SZGR2

Summary ?

GeneID	829
Symbol	CAPZA1
Synonyms	CAPPA1\|CAPZ\|CAZ1
Description	capping actin protein of muscle Z-line alpha subunit 1
Reference	MIM:601580\|HGNC:HGNC:1488\|Ensembl:ENSG00000116489\|HPRD:03347\|Vega:OTTHUMG00000011769
Gene type	protein-coding
Map location	1p13.2
Pascal p-value	1.155E-4
Sherlock p-value	0.55
Fetal beta	0.154
eGene	Cerebellum Myers' cis & trans Meta
Support	G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS CompositeSet

Gene in Data Sources

Gene set name	Method of gene set	Description
CV:PGCnp	Genome-wide Association Study	GWAS
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: 0.0235

Section I. Genetics and epigenetics annotation

DNM table

Gene	Chromosome	Position	Ref	Alt	Transcript	AA change	Mutation type	Sift	CG46	Trait	Study
CAPZA1	chr1	113209767	G	A	NM_006135 NM_006135	. .	silent splice			Schizophrenia	DNM:Fromer_2014

eQTL annotation

SNP ID	Chromosome	Position	eGene	Gene Entrez ID	qvalue	eQTL type
rs1759687	chr1	112951818	CAPZA1	829	0.05	cis
rs1175630	chr1	112953340	CAPZA1	829	0.09	cis
rs1175645	chr1	112981411	CAPZA1	829	0.1	cis
rs910697	chr1	113063124	CAPZA1	829	0.04	cis
rs12401734	chr1	113071833	CAPZA1	829	1.207E-7	cis
rs7551933	chr1	113086705	CAPZA1	829	2.362E-7	cis
rs6681371	chr1	113101167	CAPZA1	829	1.207E-7	cis
rs12406906	chr1	113117899	CAPZA1	829	1.126E-7	cis
rs6666579	chr1	113132392	CAPZA1	829	0.14	cis
rs2932537	chr1	113230393	CAPZA1	829	0	cis
rs12401734	chr1	113071833	CAPZA1	829	2.646E-5	trans
rs7551933	chr1	113086705	CAPZA1	829	4.955E-5	trans
rs6681371	chr1	113101167	CAPZA1	829	2.646E-5	trans
rs12406906	chr1	113117899	CAPZA1	829	2.444E-5	trans
rs2932537	chr1	113230393	CAPZA1	829	0.19	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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
GARS	0.91	0.88
PPP5C	0.88	0.84
HARS	0.87	0.82
SEC61A2	0.86	0.82
PPP2R5D	0.86	0.81
PSMD7	0.86	0.83
VDAC3	0.86	0.84
C14orf153	0.85	0.84
RAP1GDS1	0.84	0.82
PSMD1	0.84	0.83

Top 10 negatively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
AF347015.2	-0.76	-0.69
AF347015.33	-0.75	-0.67
AF347015.31	-0.75	-0.67
AF347015.8	-0.75	-0.66
MT-CO2	-0.75	-0.65
AF347015.21	-0.74	-0.64
AF347015.27	-0.73	-0.67
MT-CYB	-0.72	-0.64
AF347015.15	-0.71	-0.64
AF347015.26	-0.71	-0.64

Section III. Gene Ontology annotation

Molecular function	GO term	Evidence	Neuro keywords	PubMed ID
GO:0003779	actin binding	TAS		7665558
GO:0005515	protein binding	IPI		17353931
Biological process	GO term	Evidence	Neuro keywords	PubMed ID
GO:0006461	protein complex assembly	TAS		9331217
GO:0006928	cell motion	TAS		16130169
GO:0030036	actin cytoskeleton organization	IEA		-
GO:0051016	barbed-end actin filament capping	IEA		-
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0008290	F-actin capping protein complex	TAS		9331217

