PABPC1, ZC3H13, FUBP1, CPSF6, QKI, SPEN, HNRNPC, HNRNPD, DDX6, HSPA8, NUMA1, ELAVL1
primary ovarian insufficiency	3/4	0.024919	3.85x	KHDRBS1, AGO2, FMR1
gastroesophageal junction adenocarcinoma	13/39	0.025362	1.71x	PSIP1, CPEB3, PABPC1, FUBP1, SRSF3, NUMA1, RBM15, QKI, SPEN, ZMYM3, SRSF2, THRAP3, DDX5
Global developmental delay	8/20	0.025880	2.05x	PABPC1, DDX6, DDX3X, ELAVL2, SNRNP70, ZMYM3, RBM8A, DDX5
Rectal Tubulovillous Adenoma	4/7	0.029787	2.93x	FUBP1, DDX6, NUMA1, SPEN
isolated cerebellar hypoplasia/agenesis	2/2	0.037783	5.13x	DDX3X, DKC1
lower respiratory tract disease	2/2	0.037783	5.13x	DDX6, ELAVL2
pancreatic insulinoma	2/2	0.037783	5.13x	PSIP1, DDX6
Testicular Germ Cell Tumor	2/2	0.037783	5.13x	G3BP2, ZNF638
nasopharyngeal squamous cell carcinoma	10/29	0.038592	1.77x	PSIP1, CPEB3, PABPC1, DDX3X, DDX6, SRSF3, NUMA1, QKI, SPEN, DDX5
skin squamous cell carcinoma	16/54	0.041672	1.52x	THRAP3, CPEB3, PSIP1, PABPC1, FUBP1, DDX6, DDX3X, SRSF3, NUMA1, RBM15, QKI, SPEN, ZMYM3, SRSF2, PCBP1, DDX5
breast carcinoma	18/63	0.044448	1.47x	PSIP1, ZC3H11A, CPEB3, CSTF2T, PABPC1, FUBP1, DDX6, DDX3X, SRSF3, NUMA1, RBM15, QKI, ADAR, SPEN, ZMYM3, SRSF2, THRAP3, DDX5

💡 说明：
• Overlap: 靶基因中与该疾病相关的基因数 / 数据库中该疾病总关联基因数
• P-value: 超几何检验显著性，越小代表富集越显著
• 富集倍数: 实际关联数 / 期望关联数，>1 表示富集