Table 2.

Differentially expressed genes in lymphoblastoid cell lines from MR patients with changes in KDM5C.

			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