SZGR2

Summary ?

GeneID	23225
Symbol	NUP210
Synonyms	GP210\|POM210
Description	nucleoporin 210kDa
Reference	MIM:607703\|HGNC:HGNC:30052\|Ensembl:ENSG00000132182\|HPRD:06368\|Vega:OTTHUMG00000157268
Gene type	protein-coding
Map location	3p25.1
Pascal p-value	0.033
Sherlock p-value	0.221
Fetal beta	0.755
DMG	1 (# studies)
eGene	Cerebellar Hemisphere Cerebellum Myers' cis & trans
Support	CompositeSet

Gene in Data Sources

Gene set name	Method of gene set	Description	Info
CV:GWASdb	Genome-wide Association Studies	GWASdb records for schizophrenia
CV:PGCnp	Genome-wide Association Study	GWAS
DMG:Wockner_2014	Genome-wide DNA methylation analysis	This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24).	1
DNM:Fromer_2014	Whole Exome Sequencing analysis	This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GSMA_I	Genome scan meta-analysis	Psr: 0.006

Section I. Genetics and epigenetics annotation

DNM table

Gene	Chromosome	Position	Ref	Alt	Transcript	AA change	Mutation type	Sift	CG46	Trait	Study
NUP210	chr3	13368735	C	T	NM_024923	p.1497V>I	missense			Schizophrenia	DNM:Fromer_2014

Differentially methylated gene

Probe	Chromosome	Position	Nearest gene	P (dis)	Beta (dis)	FDR (dis)	Study
cg01562813	3	13420826	NUP210	5.044E-4	0.723	0.047	DMG:Wockner_2014

