SZGR2

Summary ?

GeneID	26278
Symbol	SACS
Synonyms	ARSACS\|DNAJC29\|PPP1R138\|SPAX6
Description	sacsin molecular chaperone
Reference	MIM:604490\|HGNC:HGNC:10519\|Ensembl:ENSG00000151835\|HPRD:05135\|Vega:OTTHUMG00000016562
Gene type	protein-coding
Map location	13q12
Pascal p-value	0.002
eGene	Cerebellar Hemisphere Myers' cis & trans
Support	RNA AND PROTEIN SYNTHESIS

Gene in Data Sources

Gene set name	Method of gene set	Description	Info
CV:PGCnp	Genome-wide Association Study	GWAS
Network	Shortest path distance of core genes in the Human protein-protein interaction network	Contribution to shortest path in PPI network: 0.0333

Section I. Genetics and epigenetics annotation

eQTL annotation

SNP ID	Chromosome	Position	eGene	Gene Entrez ID	qvalue	eQTL type
rs1341306	chr1	18564668	SACS	26278	0.07	trans
rs823066	chr1	205771172	SACS	26278	0.03	trans
rs9882137	chr3	29494146	SACS	26278	0	trans
rs9882501	chr3	29494429	SACS	26278	0.08	trans
rs4491879	chr3	189373908	SACS	26278	0.14	trans
rs4505678	chr3	189374356	SACS	26278	0.11	trans
snp_a-2169623		0	SACS	26278	0.07	trans
rs9257144	chr6	28729980	SACS	26278	0.09	trans
rs16894557	chr6	28999825	SACS	26278	0.04	trans
rs4947631	chr7	50603378	SACS	26278	0.04	trans
rs17139868	chr7	117079228	SACS	26278	0.15	trans
rs1800130	chr7	117282643	SACS	26278	0.15	trans
rs2195588	chr8	40356699	SACS	26278	0.07	trans
rs16908892	chr9	122499151	SACS	26278	0.15	trans
rs12554113	chr9	122523558	SACS	26278	0.18	trans
rs917836	chr18	20053367	SACS	26278	0.09	trans
rs1503026	chr18	70842605	SACS	26278	0.05	trans
rs12326929	chr18	70864592	SACS	26278	0.01	trans
rs12327665	chr19	39622639	SACS	26278	0.11	trans
rs6040607	chr20	11371092	SACS	26278	0.08	trans

Section II. Transcriptome annotation

General gene expression (GTEx)

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:0003674	molecular_function	ND		-
GO:0005524	ATP binding	IEA		-
GO:0031072	heat shock protein binding	IEA		-
Biological process	GO term	Evidence	Neuro keywords	PubMed ID
GO:0006457	protein folding	NAS		10655055
GO:0006464	protein modification process	IEA		-
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0005575	cellular_component	ND		-

