About Enhancer
| Enhancer ID: | E_01_0651 |
| Species: | human |
| Position : | chr7:19018038-19020038   |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Saethri - chotzen syndrome |
| Pubmed ID: | 30372441 |
| Enhancer experiment: | ChIP-seq?ChIP-qPCR?4c-seq?Whole-mount in situ hybridization |
| Enhancer experiment description: | Accordingly, haploinsufficiency of TWIST1 can cause limb and craniofacial malformations as part of Saethre-Chotzen syndrome. |
About Target gene
| Target gene : | -- |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | Accordingly, haploinsufficiency of TWIST1 can cause limb and craniofacial malformations as part of Saethre-Chotzen syndrome. |
About TF
| TF name : | TWIST1 |
| TF experiment: | ChIP-seq?ChIP-qPCR?4c-seq?Whole-mount in situ hybridization |
| TF experiment description: | Accordingly, haploinsufficiency of TWIST1 can cause limb and craniofacial malformations as part of Saethre-Chotzen syndrome. |
About Function
| Enhancer function : | Accordingly, haploinsufficiency of TWIST1 can cause limb and craniofacial malformations as part of Saethre-Chotzen syndrome. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
Accordingly, haploinsufficiency of TWIST1 can cause limb and craniofacial malformations as part of Saethre-Chotzen syndrome. |
About SNP
| SNP ID: | -- |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| TWIST1 | HIF-2-alpha transcription factor network | pid | 34 |
| TWIST1 | Notch-mediated HES/HEY network | pid | 48 |
| TWIST1 | Hs_Endochondral_Ossification_WP474_87977 | wikipathways | 43 |
| TWIST1 | Hs_miR-509-3p_alteration_of_YAP1-ECM_axis_WP3967_91491 | wikipathways | 14 |
| TWIST1 | Hs_G13_Signaling_Pathway_WP524_72112 | wikipathways | 18 |
| TWIST1 | Hs_Transcription_factor_regulation_in_adipogenesis_WP3599_88581 | wikipathways | 9 |
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene