SZGR2

Summary ?

GeneID	4719
Symbol	NDUFS1
Synonyms	CI-75Kd\|CI-75k\|PRO1304
Description	NADH:ubiquinone oxidoreductase core subunit S1
Reference	MIM:157655\|HGNC:HGNC:7707\|Ensembl:ENSG00000023228\|HPRD:01145\|
Gene type	protein-coding
Map location	2q33-q34
Pascal p-value	0.017
Sherlock p-value	0.443
Fetal beta	-0.962
eGene	Anterior cingulate cortex BA24 Caudate basal ganglia Cerebellar Hemisphere Cerebellum Cortex Frontal Cortex BA9 Hippocampus Nucleus accumbens basal ganglia Putamen basal ganglia Myers' cis & trans
Support	G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS G2Cdb.human_mitochondria G2Cdb.humanPSD G2Cdb.humanPSP CompositeSet

Gene in Data Sources

Gene set name	Method of gene set	Description	Info
CV:PGCnp	Genome-wide Association Study	GWAS
PMID:cooccur	High-throughput literature-search	Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IIE	Genome scan meta-analysis (European-ancestry samples)	Psr: 0.01016
GSMA_IIA	Genome scan meta-analysis (All samples)	Psr: 0.00916
Literature	High-throughput literature-search	Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenias	Click to show details

