Gene Page: ACTN3
Summary ?
| GeneID | 89 |
| Symbol | ACTN3 |
| Synonyms | - |
| Description | actinin alpha 3 (gene/pseudogene) |
| Reference | MIM:102574|HGNC:HGNC:165|Ensembl:ENSG00000248746|HPRD:02148|Vega:OTTHUMG00000160815 |
| Gene type | protein-coding |
| Map location | 11q13.1 |
| Pascal p-value | 0.003 |
| eGene | Myers' cis & trans |
| Support | G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS G2Cdb.humanNRC |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS |
Section I. Genetics and epigenetics annotation
eQTL annotation
| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs2190759 | chr17 | 55794698 | ACTN3 | 89 | 0.1 | 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.
Top co-expressed genes in brain regions
| Top 10 positively co-expressed genes | ||
| Gene | Pearson's Correlation | Spearman's Correlation |
| ZNF512 | 0.91 | 0.94 |
| CASK | 0.91 | 0.93 |
| XPO5 | 0.91 | 0.93 |
| CDC42EP3 | 0.90 | 0.94 |
| KDM4A | 0.90 | 0.92 |
| WDR82 | 0.90 | 0.93 |
| HSDL1 | 0.90 | 0.93 |
| ZNF45 | 0.90 | 0.92 |
| ZC4H2 | 0.90 | 0.93 |
| ANKRD50 | 0.90 | 0.93 |
| Top 10 negatively co-expressed genes | ||
| Gene | Pearson's Correlation | Spearman's Correlation |
| HLA-F | -0.77 | -0.84 |
| AIFM3 | -0.76 | -0.82 |
| S100B | -0.76 | -0.87 |
| MT-CO2 | -0.75 | -0.92 |
| AF347015.31 | -0.75 | -0.90 |
| AF347015.27 | -0.75 | -0.90 |
| AF347015.33 | -0.75 | -0.90 |
| FXYD1 | -0.75 | -0.90 |
| TSC22D4 | -0.74 | -0.83 |
| MT-CYB | -0.73 | -0.89 |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| KEGG FOCAL ADHESION | 201 | 138 | All SZGR 2.0 genes in this pathway |
| KEGG ADHERENS JUNCTION | 75 | 53 | All SZGR 2.0 genes in this pathway |
| KEGG TIGHT JUNCTION | 134 | 86 | All SZGR 2.0 genes in this pathway |
| KEGG LEUKOCYTE TRANSENDOTHELIAL MIGRATION | 118 | 78 | All SZGR 2.0 genes in this pathway |
| KEGG REGULATION OF ACTIN CYTOSKELETON | 216 | 144 | All SZGR 2.0 genes in this pathway |
| KEGG SYSTEMIC LUPUS ERYTHEMATOSUS | 140 | 100 | All SZGR 2.0 genes in this pathway |
| KEGG ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY ARVC | 76 | 59 | All SZGR 2.0 genes in this pathway |
| BIOCARTA CELL2CELL PATHWAY | 14 | 11 | All SZGR 2.0 genes in this pathway |
| BIOCARTA INTEGRIN PATHWAY | 38 | 29 | All SZGR 2.0 genes in this pathway |
| BIOCARTA UCALPAIN PATHWAY | 18 | 11 | All SZGR 2.0 genes in this pathway |
| GAUSSMANN MLL AF4 FUSION TARGETS C UP | 170 | 114 | All SZGR 2.0 genes in this pathway |
| HUMMERICH BENIGN SKIN TUMOR DN | 18 | 7 | All SZGR 2.0 genes in this pathway |
| BENPORATH ES 1 | 379 | 235 | All SZGR 2.0 genes in this pathway |
| NIKOLSKY BREAST CANCER 11Q12 Q14 AMPLICON | 158 | 93 | All SZGR 2.0 genes in this pathway |
| KUNINGER IGF1 VS PDGFB TARGETS UP | 82 | 51 | All SZGR 2.0 genes in this pathway |
| MARTINEZ RB1 TARGETS UP | 673 | 430 | All SZGR 2.0 genes in this pathway |
| MARTINEZ TP53 TARGETS DN | 593 | 372 | All SZGR 2.0 genes in this pathway |
| MARTINEZ RB1 AND TP53 TARGETS UP | 601 | 369 | All SZGR 2.0 genes in this pathway |
| DAIRKEE CANCER PRONE RESPONSE BPA E2 | 118 | 65 | All SZGR 2.0 genes in this pathway |
| MIKKELSEN ES ICP WITH H3K4ME3 | 718 | 401 | All SZGR 2.0 genes in this pathway |
| MIKKELSEN NPC ICP WITH H3K4ME3 | 445 | 257 | All SZGR 2.0 genes in this pathway |
| TSUTSUMI FBXW8 TARGETS | 9 | 5 | 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 |
| CHEMELLO SOLEUS VS EDL MYOFIBERS DN | 19 | 10 | All SZGR 2.0 genes in this pathway |