Gene Report

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Basic Info

Approved Symbol	NPTX1
Approved Name	neuronal pentraxin I
Location	17q25.3
Position	chr17:80467148-80477843, -1
External Links	HGNC: 7952 Entrez Gene: 4884 Ensembl: ENSG00000171246 UCSC: uc002jyp.1
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Rajkumar, A. P., 2014	SNP: rs11657796	After Bonferroni corrections, NPTX1 was the only gene that showed a study-wise significant association with BD.	Positive	Comment on Study
Bergen, S. E.,2012	SNP: rs11150863	No significant association was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007417	central nervous system development	biological process	TAS[8884281]	21
GO:0005886	plasma membrane	cellular component	IEA	360
GO:0007268	synaptic transmission	biological process	TAS[8884281]	116

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006839	mitochondrial transport	biological process	IEA	2
GO:0030133	transport vesicle	cellular component	IEA	4
GO:0035865	cellular response to potassium ion	biological process	IEA	2
GO:0006810	transport	biological process	TAS[8884281]	47
GO:0043005	neuron projection	cellular component	IEA	38
GO:0060385	axonogenesis involved in innervation	biological process	IEA	1
GO:0043653	mitochondrial fragmentation involved in apoptotic process	biological process	IEA	2
GO:0005739	mitochondrion	cellular component	IEA	75
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0071333	cellular response to glucose stimulus	biological process	IEA	7

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
NPTX1	NPTXR	NO	in vitro;in vivo	10748068
NPTX1	RCN2	NO	in vitro;in vivo	10748068

Related other genetic factors

Gene related SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs11150863	chr17:80558521 - 80558521(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)
rs11657796	chr17:80473534 - 80473534(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
17q25	chr17:72900000-83257441	1 (0/0/1)
17q11-25	chr17:25100000-83257441	1 (1/0/0)
Chr 17	chr17:0-83257441	3 (0/3/0)

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

Gene relationship with SZ

Reference	Description	Result Category
22688191	No significant association was observed in SZ.	Negative

Gene relationship with MDD

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Region: chr17:80467148..80477843 View in gBrowse