Table 2 Gene set enrichment analysis under a recessive mutation model.

From: The genetics of situs inversus without primary ciliary dyskinesia

Group

p-valuea

term size

query sizeb

overlap size

term ID

term name

intersection

samples

Pval Fisherc

Non-PCD SI (n=9)d

NS

 

38

      

Non-PCD SI LH (n=5) d

NS

 

26

      

Unsolved cases (n=5d

NS

 

22

      

SI with PCD (n=6)

3.85 × 10−5

17

40

4

GO:0036158

outer dynein arm assembly

DNAH5, CCDC114, LRRC6, DNAAF1

SI06, SI11, SI12, SI13, SI15, SI17

7.71 × 10−13

SI with PCD (n=6)

1.41 × 10−4

296

40

8

GO:0007018

microtubule-based movement

DNAH5, CCDC114, DNAH11, WDR60, LRRC6, DNAAF1, FMN2, DNAH12

SI06, SI08, SI11, SI12, SI13, SI15, SI17

9.74 × 10−15

SI with PCD (n=6)

4.89 × 10−5

48

40

5

GO:0030286

dynein complex

DNAH5, CCDC114, DNAH11, WDR60, DNAH12

SI08, SI11, SI12, SI13, SI15, SI17

1.68 × 10−13

SI with PCD (n=6)

0.004

113

40

5

GO:0005930

axoneme

DNAH5, CCDC114, DNAH11, DNAAF1, RP1L1

SI03, SI08, SI11, SI12, SI13, SI15, SI17

1.38 × 10−11

SI with PCD (n=6)

0.002

427

40

8

GO:0099568

cytoplasmic region

DNAH5, CCDC114, DNAH11, SHROOM2, DNAAF1, FMN2, RP1L1, PCLO

SI03, SI06, SI08, SI11, SI12, SI13, SI15, SI17

1.88 × 10−13

Unaffected controls (n=15)

NS

 

34

      
  1. LH: left-handed. aP-values are corrected for multiple testing using the gSCS method. NS: no significant gene sets. bThe number of mutated genes present in the GO schema. cUncorrected P-values were calculated using Fisher’s exact test. dResults were the same after excluding subject SI03.
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