Gene Report

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Basic Info

Approved Symbol	PSPC1
Symbol Alias	PSP1, FLJ10955
Approved Name	paraspeckle component 1
Location	13q11
Position	chr13:19674752-19783019, -1
External Links	HGNC: 20320 Entrez Gene: 55269 Ensembl: ENSG00000121390 UCSC: uc021rgx.1
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Ross, K. A.,2011	SNP: rs9551988 Haplotype: rs10502407 - rs9551988(), rs12227938 - rs9551988(), rs2122231 - rs9551988(), rs4850057 - rs9551988(), rs9551988 - (SNP A-1797773)(), rs12070036 - rs9551988()	No significant association of this gene was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005515	protein binding	molecular function	IPI[16148043]	563
GO:0042382	paraspeckles	cellular component	IEA	1
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0048511	rhythmic process	biological process	IEA	7
GO:0005737	cytoplasm	cellular component	IEA	322
GO:0044822	poly(A) RNA binding	molecular function	IDA[22658674]	44
GO:0045892	negative regulation of transcription, DNA-templated	biological process	ISS	43
GO:0000166	nucleotide binding	molecular function	IEA	17
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0016607	nuclear speck	cellular component	IEA	16
GO:0042752	regulation of circadian rhythm	biological process	ISS	12
GO:0001047	core promoter binding	molecular function	ISS	8
GO:0016363	nuclear matrix	cellular component	IEA	7
GO:0005730	nucleolus	cellular component	IDA	28

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PSPC1	C1orf103	NO	yeast 2-hybrid	16169070
PSPC1	NONO	NO	in vitro;in vivo	16148043
PSPC1	SFPQ	NO	in vivo	15140795

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs9551988	chr13:19719577 - 19719577(1)	intron_variant; NMD_transcript_variant	1(0/1/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
13p11.1-13q13	chr13:16500000-39500000	1 (0/0/1)
13q12-14	chr13:18900000-54700000	1 (0/1/0)
13q12	chr13:18900000-31600000	2 (0/1/1)
Chr 13	chr13:0-114364328	1 (0/0/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr13:19674752..19783019 View in gBrowse