基因Page:ACTA2

Summary?
基因ID 59
Symbol ACTA2
Synonyms AAT6|ACTSA|MYMY5
Description actin, alpha 2, smooth muscle, aorta
Reference MIM:102620|HGNC:HGNC:130|Ensembl:ENSG00000107796|HPRD:00031|Vega:OTTHUMG00000018700
基因type protein-coding
Map location 10q23.3
Pascal p-value 0.648
Sherlock p-value 0.598
TADA p-value 0.01
Fetal beta -2.253
DMG 1 (# studies)
eGene Myers' cis & trans
Support CompositeSet

基因in Data Sources
基因set name 基因的方法设置 Description Info
CV:PGCnp Genome-wide Association Study GWAS
DMG:Jaffe_2016 Genome-wide DNA methylation analysis This dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 1
DNM:Fromer_2014 Whole Exome Sequencing analysis This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.

Section I. Genetics and epigenetics annotation

@DNM table

基因 Chromosome Position Ref Alt Transcript AA change Mutation type Sift CG46 Trait Study
ACTA2 chr10 90695012 C T NM_001141945
NM_001613		 p.368G>R
p.368G>R		 missense
missense		 Schizophrenia DNM:Fromer_2014

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg03387256 10 90750898 ACTA2 1.2E-9 -0.009 1.28E-6 DMG:Jaffe_2016

@eQTL annotation

SNP ID Chromosome Position eGene 基因Entrez ID pvalue qvalue TSS distance eQTL type
rs17126738 chr1 103045654 ACTA2 59 0.09 trans
rs13191618 chr6 46733068 ACTA2 59 0.18 trans
rs4496986 chr8 6079742 ACTA2 59 0.2 trans
rs11002508 chr10 80099525 ACTA2 59 0.19 trans
rs1018336 chr11 20744315 ACTA2 59 0.1 trans
rs11231308 chr11 62788268 ACTA2 59 0.04 trans
rs7145468 chr14 75923649 ACTA2 59 0.06 trans
rs7254919 chr19 33219998 ACTA2 59 0 trans
rs2868186 chr19 33245877 ACTA2 59 0.03 trans
rs877910 chr21 36658376 ACTA2 59 0.14 trans

Section II. Transcriptome annotation

基因ral gene expression (GTEx)

Not available

基因expression during devlopment (BrainCloud)

