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| | | |
Missense change
|
Truncating mutation
|
|---|
|
Symbol
|
Protein
|
RefSeq ID
|
Ratioa
|
Significanceb
|
Ratioa
|
Significancec
|
|---|
|
CETPd
|
cholesteryl ester transfer protein, plasma
|
NM_000078.1
|
4.34
|
NS
|
8.57
|
*
|
|
CD55e
|
decay accelerating factor for complement
|
NM_000574.2
|
2.03
|
*
|
1.88
|
NS
|
|
CMKOR1f
|
chemokine orphan receptor 1
|
NM_020311.1
|
6.85
|
**
|
6.29
|
*
|
|
EMILIN2f
|
elastin microfibril interfacer 2
|
NM_032048.1
|
2.34
|
***
|
2.49
|
***
|
|
HSPA1Be
|
heat shock 70 kDa protein 1B
|
NM_005346.3
|
4.00
|
*
|
2.66
|
NS
|
|
KDM5Be
|
lysine (K)-specific demethylase 5B
|
NM_006618.2
|
3.18
|
***
|
1.94
|
NS
|
|
KIAA0469d
|
KIAA0469
|
XM_375685.1
|
1.52
|
NS
|
1.74
|
*
|
|
MGC20983f
|
hypothetical protein LOC115948
|
NM_145045.3
|
2.72
|
*
|
2.94
|
*
|
|
MKNK2f
|
MAP kinase-interacting serine/threonine kinase 2
|
NM_017572.2
|
2.07
|
*
|
2.40
|
**
|
|
MYCf
|
myc proto-oncogene protein
|
NM_002467.2
|
2.54
|
**
|
2.89
|
**
|
|
SLAMF6f
|
activating NK receptor precursor
|
NM_052931.3
|
2.71
|
**
|
2.41
|
*
|
|
TNFSF4f
|
tumor necrosis factor (ligand) superfamily
|
NM_003326.2
|
0.20
|
**
|
0.12
|
**
|
- NS: Not significant; *: P < 0.05; **: P < 0.01; ***: P < 0.001
- a) Ratio was calculated as the mean expression divided by mean control expression
- b) Level of significance was calculated by students' t-test using expression data from carriers of missense changes (n = 8)
- c) Level of significance was calculated by students' t-test using expression data from carriers of truncating mutations (n = 4)
- d) Genes significantly deregulated in truncating mutation carriers
- e) Genes significantly deregulated in missense change carriers
- f)7 genes that are significantly deregulated for both mutation types are marked in bold
