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. 2024 Jun 11;11:36. doi: 10.1186/s40779-024-00539-2

Fig. 2.

Fig. 2

eRNAQTL-eRNAs play significant roles in tumorigenesis and clinical utility. a Expression profile of eRNAQTL-eRNAs in human cancers. Blue, red, and green bars denote cancer type-specific, intermediately specific, and ubiquitous eRNAs, respectively. Pie charts reflect the percentage of eRNAQTL-eRNAs in each category. b Enrichment analysis of the number of eRNAQTL-eRNAs in 50 hallmark gene sets by GSEA based on the rank score of each eRNA and gene. c Scatter pie plot of the proportion of eRNAQTL-eRNAs enriched in 17 immune-related pathways based on GSEA. d The number of eRNAQTL-eRNAs associated with immune cell infiltration estimated by TIMER in each cancer type (top Y-axis). The bottom Y-axis shows the proportion of these immune-related eRNAQTL-eRNAs. e Mutation landscape for target genes of eRNAQTL-eRNAs among 2243 TCGA samples. The top panel shows individual tumor mutation rates while the middle panel details cancer types for each patient. The bottom panel shows genes with relatively high mutation frequency in multiple cancer types. Mutation types are indicated in the legend at the bottom. f Proportion of eRNAQTL-eRNAs associated with drug response from GDSC dataset among different cancer signaling pathways. g Number of prognostic eRNAQTL-eRNAs in different cancer types. eRNAQTL eRNA quantitative trait locus, GSEA gene set enrichment analysis, TIMER Tumor Immune Estimation Resource, GDSC Genomics of Drug Sensitivity in Cancer, ACC adrenocortical carcinoma, BLCA bladder urothelial carcinoma, BRCA breast invasive carcinoma, CESC cervical squamous cell carcinoma and endocervical adenocarcinoma, CHOL cholangiocarcinoma, CRC colon and rectum adenocarcinoma, DLBC lymphoid neoplasm diffuses large B-cell lymphoma, GBM glioblastoma multiforme, HNSC head and neck squamous cell carcinoma, KICH kidney chromophobe, KIRC kidney renal clear cell carcinoma, KIRP kidney renal papillary cell carcinoma, LGG lower grade glioma, LIHC liver hepatocellular carcinoma, LUAD lung adenocarcinoma, LUSC lung squamous cell carcinoma, MESO mesothelioma, OV ovarian serous cystadenocarcinoma, PAAD pancreatic adenocarcinoma, PCPG pheochromocytoma and paraganglioma, PRAD prostate adenocarcinoma, SARC sarcoma, SKCM skin cutaneous melanoma, STAD stomach adenocarcinoma, TGCT testicular germ cell tumors, THCA thyroid carcinoma, THYM thymoma, UCEC uterine corpus endometrial carcinoma, UCS uterine carcinosarcoma, UVM uveal melanoma, WNT wingless-related integration site, RTK receptor tyrosine kinase, PI3K/mTOR phosphoinositide 3-kinase/mammalian target of rapamycin pathway, JNK and p38 Jun N-terminal kinase and p38 mitogen-activated protein kinase, IGF1R insulin-like growth factor 1 receptor, MAPK/ERK mitogen-activated protein kinase/extracellular signal-regulated kinase, EGFR epidermal growth factor receptor, ABL abelson