Section I. Genetics and epigenetics annotation

eQTL annotation

SNP ID	Chromosome	Position	eGene	Gene Entrez ID	pvalue	qvalue	TSS distance	eQTL type
rs10018412	chr4	188856372	NDUFS1	4719		0.15		trans
rs6435326	2	207002559	NDUFS1	ENSG00000023228.9	1.768E-7	0.01	21422	gtex_brain_ba24
rs12694039	2	206953057	NDUFS1	ENSG00000023228.9	2.867E-8	0	70924	gtex_brain_putamen_basal
rs186775337	2	206956260	NDUFS1	ENSG00000023228.9	2.019E-6	0	67721	gtex_brain_putamen_basal
rs59298213	2	206958920	NDUFS1	ENSG00000023228.9	3.533E-8	0	65061	gtex_brain_putamen_basal
rs752919	2	206959970	NDUFS1	ENSG00000023228.9	3.111E-8	0	64011	gtex_brain_putamen_basal
rs7371305	2	206964087	NDUFS1	ENSG00000023228.9	1.111E-6	0	59894	gtex_brain_putamen_basal
rs6728554	2	206965271	NDUFS1	ENSG00000023228.9	3.119E-8	0	58710	gtex_brain_putamen_basal
rs6757501	2	206965373	NDUFS1	ENSG00000023228.9	3.118E-8	0	58608	gtex_brain_putamen_basal
rs6718656	2	206965837	NDUFS1	ENSG00000023228.9	7.041E-8	0	58144	gtex_brain_putamen_basal
rs929646	2	206973305	NDUFS1	ENSG00000023228.9	3.408E-8	0	50676	gtex_brain_putamen_basal
rs4991050	2	206973801	NDUFS1	ENSG00000023228.9	3.404E-8	0	50180	gtex_brain_putamen_basal
rs10169875	2	206974952	NDUFS1	ENSG00000023228.9	3.013E-8	0	49029	gtex_brain_putamen_basal
rs34172070	2	206976068	NDUFS1	ENSG00000023228.9	2.503E-8	0	47913	gtex_brain_putamen_basal
rs35254836	2	206976204	NDUFS1	ENSG00000023228.9	1.594E-8	0	47777	gtex_brain_putamen_basal
rs201340987	2	206976229	NDUFS1	ENSG00000023228.9	6.811E-7	0	47752	gtex_brain_putamen_basal
rs56084402	2	206976230	NDUFS1	ENSG00000023228.9	2.538E-8	0	47751	gtex_brain_putamen_basal
rs888085	2	206977944	NDUFS1	ENSG00000023228.9	3.381E-8	0	46037	gtex_brain_putamen_basal
rs34133956	2	206981536	NDUFS1	ENSG00000023228.9	5.88E-8	0	42445	gtex_brain_putamen_basal
rs12694040	2	206982546	NDUFS1	ENSG00000023228.9	4.71E-8	0	41435	gtex_brain_putamen_basal
rs13024890	2	206984296	NDUFS1	ENSG00000023228.9	2.113E-6	0	39685	gtex_brain_putamen_basal
rs7590432	2	206985727	NDUFS1	ENSG00000023228.9	3.111E-8	0	38254	gtex_brain_putamen_basal
rs7590970	2	206986020	NDUFS1	ENSG00000023228.9	3.121E-8	0	37961	gtex_brain_putamen_basal
rs1564163	2	206986628	NDUFS1	ENSG00000023228.9	3.111E-8	0	37353	gtex_brain_putamen_basal
rs1053517	2	206987015	NDUFS1	ENSG00000023228.9	3.111E-8	0	36966	gtex_brain_putamen_basal
rs1044120	2	206988573	NDUFS1	ENSG00000023228.9	1.44E-6	0	35408	gtex_brain_putamen_basal
rs2045858	2	206989170	NDUFS1	ENSG00000023228.9	3.11E-8	0	34811	gtex_brain_putamen_basal
rs2359127	2	206989879	NDUFS1	ENSG00000023228.9	3.111E-8	0	34102	gtex_brain_putamen_basal
rs2884630	2	206990077	NDUFS1	ENSG00000023228.9	3.312E-8	0	33904	gtex_brain_putamen_basal
rs4147727	2	206990984	NDUFS1	ENSG00000023228.9	3.111E-8	0	32997	gtex_brain_putamen_basal
rs4147726	2	206992371	NDUFS1	ENSG00000023228.9	4.71E-8	0	31610	gtex_brain_putamen_basal
rs7597393	2	206993091	NDUFS1	ENSG00000023228.9	1.122E-8	0	30890	gtex_brain_putamen_basal
rs10190970	2	206993229	NDUFS1	ENSG00000023228.9	3.111E-8	0	30752	gtex_brain_putamen_basal
rs7558619	2	206993437	NDUFS1	ENSG00000023228.9	4.909E-8	0	30544	gtex_brain_putamen_basal
rs6435324	2	206993849	NDUFS1	ENSG00000023228.9	3.111E-8	0	30132	gtex_brain_putamen_basal
rs3770987	2	206995139	NDUFS1	ENSG00000023228.9	3.47E-8	0	28842	gtex_brain_putamen_basal
rs7585395	2	206996804	NDUFS1	ENSG00000023228.9	3.089E-8	0	27177	gtex_brain_putamen_basal
rs4147721	2	206997419	NDUFS1	ENSG00000023228.9	3.089E-8	0	26562	gtex_brain_putamen_basal
rs4147720	2	206998050	NDUFS1	ENSG00000023228.9	1.452E-7	0	25931	gtex_brain_putamen_basal
rs6730665	2	206998768	NDUFS1	ENSG00000023228.9	4.891E-8	0	25213	gtex_brain_putamen_basal
rs6744180	2	206999150	NDUFS1	ENSG00000023228.9	3.208E-8	0	24831	gtex_brain_putamen_basal
rs12464101	2	206999662	NDUFS1	ENSG00000023228.9	4.71E-8	0	24319	gtex_brain_putamen_basal
