Table 2. VPS35 D620N affects CD44 and HMMR RNA splice variant expression.

SpliceR program analysis was performed on the WT and VPS35 D620N RNA-Seq dataset. Relative expression profiles are presented for all NCBI annotated splice variants as a function of FPKM for (A)CD44 and (B)HMMR. Significance for differential expression of WT versus D620N is shown.

A
	Isoform	Ref. Seq.	Rel. Exp. WT	Rel. Exp. D620N	WT/D620N Ratio	p-value
	V1	NM_000610	0.0000	0.0000	INF	1
	V2	NM_001001389	0.0000	0.0142	0	1
	V3	NM_001001390	0.0000	0.0000	INF	1
	V4	NM_001001391	0.3387	1.0256	0.3303	0.0452
	V5	NM_001001392	0.1853	0.0000	INF	1
	V6	NM_001202555	0.0000	0.0256	0	1
	V7	NM_001202556	0.0000	0.0004	0.0954	1
	V8	NM_001202557	0.0444	0.0000	INF	1

B
	Isoform	Ref. Seq.	Rel. Exp. WT	Rel. Exp. D620N	WT/D620N Ratio	p-value
	V1	NM_001142556.1	5.1525	5.5884	0.9220	0.6159
	V2	NM_012484.2	0.9834	0.3711	2.6500	0.3170
	V3	NM_012485.2	13.5848	13.0535	1.0407	0.6639
	V4	NM_001142557.1	1.4806	0.6353	2.3306	0.2983