Depletion of GPSM1 enhances ovarian granulosa cell apoptosis via cAMP-PKA-CREB pathway in vitro

Cai, Xuzi; Fu, Huijiao; Wang, Yan; Liu, Qiwen; Wang, Xuefeng

doi:10.1186/s13048-020-00740-6

Journal of Ovarian Research

Table 1 Information about candidate gene (ND: no date)

From: Depletion of GPSM1 enhances ovarian granulosa cell apoptosis via cAMP-PKA-CREB pathway in vitro

Gene	Chr	Transcription ID	exon	Nucleotide change	AA change	dbSNP	Frequency	Pathogenic predictions						Genotype	Number of variant samples
Gene	Chr	Transcription ID	exon	Nucleotide change	AA change	dbSNP	1000 genomes	ExAC	Ployphen2	SIFT	Mutation Taster	LRT	Mutation Assessor	Genotype	Number of variant samples
OR2T29	Chr1	NM_001004694	1	c.26A > G	p.N9S	ND	ND	0.00009122	Benign	Deleterious	Probably harmless	Neutral	Medium	Heterozygous	5
ANKRD36C	Chr2	NM_001310154	16	c.1265 T > G	p. V422G	rs78715705	ND	0.0001	ND	Deleterious	Probably harmless	ND	ND	Heterozygous	4
FRG1	Chr4	NM_004477	5	c.330G > T	p. K110N	ND	ND	0.009	Probably damaging	Deleterious	Disease causing	Deleterious	Medium	Heterozygous	5
sPSPH	Chr7	NM_004577	5	c.268G > A	p. G90S	rs75395437	0.0002	0.0051	Probably damaging	Deleterious	Disease causing	Deleterious	Medium	Heterozygous	9
PABPC3	Chr13	NM_030979	1	c.541G > A	p. A181T	rs112107735	0.007189	0.0013	Possible	Deleterious	Disease causing	Unknown	Medium	Heterozygous	8
PABPC3	Chr13	NM_030980	1	c.691A > G	p. K231E	rs78826513	ND	0.002	Probably damaging	Deleterious	Disease causing	Unknown	Medium	Heterozygous	9
PABPC3	Chr13	NM_030981	1	c.832C > T	p. R278C	rs78552667	ND	0.0001	Benign	Deleterious	Disease causing	Unknown	Medium	Heterozygous	9
PABPC3	Chr13	NM_030982	1	c.859A > G	p. R287G	rs201411821	ND	0.0002	Benign	Deleterious	Disease causing	Unknown	High	Heterozygous	9
PABPC3	Chr13	NM_030983	1	c.938C > T	p. A313V	rs76994938	0.000399	0.00001648	Benign	Deleterious	Probably harmless	Unknown	Neutral	Heterozygous	8
PABPC3	Chr13	NM_030984	1	c.95C > T	p. T319I	rs80261016	ND	0	Possible	Deleterious	Disease causing	Unknown	Low	Heterozygous	9
LMO7	Chr13	NM_001306080	10	c.1610G > A	p. R537K	rs142687160	0.009185	0.0037	Benign	Deleterious	Disease causing	Deleterious	Neutral	Heterozygous	5
TPSAB1	Chr16	NM_003294	4	c.422C > T	p. T141I	rs1064781	ND	0.0068	Benign	Deleterious	Probably harmless	Neutral	Neutral	Heterozygous	8
TBC1D26	Chr17	NM_178571	5	c.167A > C	p. E56A	rs3852810	ND	0.0099	Possible	Deleterious	Probably harmless	Unknown	Medium	Heterozygous	4
CNN2	Chr19	NM_001303501	7	c.809 T > C	p.M270T	rs200177867	ND	0.00006856	Probably damaging	Deleterious	Disease causing	Unknown	Medium	Heterozygous	5
CNN2	Chr19	NM_001303501	7	c.810G > A	p.M270I	rs201532581	ND	0.00006856	Probably damaging	Deleterious	Disease causing	Unknown	Medium	Heterozygous	5
CNN2	Chr19	NM_001303501	7	c.812G > T	p. G271V	rs199741851	ND	0.00006855	Probably damaging	Deleterious	Disease causing	Unknown	Medium	Heterozygous	5
CNN2	Chr19	NM_001303501	7	c.850G > A	p. G284S	rs77830704	ND	0.0003	Probably damaging	Deleterious	Disease causing	Unknown	Medium	Heterozygous	5
CNN2	Chr19	NM_001303501	7	c.860G > A	p. R287Q	rs78386506	ND	0.0002	Possible	Deleterious	Disease causing	Unknown	Medium	Heterozygous	5
CNN2	Chr19	NM_001303501	7	c.875C > A	p. P292H	rs75676484	ND	0.00008565	Probably damaging	Deleterious	Disease causing	Deleterious	Medium	Heterozygous	5
DKKL1	Chr19	NM_001197301	2	c.72 T > G	p. L25R	rs2303757	0.004193	0.0021	Possible	Deleterious	Harmless	Neutral	Neutral	Heterozygous	5
SCUBE1	Chr22	NM_173050	10	c.1169C > G	p. P390R	rs185039637	0.001997	0.0011	Possible	Deleterious	Disease causing	Deleterious	Low	Heterozygous	3
GPSM1	Chr9	NM_001145638	14	c.1840C > A	p. Q614K	rs539775258	0.0002	0.000008446	Probably damaging	Deleterious	Disease causing	Deleterious	Medium	Heterozygous	3

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