Bimodal distribution of RNA expression levels in human skeletal muscle tissue

BMC Genomics

Table 5 Associations of 32 bimodal genes with cis-determining SNPs and reported CNV.

Bimodality confirmed in all data sets	Gene symbol	SNP association with expression p-val^a	Kappa coeff.	# of SNPs within 200 KB	Reported CNV^b
Yes	*GSTM1*	1.20E-11	0.65	36	Yes
Yes	*HLA-DRB1*	<1E-16	0.83	119	Yes
Yes	*ERAP2*	<1E-16	0.85	94	No
Yes	*HLA-DRB5*	2.12E-14	0.86	104	Yes
Yes	*MAOA*	<1E-16	0.80	69	No
Yes	*ACTN3*	<1E-16	0.90	9	No
	MEIS2	0.04	0.17	86	No
	*TMEM70*	<1E-16	0.39	76	No
	*SLC44A5*	<1E-16	0.74	112	Yes
Yes	NR4A2	0.26	0.00	36	No
	RAD23A	0.22	0.09	13	No
	*ABCC6*	2.88E-10	0.36	59	Yes
	CHAC1	0.035	0.12	12	No
	*FLJ11151*	8.62E-7	0.43	181	No
	BACE1	0.0037	0.17	79	No
Yes	*THNSL2*	<1E-16	0.95	74	No
	PKDREJ	0.023	0.02	24	Yes
	KLRD1	0.084	0.01	61	No
	KIAA1618	0.088	0.09	63	Yes
	C19orf62	0.022	0.01	41	Yes
	MYL2	0.061	0.00	52	No
	RPL18	0.17	0.10	19	Yes
	*HLA-C*	<1E-16	0.51	153	Yes
	COX6C	0.000097	0.15	36	No
	COPS7A	0.048	0.04	47	No
	PLEKHJ1	0.048	0.14	22	Yes
	*HSPC157*	<1E-16	0.84	64	Yes
	HMGCS2	0.0026	0.25	76	Yes
	OR8H1	0.049	0.23	49	No
	CYR61	0.012	0.11	100	No
	ELOF1	0.019	0.04	32	No
	ARF1	0.065	0.12	55	Yes

^a Highest SNP association shown. All other significant SNPs are listed in Additional file 5. Apparent cis-acting eQTL are identified in bold.
^b Copy number variation (CNV) as identified in the UCSC Genome Browser.

ISSN: 1471-2164