Gene Page:CAPZA1

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
基因集名称 Method of gene set Description Info
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 pvalue qvalue TSS distance 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 1.207 e - cis
rs7551933 chr1 113086705 CAPZA1 829 2.362E-7 cis
rs6681371 chr1 113101167 CAPZA1 829 1.207 e - 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)

Not available

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 去的术语 Evidence Neuro keywords PubMed ID
GO:0003779 actin binding TAS 7665558
GO:0005515 protein binding 新闻学会 17353931
Biological process 去的术语 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 去的术语 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
UTR start UTR end Match method
miR-128 1073 1079 1A hsa-miR-128a UCACAGUGAACCGGUCUCUUUU
hsa-miR-128b UCACAGUGAACCGGUCUCUUUC
miR-140 633 639 1A hsa - mir - 140brain 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-214brain ACAGCAGGCACAGACAGGCAG
miR-26 628 634 1A hsa-miR-26abrain UUCAAGUAAUCCAGGAUAGGC
hsa-miR-26bSZ UUCAAGUAAUUCAGGAUAGGUU
miR-27 1073 1079 m8 hsa-miR-27abrain UUCACAGUGGCUAAGUUCCGC
hsa-miR-27bbrain UUCACAGUGGCUAAGUUCUGC
miR-30-5p 1185 1192 1A,m8 hsa-miR-30a-5p UGUAAACAUCCUCGACUGGAAG
hsa-miR-30cbrain UGUAAACAUCCUACACUCUCAGC
hsa-miR-30dSZ UGUAAACAUCCCCGACUGGAAG
hsa-miR-30bSZ UGUAAACAUCCUACACUCAGCU
hsa-miR-30e-5p UGUAAACAUCCUUGACUGGA
miR-330 501 508 1A,m8 hsa-miR-330brain GCAAAGCACACGGCCUGCAGAGA
miR-369-3p 1396 1402 m8 hsa-miR-369-3p AAUAAUACAUGGUUGAUCUUU
miR-376 1195 1201 m8 hsa-miR-376a AUCAUAGAGGAAAAUCCACGU
hsa-miR-376b AUCAUAGAGGAAAAUCCAUGUU
miR-485-5p 126 132 1A hsa-miR-485-5p AGAGGCUGGCCGUGAUGAAUUC
miR-495 1333 1339 m8 hsa-miR-495brain AAACAAACAUGGUGCACUUCUUU
miR-505 141 147 1A hsa-miR-505 GUCAACACUUGCUGGUUUCCUC
miR-7 1245 1251 m8 hsa-miR-7SZ UGGAAGACUAGUGAUUUUGUUG
miR-9 928 934 m8 hsa-miR-9SZ UCUUUGGUUAUCUAGCUGUAUGA
hsa-miR-9SZ UCUUUGGUUAUCUAGCUGUAUGA