Enhancer ID: | E_02_0402 |
Species: | human |
Position : | chr22:29600833-29602833 |
Biosample name: | |
Experiment class : | High+Lowthroughput |
Enhancer type: | Enhancer |
Disease: | Gouty arthritis |
Pubmed ID: | 30333752 |
Enhancer experiment: | Fluorescence assay,RT-qPCR, |
Enhancer experiment description: | Schwannomas are common, highly morbid, and medically untreatable tumors that can arise in patients with germline as well as somatic mutations in NF2. These mutations most commonly result in the loss of function of the NF2 encoded protein, Merlin. |
Target gene : | NF2 |
Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
Less strong evidence: | RNA-Seq |
Target gene experiment description: | Schwannomas are common, highly morbid, and medically untreatable tumors that can arise in patients with germline as well as somatic mutations in NF2. These mutations most commonly result in the loss of function of the NF2 encoded protein, Merlin. |
TF name : | -- |
TF experiment: | Fluorescence assay,RT-qPCR, |
TF experiment description: | Schwannomas are common, highly morbid, and medically untreatable tumors that can arise in patients with germline as well as somatic mutations in NF2. These mutations most commonly result in the loss of function of the NF2 encoded protein, Merlin. |
Enhancer function : | Schwannomas are common, highly morbid, and medically untreatable tumors that can arise in patients with germline as well as somatic mutations in NF2. These mutations most commonly result in the loss of function of the NF2 encoded protein, Merlin. |
Enhancer function experiment: | Immunohistochemical staining |
Enhancer function experiment description: |
Schwannomas are common, highly morbid, and medically untreatable tumors that can arise in patients with germline as well as somatic mutations in NF2. These mutations most commonly result in the loss of function of the NF2 encoded protein, Merlin. |
SNP ID: | -- |
GeneName | Pathway Name | Source | Gene Number |
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