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
REACTOME FACTORS INVOLVED IN MEGAKARYOCYTE DEVELOPMENT AND PLATELET PRODUCTION	132	101	All SZGR 2.0 genes in this pathway
REACTOME ADVANCED GLYCOSYLATION ENDPRODUCT RECEPTOR SIGNALING	13	11	All SZGR 2.0 genes in this pathway
REACTOME HEMOSTASIS	466	331	All SZGR 2.0 genes in this pathway
REACTOME INNATE IMMUNE SYSTEM	279	178	All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM	933	616	All SZGR 2.0 genes in this pathway
LAIHO COLORECTAL CANCER SERRATED UP	112	71	All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN	1781	1082	All SZGR 2.0 genes in this pathway
SEIDEN ONCOGENESIS BY MET	88	53	All SZGR 2.0 genes in this pathway
SCHLOSSER SERUM RESPONSE DN	712	443	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
BENPORATH MYC MAX TARGETS	775	494	All SZGR 2.0 genes in this pathway
PENG GLUCOSE DEPRIVATION DN	169	112	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
KEEN RESPONSE TO ROSIGLITAZONE DN	106	68	All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL TUMOR UP	294	199	All SZGR 2.0 genes in this pathway
WANG TUMOR INVASIVENESS UP	374	247	All SZGR 2.0 genes in this pathway
HSIAO HOUSEKEEPING GENES	389	245	All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S1	237	159	All SZGR 2.0 genes in this pathway
KYNG WERNER SYNDROM AND NORMAL AGING DN	225	124	All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC	1103	714	All SZGR 2.0 genes in this pathway
KYNG RESPONSE TO H2O2 VIA ERCC6 UP	40	30	All SZGR 2.0 genes in this pathway
SASSON RESPONSE TO GONADOTROPHINS DN	87	66	All SZGR 2.0 genes in this pathway
SASSON RESPONSE TO FORSKOLIN DN	88	68	All SZGR 2.0 genes in this pathway
KRIEG KDM3A TARGETS NOT HYPOXIA	208	107	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-128	1073	1079	1A	hsa-miR-128a	UCACAGUGAACCGGUCUCUUUU
miR-128	1073	1079	1A	hsa-miR-128b	UCACAGUGAACCGGUCUCUUUC
miR-140	633	639	1A	hsa-miR-140^brain	AGUGGUUUUACCCUAUGGUAG
miR-144	137	143	m8	hsa-miR-144	UACAGUAUAGAUGAUGUACUAG
miR-186	165	171	m8	hsa-miR-186	CAAAGAAUUCUCCUUUUGGGCUU
miR-205	823	829	1A	hsa-miR-205	UCCUUCAUUCCACCGGAGUCUG
miR-214	773	779	1A	hsa-miR-214^brain	ACAGCAGGCACAGACAGGCAG
miR-26	628	634	1A	hsa-miR-26a^brain	UUCAAGUAAUCCAGGAUAGGC
miR-26	628	634	1A	hsa-miR-26b^SZ	UUCAAGUAAUUCAGGAUAGGUU
miR-27	1073	1079	m8	hsa-miR-27a^brain	UUCACAGUGGCUAAGUUCCGC
miR-27	1073	1079	m8	hsa-miR-27b^brain	UUCACAGUGGCUAAGUUCUGC
miR-30-5p	1185	1192	1A,m8	hsa-miR-30a-5p	UGUAAACAUCCUCGACUGGAAG
				hsa-miR-30c^brain	UGUAAACAUCCUACACUCUCAGC
				hsa-miR-30d^SZ	UGUAAACAUCCCCGACUGGAAG
				hsa-miR-30b^SZ	UGUAAACAUCCUACACUCAGCU
				hsa-miR-30e-5p	UGUAAACAUCCUUGACUGGA
miR-330	501	508	1A,m8	hsa-miR-330^brain	GCAAAGCACACGGCCUGCAGAGA
miR-369-3p	1396	1402	m8	hsa-miR-369-3p	AAUAAUACAUGGUUGAUCUUU
miR-376	1195	1201	m8	hsa-miR-376a	AUCAUAGAGGAAAAUCCACGU
miR-376	1195	1201	m8	hsa-miR-376b	AUCAUAGAGGAAAAUCCAUGUU
miR-485-5p	126	132	1A	hsa-miR-485-5p	AGAGGCUGGCCGUGAUGAAUUC
miR-495	1333	1339	m8	hsa-miR-495^brain	AAACAAACAUGGUGCACUUCUUU
miR-505	141	147	1A	hsa-miR-505	GUCAACACUUGCUGGUUUCCUC
miR-7	1245	1251	m8	hsa-miR-7^SZ	UGGAAGACUAGUGAUUUUGUUG
miR-9	928	934	m8	hsa-miR-9^SZ	UCUUUGGUUAUCUAGCUGUAUGA
miR-9	928	934	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: CAPZA1