| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
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0.500 | Biomarker | BEFREE | A subgroup of supratentorial ependymomas are characterized by C11orf95-RELA fusions, presumed to be secondary to chromothripsis of chromosome 11, resulting in constitutive activation of the NF-κB signaling pathway and overexpression of cyclin D1, p65, and L1 cell adhesion molecule (L1CAM). | 31375768 | 2020 |
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0.500 | Biomarker | BEFREE | Here, we have used interphase fluorescent in situ hybridization (FISH) for C11orf95 and RELA, immunohistochemistry (IHC) for p65-RelA and the recently developed DNA methylation-based classification besides conventional histopathology, and compared the precision of the methods in 40 supratentorial pediatric brain tumors diagnosed as ependymomas in the past years. | 30325077 | 2019 |
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0.500 | Biomarker | BEFREE | Recent advances in the molecular classification of EPN revealed a supratentorial (ST) ependymoma subgroup characterized by C11orf95-RELA fusion. | 30631904 | 2019 |
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0.500 | Biomarker | BEFREE | Although most CEs in our group were immunopositive for L1CAM and showed C11orf95-RELA fusion, which have been associated with a poor prognosis in supratentorial ependymomas, all our patients had good outcomes. | 31150846 | 2019 |
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0.500 | Biomarker | BEFREE | Significance of molecular classification of ependymomas: C11orf95-RELA fusion-negative supratentorial ependymomas are a heterogeneous group of tumors. | 30514397 | 2018 |
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0.500 | GeneticVariation | BEFREE | The majority of supratentorial ependymomas (ST-ependymomas) have few mutations but frequently display chromothripsis of chromosome 11q that generates a fusion between C11orf95 and RELA (RELA<sup>FUS</sup>). | 29949764 | 2018 |
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0.500 | Biomarker | BEFREE | Clinicopathological features of ST-EPNs in correlation with C11orf95-RELA and YAP1 fusions have been assessed in only few studies. | 29354850 | 2018 |
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0.500 | Biomarker | BEFREE | A novel recurrent oncogenic fusion involving the C11orf95 and RELA genes was recently described in supratentorial ependymomas. | 27121356 | 2016 |
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0.500 | GeneticVariation | BEFREE | They are supratentorial ependymomas with C11orf95-RELA fusion or YAP1 fusion, infratentorial ependymomas with or without a hypermethylated phenotype (CIMP), and spinal cord ependymomas. | 27022130 | 2016 |
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0.500 | GeneticVariation | BEFREE | We here describe a case of a sarcoma developing in a patient previously treated with chemotherapy and radiation whose original ependymoma and recurrent sarcoma were both shown to carry the type 1 C11orf95-RELA fusion transcript indicating a monoclonal origin for both tumors. | 25388523 | 2015 |
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0.500 | Biomarker | BEFREE | Although no recurrently mutated genes were found throughout these groups of ependymomas, PFA exhibited a CpG island methylator phenotype, PFB was associated with extensive chromosomal aberrations, and the C11orf95-RELA fusion gene was frequently observed in supratentorial ependymomas. | 25182241 | 2014 |
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0.500 | Biomarker | BEFREE | C11orf95-RELA fusion proteins translocated spontaneously to the nucleus to activate NF-κB target genes, and rapidly transformed neural stem cells--the cell of origin of ependymoma--to form these tumours in mice. | 24553141 | 2014 |
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0.500 | FusionGene | ORPHANET | Our data identify a highly recurrent genetic alteration of RELA in human cancer, and the C11orf95-RELA fusion protein as a potential therapeutic target in supratentorial ependymoma. | 24553141 | 2014 |
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0.500 | Biomarker | HPO | |||||||||||
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0.300 | FusionGene | ORPHANET | Epidemiology, molecular classification and WHO grading of ependymoma. | 28895660 | 2018 |
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO | |||||||||||
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0.100 | Biomarker | HPO |