eQTL annotation

SNP ID	Chromosome	Position	eGene	Gene Entrez ID	qvalue	eQTL type
rs17036821	chr3	12533147	NUP210	23225	2.919E-4	cis
rs7525341	chr1	39430178	NUP210	23225	0.01	trans
rs2457070	chr1	48024772	NUP210	23225	0.04	trans
snp_a-1924461		0	NUP210	23225	0.08	trans
rs12046770	chr1	100036271	NUP210	23225	0.11	trans
rs17483451		0	NUP210	23225	0.05	trans
rs17565949	chr1	109527612	NUP210	23225	0.05	trans
rs12564871	chr1	163771926	NUP210	23225	2.441E-4	trans
rs13374982	chr1	163772454	NUP210	23225	0.07	trans
rs697455	chr1	202512075	NUP210	23225	0.01	trans
rs12079530	chr1	203368216	NUP210	23225	0.06	trans
rs12058586	chr1	209770437	NUP210	23225	0.06	trans
rs1931329	chr1	229887908	NUP210	23225	0.01	trans
rs9424509	chr1	233072174	NUP210	23225	0.01	trans
snp_a-2273867		0	NUP210	23225	0.02	trans
rs6430976	chr2	128822384	NUP210	23225	2.12E-10	trans
rs11684252	chr2	128829365	NUP210	23225	4.381E-6	trans
rs16829545	chr2	151977407	NUP210	23225	9.324E-13	trans
rs193602	chr2	202677291	NUP210	23225	0.01	trans
rs7585095	chr2	202687013	NUP210	23225	0.01	trans
rs1030289	chr2	208326655	NUP210	23225	0.04	trans
rs16866455	chr2	225871746	NUP210	23225	0.01	trans
rs31276	chr2	229920519	NUP210	23225	0.08	trans
rs17036821	chr3	12533147	NUP210	23225	0.03	trans
rs1816996	chr3	30007104	NUP210	23225	0.07	trans
rs13317986	chr3	84720981	NUP210	23225	0.01	trans
rs16851413	chr3	105380523	NUP210	23225	0.16	trans
rs4680661	chr3	165505524	NUP210	23225	0.17	trans
rs6766336	chr3	171320906	NUP210	23225	0.09	trans
rs16831155	chr3	173574763	NUP210	23225	0	trans
rs16860219	chr3	185493589	NUP210	23225	0	trans
rs2885550	chr3	190457297	NUP210	23225	0.2	trans
rs4368678	chr4	6712461	NUP210	23225	0.13	trans
rs10030508	chr4	38939115	NUP210	23225	0.07	trans
snp_a-4206824		0	NUP210	23225	0.08	trans
rs17000340	chr4	76135365	NUP210	23225	0.1	trans
rs17004874	chr4	81214574	NUP210	23225	2.621E-11	trans
rs4349595	chr4	82517335	NUP210	23225	0.02	trans
rs17017846	chr4	91898937	NUP210	23225	0.06	trans
rs17034289	chr4	157174337	NUP210	23225	0.17	trans
rs17036588	chr4	158561487	NUP210	23225	1.065E-8	trans
rs715658	chr4	168851620	NUP210	23225	0.01	trans
rs7655225	chr4	170265627	NUP210	23225	0.09	trans
rs7730772	chr5	87445192	NUP210	23225	0.06	trans
rs11949627	chr5	100746396	NUP210	23225	0.14	trans
rs7728190	chr5	126593184	NUP210	23225	0.09	trans
rs11957269	chr5	126618120	NUP210	23225	0.09	trans
rs1366150	chr5	162627643	NUP210	23225	0.14	trans
rs17064998		0	NUP210	23225	0	trans
rs4976671	chr5	176476197	NUP210	23225	5.31E-5	trans
rs17629180	chr6	34285608	NUP210	23225	0.1	trans
rs17696583	chr6	34291764	NUP210	23225	0.09	trans
rs4713782	chr6	34401280	NUP210	23225	0.08	trans
rs802177	chr6	70876920	NUP210	23225	0.04	trans
rs3734661	chr6	90651149	NUP210	23225	0.09	trans
rs16883826	chr6	91671158	NUP210	23225	0.01	trans
rs9342378	chr6	94468892	NUP210	23225	0.14	trans
rs17067643	chr6	138791793	NUP210	23225	0.17	trans
rs17138193	chr7	7848940	NUP210	23225	0.01	trans
rs1440240	chr7	9244624	NUP210	23225	0.17	trans
rs7778042	chr7	29637891	NUP210	23225	0.04	trans
rs2286155	chr7	50827937	NUP210	23225	0.15	trans
snp_a-2189492		0	NUP210	23225	0.19	trans
rs17348162	chr8	4672579	NUP210	23225	0.01	trans