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
ONKEN UVEAL MELANOMA UP	783	507	All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL DN	460	312	All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA DN	1375	806	All SZGR 2.0 genes in this pathway
COLDREN GEFITINIB RESISTANCE UP	85	57	All SZGR 2.0 genes in this pathway
HAMAI APOPTOSIS VIA TRAIL UP	584	356	All SZGR 2.0 genes in this pathway
KAN RESPONSE TO ARSENIC TRIOXIDE	123	80	All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN	855	609	All SZGR 2.0 genes in this pathway
KIM MYC AMPLIFICATION TARGETS UP	201	127	All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN UP	479	299	All SZGR 2.0 genes in this pathway
WU CELL MIGRATION	184	114	All SZGR 2.0 genes in this pathway
MANALO HYPOXIA DN	289	166	All SZGR 2.0 genes in this pathway
VANTVEER BREAST CANCER METASTASIS DN	121	65	All SZGR 2.0 genes in this pathway
PENG GLUTAMINE DEPRIVATION DN	337	230	All SZGR 2.0 genes in this pathway
LI WILMS TUMOR VS FETAL KIDNEY 1 DN	163	115	All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN	1237	837	All SZGR 2.0 genes in this pathway
WANG SMARCE1 TARGETS DN	371	218	All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV SCC DN	123	86	All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 8HR DN	47	31	All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV NHEK DN	318	220	All SZGR 2.0 genes in this pathway
MARTINEZ RESPONSE TO TRABECTEDIN DN	271	175	All SZGR 2.0 genes in this pathway
BILD SRC ONCOGENIC SIGNATURE	62	38	All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR DN	911	527	All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR DN	1011	592	All SZGR 2.0 genes in this pathway
STEIN ESRRA TARGETS RESPONSIVE TO ESTROGEN DN	41	26	All SZGR 2.0 genes in this pathway
BONOME OVARIAN CANCER SURVIVAL OPTIMAL DEBULKING	246	152	All SZGR 2.0 genes in this pathway
TOYOTA TARGETS OF MIR34B AND MIR34C	463	262	All SZGR 2.0 genes in this pathway
CHEOK RESPONSE TO MERCAPTOPURINE AND HD MTX DN	25	18	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
MIKKELSEN MCV6 ICP WITH H3K27ME3	74	46	All SZGR 2.0 genes in this pathway
MIKKELSEN MEF ICP WITH H3K4ME3 AND H3K27ME3	38	34	All SZGR 2.0 genes in this pathway
STEIN ESR1 TARGETS	85	55	All SZGR 2.0 genes in this pathway
MIKKELSEN ES ICP WITH H3K4ME3	718	401	All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 DN	918	550	All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS DN	882	538	All SZGR 2.0 genes in this pathway
PEDERSEN METASTASIS BY ERBB2 ISOFORM 6	29	20	All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY	1725	838	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-103/107	863	869	1A	hsa-miR-103^brain	AGCAGCAUUGUACAGGGCUAUGA
miR-103/107	863	869	1A	hsa-miR-107^brain	AGCAGCAUUGUACAGGGCUAUCA
miR-142-5p	264	271	1A,m8	hsa-miR-142-5p	CAUAAAGUAGAAAGCACUAC
miR-17-5p/20/93.mr/106/519.d	262	269	1A,m8	hsa-miR-17-5p	CAAAGUGCUUACAGUGCAGGUAGU
				hsa-miR-20a^brain	UAAAGUGCUUAUAGUGCAGGUAG
				hsa-miR-106a	AAAAGUGCUUACAGUGCAGGUAGC
				hsa-miR-106b^SZ	UAAAGUGCUGACAGUGCAGAU
				hsa-miR-20b^SZ	CAAAGUGCUCAUAGUGCAGGUAG
				hsa-miR-519d	CAAAGUGCCUCCCUUUAGAGUGU
miR-183	1269	1276	1A,m8	hsa-miR-183	UAUGGCACUGGUAGAAUUCACUG
miR-199	377	384	1A,m8	hsa-miR-199a	CCCAGUGUUCAGACUACCUGUUC
miR-199	377	384	1A,m8	hsa-miR-199b	CCCAGUGUUUAGACUAUCUGUUC
miR-218	100	106	m8	hsa-miR-218^brain	UUGUGCUUGAUCUAACCAUGU
miR-223	1010	1017	1A,m8	hsa-miR-223	UGUCAGUUUGUCAAAUACCCC
miR-23	1232	1238	1A	hsa-miR-23a^brain	AUCACAUUGCCAGGGAUUUCC
miR-23	1232	1238	1A	hsa-miR-23b^brain	AUCACAUUGCCAGGGAUUACC
miR-26	556	562	m8	hsa-miR-26a^brain	UUCAAGUAAUCCAGGAUAGGC
miR-26	556	562	m8	hsa-miR-26b^SZ	UUCAAGUAAUUCAGGAUAGGUU
miR-324-5p	837	843	1A	hsa-miR-324-5p	CGCAUCCCCUAGGGCAUUGGUGU
miR-543	1198	1204	m8	hsa-miR-543	AAACAUUCGCGGUGCACUUCU
miR-9	274	280	m8	hsa-miR-9^SZ	UCUUUGGUUAUCUAGCUGUAUGA

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: SACS