About Enhancer
| Enhancer ID: | E_01_0312 |
| Species: | human |
| Position : | chrX:154538337-154540337   |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Osteosclerosis |
| Pubmed ID: | 30659980 |
| Enhancer experiment: | PCR?Bone marrow aspiration?Histomorphometry |
| Enhancer experiment description: | IKBKG loss-of-function mutation causes incontinentia pigmenti (IP), a rare X-linked disease featuring linear hypopigmentation, alopecia, hypodontia, and immunodeficiency. |
About Target gene
| Target gene : | IKBKG |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | IKBKG loss-of-function mutation causes incontinentia pigmenti (IP), a rare X-linked disease featuring linear hypopigmentation, alopecia, hypodontia, and immunodeficiency. |
About TF
| TF name : | -- |
| TF experiment: | PCR?Bone marrow aspiration?Histomorphometry |
| TF experiment description: | IKBKG loss-of-function mutation causes incontinentia pigmenti (IP), a rare X-linked disease featuring linear hypopigmentation, alopecia, hypodontia, and immunodeficiency. |
About Function
| Enhancer function : | IKBKG loss-of-function mutation causes incontinentia pigmenti (IP), a rare X-linked disease featuring linear hypopigmentation, alopecia, hypodontia, and immunodeficiency. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
IKBKG loss-of-function mutation causes incontinentia pigmenti (IP), a rare X-linked disease featuring linear hypopigmentation, alopecia, hypodontia, and immunodeficiency. |
About SNP
| SNP ID: | -- |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene