Domain landscapes of somatic mutations in cancer

BMC Genomics

Table 3 Selected domains highly mutated in colon cancer tumor genomes

Name	Accession	Mutations	Cumulative Domain Length	Genes (Number of Mutations)
APC_basic	PF05956	5	356	APC (5)
APC_crr	PF05923	8	176	APC (8)
CortBP2*	PF09727	9	726	CTTNBP2NL (1), CTTNBP2 (2), FILIP1 (5), FILIP1L (1)
MH2	PF03166	14	731	SMAD4 (9), SMAD9 (2), SMAD2 (1), SMAD3 (1), GARS (1)
Miro	PF08477	77	5861	KRAS (28), NRAS (7), RAB27B (2), RAB11B (2), RABL3 (2) + 46 genes with 36 additional mutations
MutS_IV	PF05190	6	380	MSH4 (2), MSH6 (2), MSH5(1), MSH2 (1)
PI3K_p85B	PF02192	4	231	PIK3CA (4)
P53	PF00870	28	390	TP53 (27), TP63 (1)
TAS2R	PF05296	132	6557	TAS2R43 (36), TAS2R31 (31), TAS2R30 (25), TAS2R19 (21) + 19 genes with 27 additional mutations
WAP	PF00095	6	299	WFDC8 (3), SLPI (1), WFDC5 (1), KAL1 (1)

Selected list of significantly mutated domains as identified by LFDR (threshold < 0.1) of the mutation frequencies normalized by the cumulative domain length for all domains. The domain name and Pfam domain accession are provided. Mutation counts are the total counts of somatic mutations identified in 100 colon cancer patients which occur inside the associated protein domain region. Cumulative domain length is the cumulative amino acid length of all occurrences of a domain within all representative proteins for genes containing somatic mutations. The genes and associated mutation counts are listed for each gene containing mutations in the domain. The “*” next to the CortBP2 domain denotes that the domain did not reach the threshold for significant mutation frequency, but ranked in the top 75 highest mutation frequency domains.

ISSN: 1471-2164