rs2720589	chr8	17467802	NUP210	23225	0.06	trans
rs7838790	chr8	78334984	NUP210	23225	0.05	trans
rs2449539	chr8	98847254	NUP210	23225	0.05	trans
rs2512062	chr8	98847718	NUP210	23225	0.05	trans
rs17722245	chr9	1070774	NUP210	23225	0.04	trans
rs17618655	chr9	73983104	NUP210	23225	3.584E-11	trans
rs11255704	chr10	8501820	NUP210	23225	0	trans
rs12268320	chr10	19362282	NUP210	23225	0.04	trans
rs1539322	chr10	22705774	NUP210	23225	0.08	trans
rs4748908	chr10	24014121	NUP210	23225	0.08	trans
rs703018	chr10	28621506	NUP210	23225	0.04	trans
rs1262024	chr10	28634645	NUP210	23225	0.17	trans
rs1763437	chr10	29271860	NUP210	23225	0.05	trans
rs4934985	chr10	33905260	NUP210	23225	5.244E-9	trans
rs12219173	chr10	68689566	NUP210	23225	0.19	trans
rs2574789	chr10	78851341	NUP210	23225	0.09	trans
rs17808274	chr10	107531368	NUP210	23225	0	trans
rs822330	chr10	108913661	NUP210	23225	0.01	trans
rs7928511	chr11	41805700	NUP210	23225	0.09	trans
rs2276020	chr11	67257555	NUP210	23225	2.664E-4	trans
rs2156215	chr11	78825462	NUP210	23225	0	trans
rs2198255	chr11	80187110	NUP210	23225	0.1	trans
rs17311479	chr11	80190209	NUP210	23225	0.1	trans
rs509027	chr11	109200795	NUP210	23225	0	trans
rs11214244	chr11	112434429	NUP210	23225	0.02	trans
rs9633948	chr11	119731209	NUP210	23225	0.06	trans
rs470876	chr11	120013306	NUP210	23225	0.07	trans
rs10491959	chr12	1788032	NUP210	23225	0.01	trans
rs4148663	chr12	22035614	NUP210	23225	0.01	trans
rs7953173	chr12	44488755	NUP210	23225	8.632E-5	trans
rs10876176	chr12	51811831	NUP210	23225	0.08	trans
rs1493193	chr12	51906348	NUP210	23225	0.08	trans
rs7302923	chr12	51916585	NUP210	23225	0.08	trans
rs11115141	chr12	82382176	NUP210	23225	0.06	trans
rs11115761	chr12	83764788	NUP210	23225	0.15	trans
rs11115842	chr12	83828875	NUP210	23225	0.15	trans
rs11115868	chr12	83845663	NUP210	23225	0.15	trans
rs960333	chr12	114550809	NUP210	23225	0.16	trans
rs17089379	chr13	64433308	NUP210	23225	0.02	trans
rs6574911	chr14	26806521	NUP210	23225	0.19	trans
rs1253651	chr14	52428425	NUP210	23225	0.17	trans
rs998650	chr14	66640006	NUP210	23225	0.05	trans
rs2146229	chr14	67775691	NUP210	23225	0.04	trans
rs12589306	chr14	74881306	NUP210	23225	0.19	trans
rs10467741	chr14	83585040	NUP210	23225	1.209E-8	trans
rs234148	chr14	98155018	NUP210	23225	0.11	trans
rs17115060	chr15	25279861	NUP210	23225	0.09	trans
rs782949	chr15	61344246	NUP210	23225	0.16	trans
snp_a-4228996		0	NUP210	23225	0.06	trans
rs11873184	chr18	1584081	NUP210	23225	0.03	trans
rs16952078	chr18	7531387	NUP210	23225	7.212E-4	trans
rs2333639	chr18	64530563	NUP210	23225	0.14	trans
rs8107683	chr19	35901140	NUP210	23225	0.09	trans
rs6032295	chr20	44178138	NUP210	23225	0.01	trans
rs8126261	chr20	53146240	NUP210	23225	4.091E-5	trans
rs6098196	chr20	53340365	NUP210	23225	0.19	trans
rs1412196	chr20	58675024	NUP210	23225	0.19	trans
rs6513478	chr20	58676660	NUP210	23225	0	trans
rs6092877	chr20	58712456	NUP210	23225	0	trans
rs1344430	chr20	60099390	NUP210	23225	0.15	trans
rs915529	chr21	33726325	NUP210	23225	0.03	trans
rs135346	chr22	48409540	NUP210	23225	0.01	trans
rs5943566	chrX	28401493	NUP210	23225	0.19	trans
rs6652005		0	NUP210	23225	7.845E-4	trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions

