About Enhancer
| Enhancer ID: | E_01_0789 |
| Species: | human |
| Position : | chr3:181708868-181710868   |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Ewing sarcoma |
| Pubmed ID: | 30042132 |
| Enhancer experiment: | RT qPCR, Western blot, chip SEQ, chip qPCR, NRO RT qPCR, NRO SEQ, statistical analysis |
| Enhancer experiment description: | Epigenome silencing of these repeat sites does not affect gene expression in unrelated cells, can prevent the induction of gene expression by EWS-FLI1, and, in the case of a GGAA repeat that controls SOX2 expression from a distance of 470 kb, is sufficient to impair the growth of Ewing sarcoma xenografts. Ewing sarcoma, the second most common pediatric bone cancer, is characterized by specific chromosomal translocations that generate fusions between the EWSR1 gene and members of the ETS family of transcription factors, most commonly FLI1 (Delattre et al. 1992). |
About Target gene
| Target gene : | -- |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | Epigenome silencing of these repeat sites does not affect gene expression in unrelated cells, can prevent the induction of gene expression by EWS-FLI1, and, in the case of a GGAA repeat that controls SOX2 expression from a distance of 470 kb, is sufficient to impair the growth of Ewing sarcoma xenografts. Ewing sarcoma, the second most common pediatric bone cancer, is characterized by specific chromosomal translocations that generate fusions between the EWSR1 gene and members of the ETS family of transcription factors, most commonly FLI1 (Delattre et al. 1992).;Epigenome silencing of these repeat sites does not affect gene expression in unrelated cells, can prevent the induction of gene expression by EWS-FLI1, and, in the case of a GGAA repeat that controls SOX2 expression from a distance of 470 kb, is sufficient to impair the growth of Ewing sarcoma xenografts. Ewing sarcoma, the second most common pediatric bone cancer, is characterized by specific chromosomal translocations that generate fusions between the EWSR1 gene and members of the ETS family of transcription factors, most commonly FLI1 (Delattre et al. 1992). |
About TF
| TF name : | SOX2(ANOP3,MCOPS3)EWSR1(EWS,EWS-FLI1,bK984G1.4) |
| TF experiment: | RT-qPCR,Western blot,ChIP-seq,ChIP-qPCR,NRO-RT-qPCR,NRO-seq,???? |
| TF experiment description: | Epigenome silencing of these repeat sites does not affect gene expression in unrelated cells, can prevent the induction of gene expression by EWS-FLI1, and, in the case of a GGAA repeat that controls SOX2 expression from a distance of 470 kb, is sufficient to impair the growth of Ewing sarcoma xenografts. Ewing sarcoma, the second most common pediatric bone cancer, is characterized by specific chromosomal translocations that generate fusions between the EWSR1 gene and members of the ETS family of transcription factors, most commonly FLI1 (Delattre et al. 1992).;Epigenome silencing of these repeat sites does not affect gene expression in unrelated cells, can prevent the induction of gene expression by EWS-FLI1, and, in the case of a GGAA repeat that controls SOX2 expression from a distance of 470 kb, is sufficient to impair the growth of Ewing sarcoma xenografts. Ewing sarcoma, the second most common pediatric bone cancer, is characterized by specific chromosomal translocations that generate fusions between the EWSR1 gene and members of the ETS family of transcription factors, most commonly FLI1 (Delattre et al. 1992). |
About Function
| Enhancer function : | Epigenome silencing of these repeat sites does not affect gene expression in unrelated cells, can prevent the induction of gene expression by EWS-FLI1, and, in the case of a GGAA repeat that controls SOX2 expression from a distance of 470 kb, is sufficient to impair the growth of Ewing sarcoma xenografts. Ewing sarcoma, the second most common pediatric bone cancer, is characterized by specific chromosomal translocations that generate fusions between the EWSR1 gene and members of the ETS family of transcription factors, most commonly FLI1 (Delattre et al. 1992). |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
Epigenome silencing of these repeat sites does not affect gene expression in unrelated cells, can prevent the induction of gene expression by EWS-FLI1, and, in the case of a GGAA repeat that controls SOX2 expression from a distance of 470 kb, is sufficient to impair the growth of Ewing sarcoma xenografts. Ewing sarcoma, the second most common pediatric bone cancer, is characterized by specific chromosomal translocations that generate fusions between the EWSR1 gene and members of the ETS family of transcription factors, most commonly FLI1 (Delattre et al. 1992). |
About SNP
| SNP ID: | -- |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| SOX2 | Deactivation of the beta-catenin transactivating complex | reactome | 42 |
| SOX2 | POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation | reactome | 13 |
| SOX2 | POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation | reactome | 10 |
| SOX2 | Transcriptional regulation of pluripotent stem cells | reactome | 28 |
| SOX2 | Hs_Endoderm_Differentiation_WP2853_88152 | wikipathways | 62 |
| SOX2 | Hs_Dopaminergic_Neurogenesis_WP2855_87239 | wikipathways | 19 |
| SOX2 | Hs_Wnt_Signaling_Pathway_and_Pluripotency_WP399_90291 | wikipathways | 12 |
| SOX2 | Hs_Mesodermal_Commitment_Pathway_WP2857_87780 | wikipathways | 47 |
| SOX2 | Hs_Ectoderm_Differentiation_WP2858_89329 | wikipathways | 56 |
| EWSR1 | BARD1 signaling events | pid | 29 |
| EWSR1 | TGF_beta_Receptor | netpath | 220 |
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene