About Enhancer
| Enhancer ID: | E_01_0808 |
| Species: | human |
| Position : | chr7:50301609-50303609   |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Acute lymphoblastic leukemia (all) |
| Pubmed ID: | 29977016 |
| Enhancer experiment: | Chip SEQ, QRT PCR, RNA SEQ, flow cytometry |
| Enhancer experiment description: | Correspondingly, crucial B-cell development transcription factors IKZF1, PAX5, and EBF1 are also the targets of frequent somatic mutation [11, 12], highlighting that GWAS signals and somatic mutations may impact upon the same genes. The rs2239630-A risk allele is associated with increased promotor activity and CEBPE expression. |
About Target gene
| Target gene : | -- |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | Correspondingly, crucial B-cell development transcription factors IKZF1, PAX5, and EBF1 are also the targets of frequent somatic mutation [11, 12], highlighting that GWAS signals and somatic mutations may impact upon the same genes. The rs2239630-A risk allele is associated with increased promotor activity and CEBPE expression.;Correspondingly, crucial B-cell development transcription factors IKZF1, PAX5, and EBF1 are also the targets of frequent somatic mutation [11, 12], highlighting that GWAS signals and somatic mutations may impact upon the same genes. The rs2239630-A risk allele is associated with increased promotor activity and CEBPE expression.;Correspondingly, crucial B-cell development transcription factors IKZF1, PAX5, and EBF1 are also the targets of frequent somatic mutation [11, 12], highlighting that GWAS signals and somatic mutations may impact upon the same genes. The rs2239630-A risk allele is associated with increased promotor activity and CEBPE expression. |
About TF
| TF name : | IKZF1PAX5(ALL3,BSAP)CEBPE |
| TF experiment: | ChIP-seq,qRT-PCR,RNA-Seq,????? |
| TF experiment description: | Correspondingly, crucial B-cell development transcription factors IKZF1, PAX5, and EBF1 are also the targets of frequent somatic mutation [11, 12], highlighting that GWAS signals and somatic mutations may impact upon the same genes. The rs2239630-A risk allele is associated with increased promotor activity and CEBPE expression.;Correspondingly, crucial B-cell development transcription factors IKZF1, PAX5, and EBF1 are also the targets of frequent somatic mutation [11, 12], highlighting that GWAS signals and somatic mutations may impact upon the same genes. The rs2239630-A risk allele is associated with increased promotor activity and CEBPE expression.;Correspondingly, crucial B-cell development transcription factors IKZF1, PAX5, and EBF1 are also the targets of frequent somatic mutation [11, 12], highlighting that GWAS signals and somatic mutations may impact upon the same genes. The rs2239630-A risk allele is associated with increased promotor activity and CEBPE expression. |
About Function
| Enhancer function : | Correspondingly, crucial B-cell development transcription factors IKZF1, PAX5, and EBF1 are also the targets of frequent somatic mutation [11, 12], highlighting that GWAS signals and somatic mutations may impact upon the same genes. The rs2239630-A risk allele is associated with increased promotor activity and CEBPE expression. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
Correspondingly, crucial B-cell development transcription factors IKZF1, PAX5, and EBF1 are also the targets of frequent somatic mutation [11, 12], highlighting that GWAS signals and somatic mutations may impact upon the same genes. The rs2239630-A risk allele is associated with increased promotor activity and CEBPE expression. |
About SNP
| SNP ID: | rs2239630 |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| IKZF1 | Calcineurin-regulated NFAT-dependent transcription in lymphocytes | pid | 50 |
| PAX5 | C-MYB transcription factor network | pid | 87 |
| PAX5 | ID | netpath | 38 |
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene