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.

Nehrt et al. BMC Genomics 2012 13(Suppl 4):S9   doi:10.1186/1471-2164-13-S4-S9

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