rs10166505	2	206999684	NDUFS1	ENSG00000023228.9	3.111E-8	0	24297	gtex_brain_putamen_basal
rs12620907	2	207000898	NDUFS1	ENSG00000023228.9	6.025E-8	0	23083	gtex_brain_putamen_basal
rs6435325	2	207001265	NDUFS1	ENSG00000023228.9	1.456E-8	0	22716	gtex_brain_putamen_basal
rs6435326	2	207002559	NDUFS1	ENSG00000023228.9	3.027E-7	0	21422	gtex_brain_putamen_basal
rs12476757	2	207005644	NDUFS1	ENSG00000023228.9	1.103E-6	0	18337	gtex_brain_putamen_basal
rs12476800	2	207005935	NDUFS1	ENSG00000023228.9	3.111E-8	0	18046	gtex_brain_putamen_basal
rs6435327	2	207006466	NDUFS1	ENSG00000023228.9	1.431E-7	0	17515	gtex_brain_putamen_basal
rs35409448	2	207008675	NDUFS1	ENSG00000023228.9	2.247E-7	0	15306	gtex_brain_putamen_basal
rs1127566	2	207008763	NDUFS1	ENSG00000023228.9	4.71E-8	0	15218	gtex_brain_putamen_basal
rs6435330	2	207010558	NDUFS1	ENSG00000023228.9	3.209E-8	0	13423	gtex_brain_putamen_basal
rs6758114	2	207013099	NDUFS1	ENSG00000023228.9	3.364E-8	0	10882	gtex_brain_putamen_basal
rs4147713	2	207015772	NDUFS1	ENSG00000023228.9	3.548E-8	0	8209	gtex_brain_putamen_basal
rs4147712	2	207018847	NDUFS1	ENSG00000023228.9	1.873E-7	0	5134	gtex_brain_putamen_basal
rs6435332	2	207020354	NDUFS1	ENSG00000023228.9	2.195E-7	0	3627	gtex_brain_putamen_basal
rs7589847	2	207021097	NDUFS1	ENSG00000023228.9	3.143E-7	0	2884	gtex_brain_putamen_basal
rs6741160	2	207021545	NDUFS1	ENSG00000023228.9	2.387E-7	0	2436	gtex_brain_putamen_basal
rs200320257	2	207022686	NDUFS1	ENSG00000023228.9	1.612E-7	0	1295	gtex_brain_putamen_basal
rs13015461	2	207022922	NDUFS1	ENSG00000023228.9	6.234E-7	0	1059	gtex_brain_putamen_basal
rs10178430	2	207023143	NDUFS1	ENSG00000023228.9	2.826E-7	0	838	gtex_brain_putamen_basal
rs4147711	2	207023508	NDUFS1	ENSG00000023228.9	2.929E-7	0	473	gtex_brain_putamen_basal
rs4147709	2	207023595	NDUFS1	ENSG00000023228.9	2.957E-7	0	386	gtex_brain_putamen_basal
rs4147708	2	207023620	NDUFS1	ENSG00000023228.9	2.967E-7	0	361	gtex_brain_putamen_basal
rs11689362	2	207025444	NDUFS1	ENSG00000023228.9	4.908E-7	0	-1463	gtex_brain_putamen_basal
rs3755229	2	207026471	NDUFS1	ENSG00000023228.9	4.908E-7	0	-2490	gtex_brain_putamen_basal
rs200210606	2	207027406	NDUFS1	ENSG00000023228.9	3.647E-7	0	-3425	gtex_brain_putamen_basal
rs35430253	2	207027407	NDUFS1	ENSG00000023228.9	3.647E-7	0	-3426	gtex_brain_putamen_basal
rs2058705	2	207028319	NDUFS1	ENSG00000023228.9	4.908E-7	0	-4338	gtex_brain_putamen_basal
rs11689840	2	207029378	NDUFS1	ENSG00000023228.9	3.647E-7	0	-5397	gtex_brain_putamen_basal
rs13384224	2	207029629	NDUFS1	ENSG00000023228.9	1.104E-6	0	-5648	gtex_brain_putamen_basal
rs12694043	2	207029903	NDUFS1	ENSG00000023228.9	3.647E-7	0	-5922	gtex_brain_putamen_basal
rs12991166	2	207030030	NDUFS1	ENSG00000023228.9	3.647E-7	0	-6049	gtex_brain_putamen_basal
rs7596936	2	207030285	NDUFS1	ENSG00000023228.9	4.628E-7	0	-6304	gtex_brain_putamen_basal
rs7584901	2	207030478	NDUFS1	ENSG00000023228.9	7.664E-7	0	-6497	gtex_brain_putamen_basal
rs7581298	2	207031572	NDUFS1	ENSG00000023228.9	4.908E-7	0	-7591	gtex_brain_putamen_basal
rs7558064	2	207032138	NDUFS1	ENSG00000023228.9	3.631E-7	0	-8157	gtex_brain_putamen_basal
rs12478671	2	207033835	NDUFS1	ENSG00000023228.9	3.647E-7	0	-9854	gtex_brain_putamen_basal
rs11884112	2	207035162	NDUFS1	ENSG00000023228.9	4.903E-7	0	-11181	gtex_brain_putamen_basal
rs201961244	2	207035685	NDUFS1	ENSG00000023228.9	3.624E-7	0	-11704	gtex_brain_putamen_basal
rs59621362	2	207036317	NDUFS1	ENSG00000023228.9	1.39E-7	0	-12336	gtex_brain_putamen_basal
rs75773775	2	207036440	NDUFS1	ENSG00000023228.9	1.896E-6	0	-12459	gtex_brain_putamen_basal
rs13011260	2	207038421	NDUFS1	ENSG00000023228.9	3.652E-7	0	-14440	gtex_brain_putamen_basal
rs10166836	2	207039316	NDUFS1	ENSG00000023228.9	3.647E-7	0	-15335	gtex_brain_putamen_basal
rs3732083	2	207041053	NDUFS1	ENSG00000023228.9	4.908E-7	0	-17072	gtex_brain_putamen_basal
rs13394168	2	207046803	NDUFS1	ENSG00000023228.9	1.824E-6	0	-22822	gtex_brain_putamen_basal