Section III. Gene Ontology annotation

Molecular function	GO term	Evidence	Neuro keywords	PubMed ID
GO:0005515	protein binding	IPI		15231747
Biological process	GO term	Evidence	Neuro keywords	PubMed ID
GO:0051028	mRNA transport	IEA		-
GO:0015031	protein transport	IEA		-
GO:0065002	intracellular protein transmembrane transport	IEA		-
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0005789	endoplasmic reticulum membrane	IEA		-
GO:0005634	nucleus	IEA		-
GO:0005643	nuclear pore	IEA		-
GO:0005783	endoplasmic reticulum	IEA		-
GO:0016020	membrane	IEA		-
GO:0016021	integral to membrane	IEA		-
GO:0031965	nuclear membrane	IEA		-

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
REACTOME METABOLISM OF NON CODING RNA	49	29	All SZGR 2.0 genes in this pathway
REACTOME ANTIVIRAL MECHANISM BY IFN STIMULATED GENES	66	45	All SZGR 2.0 genes in this pathway
REACTOME PROCESSING OF CAPPED INTRON CONTAINING PRE MRNA	140	77	All SZGR 2.0 genes in this pathway
REACTOME TRANSPORT OF MATURE TRANSCRIPT TO CYTOPLASM	54	34	All SZGR 2.0 genes in this pathway
REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES	413	270	All SZGR 2.0 genes in this pathway
REACTOME MRNA PROCESSING	161	86	All SZGR 2.0 genes in this pathway
REACTOME TRANSPORT OF MATURE MRNA DERIVED FROM AN INTRONLESS TRANSCRIPT	33	21	All SZGR 2.0 genes in this pathway
REACTOME SLC MEDIATED TRANSMEMBRANE TRANSPORT	241	157	All SZGR 2.0 genes in this pathway
REACTOME GLUCOSE TRANSPORT	38	29	All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF RNA	330	155	All SZGR 2.0 genes in this pathway
REACTOME INTERFERON SIGNALING	159	116	All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF CARBOHYDRATES	247	154	All SZGR 2.0 genes in this pathway
REACTOME INFLUENZA LIFE CYCLE	203	72	All SZGR 2.0 genes in this pathway
REACTOME NEP NS2 INTERACTS WITH THE CELLULAR EXPORT MACHINERY	27	19	All SZGR 2.0 genes in this pathway
REACTOME HIV INFECTION	207	122	All SZGR 2.0 genes in this pathway
REACTOME TRANSPORT OF RIBONUCLEOPROTEINS INTO THE HOST NUCLEUS	27	19	All SZGR 2.0 genes in this pathway
REACTOME HIV LIFE CYCLE	125	69	All SZGR 2.0 genes in this pathway
REACTOME HOST INTERACTIONS OF HIV FACTORS	132	81	All SZGR 2.0 genes in this pathway
REACTOME LATE PHASE OF HIV LIFE CYCLE	104	61	All SZGR 2.0 genes in this pathway
REACTOME INTERACTIONS OF VPR WITH HOST CELLULAR PROTEINS	33	21	All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF GLUCOKINASE BY GLUCOKINASE REGULATORY PROTEIN	27	19	All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM	933	616	All SZGR 2.0 genes in this pathway
REACTOME CYTOKINE SIGNALING IN IMMUNE SYSTEM	270	204	All SZGR 2.0 genes in this pathway
CHEMNITZ RESPONSE TO PROSTAGLANDIN E2 UP	146	86	All SZGR 2.0 genes in this pathway
GARY CD5 TARGETS UP	473	314	All SZGR 2.0 genes in this pathway
SLEBOS HEAD AND NECK CANCER WITH HPV UP	84	43	All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 1 UP	380	236	All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 UP	418	263	All SZGR 2.0 genes in this pathway
LASTOWSKA NEUROBLASTOMA COPY NUMBER DN	800	473	All SZGR 2.0 genes in this pathway
MATTIOLI MGUS VS PCL	116	62	All SZGR 2.0 genes in this pathway
SCHLOSSER MYC TARGETS REPRESSED BY SERUM	159	93	All SZGR 2.0 genes in this pathway
MOHANKUMAR TLX1 TARGETS UP	414	287	All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK	1652	1023	All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK	1442	892	All SZGR 2.0 genes in this pathway
PUJANA CHEK2 PCC NETWORK	779	480	All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS DN	848	527	All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS DN	1024	594	All SZGR 2.0 genes in this pathway
WEI MIR34A TARGETS	148	97	All SZGR 2.0 genes in this pathway
ALCALAY AML BY NPM1 LOCALIZATION DN	184	132	All SZGR 2.0 genes in this pathway
DEBIASI APOPTOSIS BY REOVIRUS INFECTION DN	287	208	All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED	1022	619	All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS DN	292	189	All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS SILENCED BY METHYLATION DN	281	179	All SZGR 2.0 genes in this pathway
MCCABE BOUND BY HOXC6	469	239	All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN DN	249	165	All SZGR 2.0 genes in this pathway
TOYOTA TARGETS OF MIR34B AND MIR34C	463	262	All SZGR 2.0 genes in this pathway
LEE DIFFERENTIATING T LYMPHOCYTE	200	115	All SZGR 2.0 genes in this pathway
SHEDDEN LUNG CANCER POOR SURVIVAL A6	456	285	All SZGR 2.0 genes in this pathway
YAGI AML WITH T 8 21 TRANSLOCATION	368	247	All SZGR 2.0 genes in this pathway
PYEON CANCER HEAD AND NECK VS CERVICAL UP	193	95	All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA CLASSES UP	605	377	All SZGR 2.0 genes in this pathway
MARTENS BOUND BY PML RARA FUSION	456	287	All SZGR 2.0 genes in this pathway
ACOSTA PROLIFERATION INDEPENDENT MYC TARGETS UP	84	51	All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN	1972	1213	All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS DN	553	343	All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION UP	570	339	All SZGR 2.0 genes in this pathway
PHONG TNF RESPONSE VIA P38 COMPLETE	227	151	All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL DN	428	246	All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family	Target position			miRNA ID	miRNA seq
miRNA family	UTR start	UTR end	Match method	miRNA ID	miRNA seq
miR-125/351	399	406	1A,m8	hsa-miR-125b^brain	UCCCUGAGACCCUAACUUGUGA
miR-125/351	399	406	1A,m8	hsa-miR-125a^brain	UCCCUGAGACCCUUUAACCUGUG

SZ: miRNAs which differentially expressed in brain cortex of schizophrenia patients comparing with control samples using microarray. Click here to see the list of SZ related miRNAs.
Brain: miRNAs which are expressed in brain based on miRNA microarray expression studies. Click here to see the list of brain related miRNAs.

Gene Page: NUP210