Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation

Table 2 All de novo or neurologically relevant loss-of-function mutations from exome sequencing of selected families

Case	Sample ID	Position	Gene	Isoform	Change	Effect	Source	RVIS (%)^a	pLI^b
A	8961143	chr4:69,403,498-69,403,498	UGT2B17	NM_001077	p.A480T	Missense	de novo	96.5	0.01
G	1648	chr18:3,102,478	MYOM1	NM_003803	p.G1190A	Missense	de novo	81.7	0.00
		chrX:114,347,884-114,347,887	LRCH2	NM_020871	p.C730fs	Frameshift del	de novo	53.2	0.92
J	896553	chr14:24,677,345	TSSK4	NM_001184739	p.T337M	Missense	de novo	77.7	0.00
		chr14:74,947,404	NPC2	NM_006432	c.548 + 1C > T	Splice site	mat	71.1	0.01
K	1213	chr9:2,824,808	KIAA0020	NM_014878	p.I348N	Missense	de novo	78.9	0.00
R	0625-3695-3	chr9:107,266,546	OR13F1	NM_001004485	p.M1I	Missense	de novo	95.9	0.00
			USP54	NM_152586	p.R1395X	Nonsense	pat	91.4	0.00
C	1254	chrX:148,048,382-148,048,393	AFF2	NM_002025	p.992_996del	Deletion	mat	7.2	1.00
		chr11:637,537-637,549	DRD4	NM_000797	p.A78fs	Frameshift del	mat	N/A	0.00
		chr3:129,155,547	MBD4	NM_003925	p.E314fs	Frameshift ins	mat	83.4	0.00
F	0625-4262-1	chr5:145,895,394	GPR151	NM_194251	p.R95X	Nonsense	mat	78.7	0.00
O	1298	chr19:11,325,007	DOCK6	NM_020812	p.Q1428X	Nonsense	mat	9.4	0.00

The above variants were validated in proband and parental samples using Sanger sequencing
^aResidual Variation Intolerance Score
^bProbability of Loss-of-Function Intolerance

ISSN: 1866-1955