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	NUP107
Symbol Alias	NUP84
Approved Name	nucleoporin 107kDa
Location	12q14
Position	chr12:68686734-68745809, 1
External Links	HGNC: 29914 Entrez Gene: 57122 Ensembl: ENSG00000111581 UCSC: uc001suf.3
No. of Studies	1 (Positive: 1; Negative: 0; 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
Hattori, E.,2009	SNP: rs10519476	After the two-stage analysis, markers in this gene remained nominally significant (allelic P<0.05) with the same allele being consistently over-represented in both the first and the follow-up stages.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 31)

GO terms by PBA (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[19946888]	137

GO terms by database search (count: 30)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0015758	glucose transport	biological process	TAS	7
GO:0005975	carbohydrate metabolic process	biological process	TAS	12
GO:0005635	nuclear envelope	cellular component	TAS	10
GO:0010827	regulation of glucose transport	biological process	TAS	2
GO:0005643	nuclear pore	cellular component	IDA[11564755]	3
GO:0000278	mitotic cell cycle	biological process	TAS	33
GO:0034399	nuclear periphery	cellular component	IDA[15229283]	2
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0019083	viral transcription	biological process	TAS	2
GO:0010467	gene expression	biological process	TAS	41
GO:0000777	condensed chromosome kinetochore	cellular component	IEA	7
GO:0008645	hexose transport	biological process	TAS	2
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0005487	nucleocytoplasmic transporter activity	molecular function	IDA[11684705]	2
GO:0016032	viral process	biological process	TAS	26
GO:0051292	nuclear pore complex assembly	biological process	IMP[15229283]	1
GO:0005813	centrosome	cellular component	IDA	34
GO:0006406	mRNA export from nucleus	biological process	IDA[11684705]	4
GO:0005829	cytosol	cellular component	TAS	223
GO:0017056	structural constituent of nuclear pore	molecular function	IMP[15229283]	1
GO:0009405	pathogenesis	biological process	TAS	13
GO:0031965	nuclear membrane	cellular component	IDA[12802065]	15
GO:0019058	viral life cycle	biological process	TAS	3
GO:0005515	protein binding	molecular function	IPI[11564755]	563
GO:0031080	nuclear pore outer ring	cellular component	IDA[17360435]; NAS[15146057]	1
GO:0015031	protein transport	biological process	IEA	21
GO:0007077	mitotic nuclear envelope disassembly	biological process	TAS	3
GO:0000776	kinetochore	cellular component	IDA[17363900]	7
GO:0019221	cytokine-mediated signaling pathway	biological process	TAS	23

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
NUP107	NUP133	NO	in vitro;in vivo	11564755
NUP107	NUP214	YES	in vivo	9166401

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)
rs10519476	chr12:68690346 - 68690346(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 3)

rs_ID	Location	Functional Annotation
rs11608404	chr12:68690761 - 68690761(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs17572655	chr12:68691430 - 68691430(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs10878864	chr12:68744751 - 68744751(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_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 12	chr12:0-133275309	3 (0/3/0)
12q	chr12:38200000-133851895	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr12:68686734..68745809 View in gBrowse