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| | | |
Missense change
|
Truncating mutation
|
|---|
|
Symbol
| |
Sequence ID
|
Ratioa
|
Significanceb
|
Ratioa
|
Significancec
|
|---|
|
CETPd
|
cholesteryl ester transfer protein, plasma
|
NM_000078.1
| |
ND
| |
ND
|
|
CD55e
|
decay accelerating factor for complement
|
NM_000574.2
|
7.50
|
**
|
1.00
|
NS
|
|
CMKOR1f
|
chemokine orphan receptor 1
|
NM_020311.1
|
6.30
|
***
|
3.40
|
***
|
|
EMILIN2
|
elastin microfibril interfacer 2
|
NM_032048.1
|
1.18
|
NS
|
0.82
|
NS
|
|
HSPA1Be
|
heat shock 70 kDa protein 1B
|
NM_005346.3
|
2.71
|
*
|
1.34
|
NS
|
|
KDM5Bf
|
lysine (K)-specific demethylase 5B
|
NM_006618.2
|
3.74
|
***
|
1.58
|
*
|
|
KIAA0469f
|
KIAA0469
|
XM_375685.1
|
3.22
|
***
|
2.04
|
**
|
|
MGC20983d
|
hypothetical protein LOC115948
|
NM_145045.3
| |
ND
| |
ND
|
|
MKNK2e
|
MAP kinase-interacting serine/threonine kinase 2
|
NM_017572.2
|
3.65
|
***
|
1.27
|
NS
|
|
MYC
|
myc proto-oncogene protein
|
NM_002467.2
|
1.20
|
NS
|
0.75
|
NS
|
|
SLAMF6
|
activating NK receptor precursor
|
NM_052931.3
|
1.09
|
NS
|
1.08
|
NS
|
|
TNFSF4e
|
tumor necrosis factor (ligand) superfamily
|
NM_003326.2
|
1.66
|
*
|
0.99
|
NS
|
- ND: Not determined; NS: Not significant; *: P < 0.05; **: P < 0.01; ***: P < 0.001
- a) Ratio was calculated as the mean expression from affected in the family divided by mean control expression
- b) Level of significance was calculated by students' t-test using expression data from patients with missense a change (n = 2) and controls (n = 5)
- c) Level of significance was calculated by students' t-test using expression data from patients premature termination (n = 2) and controls (n = 5)
- d)Genes with too low expression for reliable QRT-PCR evaluation
- e) Genes significantly deregulated in missense change carriers
- f) 3 genes that are significantly deregulated in affected from both families are marked in bold
