Pathways affected in adenoid cystic carcinoma (WP3651)

Homo sapiens

Protein pathways altered by mutations in adenoid cystic carcinoma. Pathways include epigentic modification, DNA damage checkpoint signals, MYB/MYC signalling pathway, FGF/IGF/PI3K signalling, and notch signalling. In the epigenetic modification pathway, several complexes promote the activity of HIST1H1E/HIST1H2AL which regulate chromatin remodeling. In the DNA damage pathway DNA damage in the nucleus signals to ATM and PRKDC to induce DNA repair and suspend the cell cycle. ATM further activates proteins that induce either apoptosis or DNA repair and leads to the activation of proteins that inhibit progression in the cell cycle. The MYB/MYC pathway involves the activation of protein complexes involved in inducing cell growth and proliferation by CREBBP and MYCBP. However this pathway has feedback inhibition by the binding of the MYBL1/MYB complex to NFIB which depresses MYB activity. The FGF/IGF/PI3K signalling pathway involves the activation of the FGFR4/INSRR complex by FGF16 and ERBB2 activation by ERBB2IP which leads to a signalling cascade that inhibits apoptosis and promotes cell growth and migration. The notch pathway is activated by the biding of CNTN6 to Notch leading to pathway activation. This pathway is regulated by RoxP2, CTBP1, and DTX4/FBXW7. These pathways are from figure 4 from Ho et al. Proteins on this pathway have targeted assays available via the [ CPTAC Assay Portal]


AAR&Co , Kristina Hanspers , Eric Weitz , and Egon Willighagen


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Homo sapiens




Disease Ontology

breast adenoid cystic carcinoma

Pathway Ontology

DNA damage response pathway S phase pathway chromatin remodeling pathway


Label Type Compact URI Comment
SMARCA2 GeneProduct ensembl:ENSG00000080503
SMARCE1 GeneProduct ensembl:ENSG00000073584
ATRX GeneProduct ensembl:ENSG00000085224
ARID1A GeneProduct ensembl:ENSG00000117713
SRCAP GeneProduct ensembl:ENSG00000080603
CREBBP GeneProduct ensembl:ENSG00000005339
MORF4L1 GeneProduct ensembl:ENSG00000185787
KAT6A GeneProduct ensembl:ENSG00000083168
BRD1 GeneProduct ensembl:ENSG00000100425
EP300 GeneProduct ensembl:ENSG00000100393
KANSL1 GeneProduct ensembl:ENSG00000120071
SETD2 GeneProduct ensembl:ENSG00000181555
NSD1 GeneProduct ensembl:ENSG00000165671
KMT2C GeneProduct ensembl:ENSG00000055609
CMTR2 GeneProduct ensembl:ENSG00000180917
ARID4B GeneProduct ensembl:ENSG00000054267
BCOR GeneProduct ensembl:ENSG00000183337
BCORL1 GeneProduct ensembl:ENSG00000085185
KDM6B GeneProduct ensembl:ENSG00000132510
KDM6A GeneProduct ensembl:ENSG00000147050
ARID5B GeneProduct ensembl:ENSG00000150347
JMJD1C GeneProduct ensembl:ENSG00000171988
HIST1H1E GeneProduct ensembl:ENSG00000168298
HIST1H2AL GeneProduct ensembl:ENSG00000276903
PRKDC GeneProduct ensembl:ENSG00000253729
ATM GeneProduct ensembl:ENSG00000149311
CREBBP GeneProduct ensembl:ENSG00000005339
SMC1A GeneProduct ensembl:ENSG00000072501
BRCA1 GeneProduct ensembl:ENSG00000012048
TP53 GeneProduct ensembl:ENSG00000141510
UHRF1 GeneProduct ensembl:ENSG00000276043
TLK1 GeneProduct ensembl:ENSG00000198586
CDC2 GeneProduct ncbiprotein:78070384
MYBL1 GeneProduct ensembl:ENSG00000185697
MYB GeneProduct ensembl:ENSG00000118513
NFIB GeneProduct ensembl:ENSG00000147862
CREBBP GeneProduct ensembl:ENSG00000005339
MYCBP GeneProduct ensembl:ENSG00000214114
NCOR1 GeneProduct ensembl:ENSG00000141027 Which NCOR not specified
MYC GeneProduct hgnc.symbol:MYC
MYCN GeneProduct ensembl:ENSG00000134323
CEBPA GeneProduct ensembl:ENSG00000245848 CEBP Not Specified
MGA GeneProduct ensembl:ENSG00000174197
MAX GeneProduct ensembl:ENSG00000125952
SMARCA2 GeneProduct ensembl:ENSG00000080503
IL17RD GeneProduct ensembl:ENSG00000144730
FGF16 GeneProduct ensembl:ENSG00000196468
ERBB2IP GeneProduct ensembl:ENSG00000112851
FGFR4 GeneProduct ensembl:ENSG00000160867
INSRR GeneProduct ensembl:ENSG00000027644
PIK3CA GeneProduct ensembl:ENSG00000121879
ERBB2 GeneProduct ensembl:ENSG00000141736 ERBB Not Specified
HRAS GeneProduct ensembl:ENSG00000174775
PTEN GeneProduct ensembl:ENSG00000171862
MAGI1 GeneProduct ensembl:ENSG00000151276
MAGI2 GeneProduct ensembl:ENSG00000187391
RAF1 GeneProduct ensembl:ENSG00000132155 RAF Not Specified
AKT1 GeneProduct ensembl:ENSG00000142208 AKT Not Specified
FOXO3 GeneProduct ensembl:ENSG00000118689
MAP2K2 GeneProduct ensembl:ENSG00000126934
CNTN6 GeneProduct ensembl:ENSG00000134115
NOTCH1 GeneProduct ensembl:ENSG00000148400
CTBP1 GeneProduct ensembl:ENSG00000159692 CTBP Not Specified
FOXP2 GeneProduct ensembl:ENSG00000128573
DTX4 GeneProduct ensembl:ENSG00000110042
FBXW7 GeneProduct ensembl:ENSG00000109670
MYCN GeneProduct ensembl:ENSG00000134323
MAML3 GeneProduct ensembl:ENSG00000196782
NICD GeneProduct ensembl:ENSG00000148400 Using NOTCH identifier for NICD (Notch Intercellular Domain)
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Chk1 Protein uniprot:E7EPP6
Chk2 Protein uniprot:C9JFD7


  1. The mutational landscape of adenoid cystic carcinoma. Ho AS, Kannan K, Roy DM, Morris LGT, Ganly I, Katabi N, et al. Nat Genet. 2013 Jul;45(7):791–8. PubMed Europe PMC Scholia