D283MED
Tissue: brain / central nervous system
Disease: NS / medulloblastoma / primitive neuroectodermal tumour-medulloblastoma / primitive neuroectodermal tumour
FEATURES
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342 mutations
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152 compounds
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162 activities
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Copy number data: 24
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Expression data: 0
Mutations
COSMIC - Cell Lines Project
Gene nameGeneTranscriptAA syntaxCDS syntaxMutation typePubmed ID
NEFHENSG00000100285ENST00000310624p.E658_E659delEEc.1970_1975delAGGAAGDeletion - In frame
ANKRD18AENSG00000180071ENST00000399703p.Q21Pc.62A>CSubstitution - Missense
MCF2LENSG00000126217ENST00000375601p.L844Lc.2532C>GSubstitution - coding silent
MUC20ENSG00000176945ENST00000447234p.D653Dc.1959C>TSubstitution - coding silent
EFR3BENSG00000084710ENST00000264719p.S558Sc.1674G>CSubstitution - coding silent
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