🔬 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	SRSF1, THRAP3, KHDRBS1, HNRNPK, PCBP1, DDX17, PABPC1, SRSF10, ELAVL1, ADAR, CPSF6, HSPA8, RBM15, QKI, NUMA1, HNRNPC, HNRNPA1, PSIP1, ZMYM3, AGO2
primary ovarian insufficiency	3/4	0.024919	3.85x	FMR1, KHDRBS1, AGO2
gastroesophageal junction adenocarcinoma	13/39	0.025362	1.71x	NUMA1, SRSF2, FUBP1, DDX5, SPEN, THRAP3, PSIP1, ZMYM3, QKI, SRSF3, RBM15, PABPC1, CPEB3
Global developmental delay	8/20	0.025880	2.05x	DDX5, ELAVL2, SNRNP70, ZMYM3, RBM8A, DDX6, DDX3X, PABPC1
Rectal Tubulovillous Adenoma	4/7	0.029787	2.93x	DDX6, SPEN, NUMA1, FUBP1
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	DDX6, PSIP1
Testicular Germ Cell Tumor	2/2	0.037783	5.13x	G3BP2, ZNF638
nasopharyngeal squamous cell carcinoma	10/29	0.038592	1.77x	NUMA1, DDX5, SPEN, PSIP1, QKI, SRSF3, DDX6, DDX3X, PABPC1, CPEB3
skin squamous cell carcinoma	16/54	0.041672	1.52x	NUMA1, SRSF2, FUBP1, DDX5, SPEN, THRAP3, PCBP1, PSIP1, ZMYM3, QKI, SRSF3, RBM15, DDX6, DDX3X, PABPC1, CPEB3
breast carcinoma	18/63	0.044448	1.47x	NUMA1, SRSF2, FUBP1, DDX5, SPEN, CSTF2T, ADAR, THRAP3, ZC3H11A, PSIP1, ZMYM3, QKI, SRSF3, RBM15, DDX6, DDX3X, PABPC1, CPEB3

💡 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