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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
LANCL2	0.79	0.84
TMEM66	0.77	0.81
NAP1L3	0.76	0.80
ZRANB3	0.76	0.80
ITFG1	0.75	0.78
JAZF1	0.75	0.81
AC012652.1	0.75	0.82
LRFN5	0.75	0.83
PCDHAC2	0.75	0.82
TBC1D9	0.75	0.82

Top 10 negatively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
AF347015.26	-0.55	-0.48
AF347015.2	-0.54	-0.46
MT-CO2	-0.53	-0.47
AF347015.33	-0.53	-0.46
FXYD1	-0.53	-0.44
AF347015.8	-0.52	-0.47
AF347015.21	-0.52	-0.44
AC098691.2	-0.52	-0.55
AF347015.18	-0.51	-0.51
MT-CYB	-0.50	-0.44

Section III. Gene Ontology annotation

Molecular function	GO term	Evidence	Neuro keywords	PubMed ID
GO:0003954	NADH dehydrogenase activity	IEA		-
GO:0005506	iron ion binding	IEA		-
GO:0005515	protein binding	IPI		15186778
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IMP		15824269 \|16478720 \|16870178
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS		9878551
GO:0009055	electron carrier activity	NAS		1935949
GO:0046872	metal ion binding	IEA		-
GO:0051537	2 iron, 2 sulfur cluster binding	IEA		-
GO:0051539	4 iron, 4 sulfur cluster binding	IEA		-
Biological process	GO term	Evidence	Neuro keywords	PubMed ID
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS		9878551
GO:0006810	transport	IEA		-
GO:0006800	oxygen and reactive oxygen species metabolic process	IMP		15186778 \|16478720 \|16870178
GO:0006915	apoptosis	IDA		15186778
GO:0022900	electron transport chain	IEA		-
GO:0042773	ATP synthesis coupled electron transport	IEA		-
GO:0045333	cellular respiration	IMP		15186778 \|16478720
GO:0046034	ATP metabolic process	IMP		15186778
GO:0051881	regulation of mitochondrial membrane potential	IMP		15186778 \|16478720
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0005739	mitochondrion	IEA		-
GO:0005747	mitochondrial respiratory chain complex I	IMP		16478720
GO:0005747	mitochondrial respiratory chain complex I	NAS		9878551
GO:0005758	mitochondrial intermembrane space	IDA		15186778
GO:0016020	membrane	IEA		-

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
KEGG OXIDATIVE PHOSPHORYLATION	135	73	All SZGR 2.0 genes in this pathway
KEGG ALZHEIMERS DISEASE	169	110	All SZGR 2.0 genes in this pathway
KEGG PARKINSONS DISEASE	133	78	All SZGR 2.0 genes in this pathway
KEGG HUNTINGTONS DISEASE	185	109	All SZGR 2.0 genes in this pathway
REACTOME TCA CYCLE AND RESPIRATORY ELECTRON TRANSPORT	141	85	All SZGR 2.0 genes in this pathway
REACTOME RESPIRATORY ELECTRON TRANSPORT	79	44	All SZGR 2.0 genes in this pathway
REACTOME RESPIRATORY ELECTRON TRANSPORT ATP SYNTHESIS BY CHEMIOSMOTIC COUPLING AND HEAT PRODUCTION BY UNCOUPLING PROTEINS	98	56	All SZGR 2.0 genes in this pathway
PARENT MTOR SIGNALING UP	567	375	All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA WITH LMP1 UP	408	247	All SZGR 2.0 genes in this pathway
BASAKI YBX1 TARGETS DN	384	230	All SZGR 2.0 genes in this pathway
OSMAN BLADDER CANCER UP	404	246	All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE DN	485	334	All SZGR 2.0 genes in this pathway
OUELLET OVARIAN CANCER INVASIVE VS LMP UP	117	85	All SZGR 2.0 genes in this pathway
KIM MYC AMPLIFICATION TARGETS UP	201	127	All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK	1652	1023	All SZGR 2.0 genes in this pathway
RICKMAN METASTASIS UP	344	180	All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS	775	494	All SZGR 2.0 genes in this pathway
STARK PREFRONTAL CORTEX 22Q11 DELETION DN	517	309	All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS PLASMABLAST DN	309	206	All SZGR 2.0 genes in this pathway
MOOTHA VOXPHOS	87	51	All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN	546	351	All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP	555	346	All SZGR 2.0 genes in this pathway
MCDOWELL ACUTE LUNG INJURY UP	45	29	All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY NO BLOOD DN	150	93	All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY DN	145	88	All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE DN	261	183	All SZGR 2.0 genes in this pathway
WELCSH BRCA1 TARGETS UP	198	132	All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 6	189	112	All SZGR 2.0 genes in this pathway
LEIN PONS MARKERS	89	59	All SZGR 2.0 genes in this pathway
STEIN ESRRA TARGETS UP	388	234	All SZGR 2.0 genes in this pathway
MOOTHA HUMAN MITODB 6 2002	429	260	All SZGR 2.0 genes in this pathway
MOOTHA MITOCHONDRIA	447	277	All SZGR 2.0 genes in this pathway
MELLMAN TUT1 TARGETS DN	47	29	All SZGR 2.0 genes in this pathway
STEIN ESRRA TARGETS	535	325	All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC	1103	714	All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS OLIGODENDROCYTE NUMBER CORR UP	756	494	All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS CALB1 CORR UP	548	370	All SZGR 2.0 genes in this pathway
PEDERSEN METASTASIS BY ERBB2 ISOFORM 7	403	240	All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM B	517	302	All SZGR 2.0 genes in this pathway

Gene Page: NDUFS1