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Table 3 Top ten mutated genes within pediatric glioma samples from data amongst several web resources (PedcBioPortal, cBioPortal, ICGC Data Portal, Pecan)

From: Use case driven evaluation of open databases for pediatric cancer research

Overall mutation frequency

Gene

Encoded protein

Function

25%

BRAF

B-Raf proto-oncogene

RAS/MAPK signaling for proliferation, differentiation, migration and apoptosis

21%

TP53

tumor protein 53

tumor suppressor, “guardian of the genome”

18%

KIAA1549

UPF0606 protein KIAA1549

transcription regulation

16%

H3F3A

H3 histone family member 3A

DNA accessibility

13%

ATRX

alpha thalassemia/mental retardation syndrome X-linked protein

chromatin remodeler

13%

IDH1

isocitrate dehydrogenase 1

energy metabolism

5%

CDR2

Cerebellar Degeneration Related Protein 2

Myc-regulation

4%

PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

phosphorylation, signaling for proliferation and migration

4%

NF1

neurofibromin 1

tumor suppressor

3%

C17ORF47

Chromosome 17 Open Reading Frame 47

uncharacterized protein