Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	RPGRIP1L
Symbol Alias	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134
Approved Name	RPGRIP1-like
Name Alias	fantom homolog, "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"
Location	16q12.2
Position	chr16:53597683-53703938, -1
External Links	HGNC: 29168 Entrez Gene: 23322 Ensembl: ENSG00000103494 UCSC: uc002ehp.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Schanze, D.,2011	SNP: rs9922369	In a German population, we found none of the GWA risk alleles associated with psychosis.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 32)

GO terms by PBA (count: 0)

GO terms by database search (count: 32)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0042384	cilium assembly	biological process	IEA	7
GO:0005923	tight junction	cellular component	IEA	13
GO:0007163	establishment or maintenance of cell polarity	biological process	IEA	5
GO:0043584	nose development	biological process	IEA	1
GO:0021532	neural tube patterning	biological process	IEA	1
GO:0021549	cerebellum development	biological process	IEA	3
GO:0001701	in utero embryonic development	biological process	IEA	17
GO:0001889	liver development	biological process	IEA	14
GO:0090102	cochlea development	biological process	IEA	7
GO:0045744	negative regulation of G-protein coupled receptor protein signaling pathway	biological process	IDA[19464661]	2
GO:0005930	axoneme	cellular component	IDA[17558409]	4
GO:0060039	pericardium development	biological process	IEA	1
GO:0022038	corpus callosum development	biological process	IEA	1
GO:0035115	embryonic forelimb morphogenesis	biological process	IEA	2
GO:0007368	determination of left/right symmetry	biological process	IEA	3
GO:0005829	cytosol	cellular component	TAS	223
GO:0035869	ciliary transition zone	cellular component	IEA	2
GO:0005911	cell-cell junction	cellular component	IDA[21565611]	16
GO:0021772	olfactory bulb development	biological process	IEA	4
GO:0006996	organelle organization	biological process	TAS	23
GO:0005929	cilium	cellular component	IDA[17558409]	10
GO:0021670	lateral ventricle development	biological process	IEA	2
GO:0001736	establishment of planar polarity	biological process	IEA	3
GO:0005737	cytoplasm	cellular component	IDA[17558409]	322
GO:0008589	regulation of smoothened signaling pathway	biological process	IEA	7
GO:0035116	embryonic hindlimb morphogenesis	biological process	IEA	2
GO:0031870	thromboxane A2 receptor binding	molecular function	IPI[19464661]	1
GO:0036064	ciliary basal body	cellular component	IDA[17558409]	8
GO:0001822	kidney development	biological process	IEA	13
GO:0005515	protein binding	molecular function	IPI[17558407]	563
GO:0005813	centrosome	cellular component	IDA[17558409]	34
GO:0043010	camera-type eye development	biological process	IEA	3

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 4)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs9922369	chr16:53614570 - 53614570(1)	intron_variant	1(0/1/0)

LD-proxies (count: 3)

rs_ID	Location	Functional Annotation
rs17215517	chr16:53649673 - 53649673(1)	downstream_gene_variant; intron_variant
rs16952410	chr16:53646283 - 53646283(1)	intron_variant
rs17215558	chr16:53649804 - 53649804(1)	downstream_gene_variant; intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 16	chr16:0-90338345	5 (1/3/1)
16q12.2-23.1	chr16:52600000-79200000	1 (0/0/1)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
21302348	In a German population, we found none of the GWA risk alleles associated with psychosis.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 2)

Reference	ID in SZGene	Result Category
19844207	736	Trend
18677311	736	Positive

Gene relationship with MDD

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Region: chr16:53597683..53703938 View in gBrowse