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

基因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 V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG VASCULAR SMOOTH MUSCLE CONTRACTION 115 81 All SZGR 2.0 genes in this pathway
PID PDGFRB PATHWAY 129 103 All SZGR 2.0 genes in this pathway
REACTOME MUSCLE CONTRACTION 48 24 All SZGR 2.0 genes in this pathway
REACTOME SMOOTH MUSCLE CONTRACTION 25 14 All SZGR 2.0 genes in this pathway
PICCALUGA ANGIOIMMUNOBLASTIC LYMPHOMA UP 205 140 All SZGR 2.0 genes in this pathway
LIU PROSTATE CANCER DN 481 290 All SZGR 2.0 genes in this pathway
BERTUCCI MEDULLARY VS DUCTAL BREAST CANCER DN 169 118 All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA UP 294 178 All SZGR 2.0 genes in this pathway
TURASHVILI BREAST DUCTAL CARCINOMA VS DUCTAL NORMAL DN 198 110 All SZGR 2.0 genes in this pathway
TURASHVILI BREAST DUCTAL CARCINOMA VS LOBULAR NORMAL DN 69 43 All SZGR 2.0 genes in this pathway
TURASHVILI BREAST LOBULAR CARCINOMA VS DUCTAL NORMAL DN 91 53 All SZGR 2.0 genes in this pathway
TURASHVILI BREAST LOBULAR CARCINOMA VS LOBULAR NORMAL UP 94 59 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
HORIUCHI WTAP TARGETS UP 306 188 All SZGR 2.0 genes in this pathway
WANG LMO4 TARGETS DN 352 225 All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION HSC UP 185 126 All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA DN 1375 806 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805 505 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC DN 537 339 All SZGR 2.0 genes in this pathway
BERENJENO ROCK SIGNALING NOT VIA RHOA DN 48 34 All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST TUMORS 65 DN 37 22 All SZGR 2.0 genes in this pathway
CONCANNON APOPTOSIS BY EPOXOMICIN UP 239 157 All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS G UP 238 135 All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST TUMORS 324 DN 149 93 All SZGR 2.0 genes in this pathway
KERLEY RESPONSE TO CISPLATIN UP 44 30 All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 4 5WK UP 271 175 All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 6 7WK DN 79 54 All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL TGFB1 TARGETS UP 169 127 All SZGR 2.0 genes in this pathway
DARWICHE SKIN TUMOR PROMOTER UP 142 96 All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK LOW DN 165 107 All SZGR 2.0 genes in this pathway
DARWICHE PAPILLOMA RISK HIGH DN 180 110 All SZGR 2.0 genes in this pathway
DARWICHE SQUAMOUS CELL CARCINOMA DN 181 107 All SZGR 2.0 genes in this pathway
ABDULRAHMAN KIDNEY CANCER VHL DN 14 9 All SZGR 2.0 genes in this pathway
EBAUER TARGETS OF PAX3 FOXO1 FUSION UP 207 128 All SZGR 2.0 genes in this pathway
RASHI RESPONSE TO IONIZING RADIATION 2 127 92 All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 2B 392 251 All SZGR 2.0 genes in this pathway
EBAUER MYOGENIC TARGETS OF PAX3 FOXO1 FUSION 50 26 All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN UP 479 299 All SZGR 2.0 genes in this pathway
MANTOVANI VIRAL GPCR SIGNALING UP 86 54 All SZGR 2.0 genes in this pathway
GOTZMANN EPITHELIAL TO MESENCHYMAL TRANSITION UP 69 55 All SZGR 2.0 genes in this pathway
PETRETTO CARDIAC HYPERTROPHY 34 26 All SZGR 2.0 genes in this pathway
ONDER CDH1 TARGETS 2 UP 256 159 All SZGR 2.0 genes in this pathway
ONDER CDH1 SIGNALING VIA CTNNB1 83 58 All SZGR 2.0 genes in this pathway
LEI HOXC8 TARGETS DN 17 13 All SZGR 2.0 genes in this pathway
KANNAN TP53 TARGETS UP 58 40 All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS PLASMABLAST DN 309 206 All SZGR 2.0 genes in this pathway
OKUMURA INFLAMMATORY RESPONSE LPS 183 115 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
LEI MYB TARGETS 318 215 All SZGR 2.0 genes in this pathway
GERY CEBP TARGETS 126 90 All SZGR 2.0 genes in this pathway
PETROVA ENDOTHELIUM LYMPHATIC VS BLOOD DN 162 102 All SZGR 2.0 genes in this pathway
MOREAUX MULTIPLE MYELOMA BY TACI UP 412 249 All SZGR 2.0 genes in this pathway
IGLESIAS E2F TARGETS UP 151 103 All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS MATURE CELL 293 160 All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE UP 249 170 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 24HR DN 148 102 All SZGR 2.0 genes in this pathway
APRELIKOVA BRCA1 TARGETS 49 33 All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 8 86 57 All SZGR 2.0 genes in this pathway
ZHU CMV 24 HR DN 91 64 All SZGR 2.0 genes in this pathway
WELCSH BRCA1 TARGETS UP 198 132 All SZGR 2.0 genes in this pathway
ZHU CMV ALL DN 128 93 All SZGR 2.0 genes in this pathway
KEEN RESPONSE TO ROSIGLITAZONE DN 106 68 All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS PEAK AT 0HR 63 48 All SZGR 2.0 genes in this pathway
NIELSEN LEIOMYOSARCOMA CNN1 UP 19 13 All SZGR 2.0 genes in this pathway
WANG SMARCE1 TARGETS UP 280 183 All SZGR 2.0 genes in this pathway
MARCHINI TRABECTEDIN RESISTANCE DN 49 34 All SZGR 2.0 genes in this pathway
DOUGLAS BMI1 TARGETS DN 314 188 All SZGR 2.0 genes in this pathway
ZHONG SECRETOME OF LUNG CANCER AND FIBROBLAST 132 93 All SZGR 2.0 genes in this pathway
IWANAGA CARCINOGENESIS BY KRAS PTEN UP 181 112 All SZGR 2.0 genes in this pathway
FUJII YBX1 TARGETS UP 43 28 All SZGR 2.0 genes in this pathway
NADELLA PRKAR1A TARGETS DN 8 8 All SZGR 2.0 genes in this pathway
SMID BREAST CANCER NORMAL LIKE UP 476 285 All SZGR 2.0 genes in this pathway
SCHRAETS MLL TARGETS UP 35 21 All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS DN 435 289 All SZGR 2.0 genes in this pathway
CROONQUIST STROMAL STIMULATION UP 60 42 All SZGR 2.0 genes in this pathway
CROONQUIST NRAS VS STROMAL STIMULATION DN 99 65 All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 ICP WITH H3K4ME3 AND H3K27ME3 34 21 All SZGR 2.0 genes in this pathway
NAKAYAMA FGF2 TARGETS 29 17 All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S1 237 159 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
LI INDUCED T TO NATURAL KILLER DN 116 83 All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS CONFLUENT 567 365 All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP A 898 516 All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137 655 All SZGR 2.0 genes in this pathway
PASINI SUZ12 TARGETS DN 315 215 All SZGR 2.0 genes in this pathway
PURBEY CTBP1没有SATB1的目标 344 215 All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL DN 308 187 All SZGR 2.0 genes in this pathway
ANASTASSIOU CANCER MESENCHYMAL TRANSITION SIGNATURE 64 40 All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL UP 489 314 All SZGR 2.0 genes in this pathway
SMIRNOV RESPONSE TO IR 6HR UP 166 97 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
ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY 1839 928 All SZGR 2.0 genes in this pathway