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Fig. 4 | Cancer Communications

Fig. 4

From: The genomics of desmoplastic small round cell tumor reveals the deregulation of genes related to DNA damage response, epithelial–mesenchymal transition, and immune response

Fig. 4

Pathways and genes mutated in DSRCT. a Network representing the six biological pathways containing protein-encoding mutated genes from our list significantly enriched according to Ingenuity Pathway Analysis (IPA®, Qiagen; Bioinformatics, Redwood City, CA, USA; http://www.qiagen.com/ingenuity). b Heatmap reporting the 26 mutated genes across the six cases by the three DNA damage response (DDR) network subsets: core, RNA-binding proteins (RBPs), and RNA machinery (either directly or indirectly related). c Heatmap representing the distribution of the 10 mutated genes belonging to the MErT/EMT process across the six cases. The cases are classified into three groups (see coloured vertical bars on the left). Genes with a deleterious mutation are highlighted in bold. Genes belonging to both DDR network and MErT/EMT are marked by an asterisk. Genes are coloured according to the type of mutation. MErT, mesenchymal–epithelial reverse transition; hybrid, hybrid/partial epithelial–mesenchymal transition; EMT, epithelial–mesenchymal transition. Gene names: ADAD1, adenosine deaminase domain containing 1; RRM2, ribonucleotide reductase regulatory subunit M2; USP9X, ubiquitin specific peptidase 9 X-linked; WWC1, WW and C2 domain containing 1, WWC1; ATR, ATR serine/threonine kinase; CW22, CWC22 spliceosome associated protein homolog; ARID1A, AT-rich interaction domain 1A; U2AF1, U2 small nuclear RNA auxiliary factor; NUP214, xx; ZNF254, zinc finger 254; ZNF219, zinc finger 219; TP53, Tumor protein p53; DBR1, debranching RNA lariats 1; PIF1, PIF1 5′-to-3′ DNA helicase; ZNF600, zinc finger 600; ZNF708, zinc finger 708; RBM45, xx; ZNF568, zinc finger 568; ZNF676, zinc finger 676; BCLAF1, BCL2 associated transcription factor 1; EIF4G1, eukaryotic translation initiation factor 4 gamma 1; HTATSF1, HIV-1 Tat specific factor 1; ZNF208, zinc finger 208; PCF11, xx; ZNF225, zinc finger 225; DSG2, xx; TAGLN, transgelin; TBL1XR1, transducing beta like 1 X-linked receptor 1; CARF, calcium responsive transcription factor; ACTL8, actin like 8; TYRO3, TYRO3 protein tyrosine kinase; GRM7, glutamate metabotropic receptor 7; NUS1, NUS1, dehydrodolichyl diphosphate synthase subunit

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