About Enhancer
| Enhancer ID: | E_01_186 | |
| Enhancer symbol: | -- | |
| Species: | Human | |
| Position : | chr10:43568986-43571244   |
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| Biosample name: | Neural Crest Cells | |
| Experiment class : | Low throughput |
| Enhancer type: | Enhancer | |
| Disease: | Hirschsprung Disease | |
| DO: | DOID:10487 | |
| Mesh: | D006627 | |
| Distance from TSS: | >2KB | |
| Pubmed ID: | 25267720 |
| Enhancer experiment: | RT-PCR,Luciferase Reporter Assay | |
| Enhancer experiment description: | To determine the probable function of SRY on the transactivation of RET by NKX2-1 and PAX3, we had exam_x0002_ined its effects in a reporter system with a luciferase gene directed by a 3.7 kb promoter (23531 to +196) of the human RET gene(27), harboring both distal and proximal enhancers. |
About Target gene
| Target gene : | RET(CDHF12,CDHR16,HSCR1,MEN2A,MEN2B,MTC1,PTC-ELE1) | |
| Strong evidence: | -- | |
| Less strong evidence: | Luciferase Reporter Assay | |
| Target gene experiment description: | However, when either SOX10 or PAX3 was co-transfected with NKX2-1, significant exacerbations of the RET1.5-luciferase activities were observed (Fig. 2D), suggesting potential interactions and collaborations between these transcription factors and NKX2-1 on regulation of RET gene. |
About TF
| TF name : | PAX3(CDHS,HUP2,WS1,WS3)NKX2-1(BCH,BHC,NK-2,NKX2.1,NKX2A,NMTC1,T/EBP,TEBP,TITF1,TTF-1,TTF1) | |
| TF experiment: | Luciferase Reporter Assay,GST Pull-down Assay | |
| TF experiment description: | SOX10 and SRY competitive interactions with NKX2-1and PAX3 demonstrated by GST pull-down assays,Transfection with either the pM-NKX2-1 or pM-PAX3 expression vectors with the UAS-luciferase reporter showed that the GAL4-BD was indeed capable bringing these two transcription factors to the UAS site, thereby transactivating the UAS-luciferase reporter in the transfected Neuro-2A cells. |
About Function
| Enhancer function : | -- |
| Enhancer function experiment: | -- |
| Enhancer function experiment description: |
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About SNP
| SNP ID: | -- | |
| SNP position: | -- |
| SNP experiment: | -- |
Enhancer associated network
The number on yellow line represents the distance between enhancer and target gene
