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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for ACTN2 |
 Gene summary |
| Gene information | Gene symbol | ACTN2 | Gene ID | 88 |
| Gene name | actinin alpha 2 | |
| Synonyms | CMD1AA|CMH23|MPD6|MYOCOZ | |
| Cytomap | 1q43 | |
| Type of gene | protein-coding | |
| Description | alpha-actinin-2F-actin cross-linking proteinalpha-actinin skeletal muscle | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ACTN2 | GO:0030035 | microspike assembly | 12356918 |
| ACTN2 | GO:0043268 | positive regulation of potassium ion transport | 17110593 |
| ACTN2 | GO:1901018 | positive regulation of potassium ion transmembrane transporter activity | 17110593 |
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Gene structures and expression levels for ACTN2 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000077522
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000366578.6 | ACTN2-201:protein_coding:ACTN2 | 2.565461e+02 | -8.824074e-01 | 3.682504e-13 | 6.453786e-11 |
| CB | DOWN | ENST00000494762.1 | ACTN2-205:retained_intron:ACTN2 | 3.283943e+00 | -8.503743e-01 | 2.051967e-03 | 9.413088e-03 |
| CB | DOWN | ENST00000651781.1 | ACTN2-211:protein_coding:ACTN2 | 8.827845e+00 | -1.934225e+00 | 3.421843e-03 | 1.438145e-02 |
| TC | DOWN | ENST00000494762.1 | ACTN2-205:retained_intron:ACTN2 | 1.988683e+01 | -9.359732e-01 | 1.794523e-10 | 3.211329e-08 |
| TC | DOWN | ENST00000492634.6 | ACTN2-204:lncRNA:ACTN2 | 2.718400e+01 | -1.297521e+00 | 4.668549e-05 | 8.797082e-04 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ACTN2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_100890 | chr1 | 236734433:236734518:236737122:236737214:236739302:236739532 | 236737122:236737214 |
| exon_skip_115447 | chr1 | 236735635:236735720:236736558:236736668:236737122:236737180 | 236736558:236736668 |
| exon_skip_122088 | chr1 | 236720105:236720191:236725933:236726020:236731233:236731314 | 236725933:236726020 |
| exon_skip_12429 | chr1 | 236731250:236731314:236735635:236735720:236737122:236737180 | 236735635:236735720 |
| exon_skip_13600 | chr1 | 236731250:236731314:236734433:236734518:236735635:236735720 | 236734433:236734518 |
| exon_skip_137059 | chr1 | 236757486:236757632:236759724:236759789:236761015:236761173 | 236759724:236759789 |
| exon_skip_137604 | chr1 | 236735635:236735720:236737122:236737214:236739302:236739532 | 236737122:236737214 |
| exon_skip_186757 | chr1 | 236731250:236731314:236737122:236737214:236739302:236739532 | 236737122:236737214 |
| exon_skip_190494 | chr1 | 236731250:236731314:236734433:236734518:236739302:236739532 | 236734433:236734518 |
| exon_skip_195601 | chr1 | 236731233:236731314:236735635:236735720:236737122:236737214 | 236735635:236735720 |
| exon_skip_200655 | chr1 | 236734433:236734518:236737122:236737214:236739302:236739333 | 236737122:236737214 |
| exon_skip_205049 | chr1 | 236735635:236735720:236736558:236736668:236737122:236737161 | 236736558:236736668 |
| exon_skip_210351 | chr1 | 236731233:236731314:236734433:236734518:236737122:236737161 | 236734433:236734518 |
| exon_skip_266086 | chr1 | 236731233:236731314:236734433:236734518:236737122:236737214 | 236734433:236734518 |
| exon_skip_2679 | chr1 | 236725933:236726020:236727678:236727756:236731233:236731314 | 236727678:236727756 |
| exon_skip_285818 | chr1 | 236731250:236731314:236734433:236734518:236737122:236737180 | 236734433:236734518 |
| exon_skip_38727 | chr1 | 236734433:236734518:236737122:236737214:236739302:236739361 | 236737122:236737214 |
| exon_skip_59366 | chr1 | 236731233:236731314:236735635:236735720:236737122:236737161 | 236735635:236735720 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for ACTN2 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000366578 | 236727678 | 236727756 | Frame-shift |
| ENST00000366578 | 236735635 | 236735720 | Frame-shift |
| ENST00000366578 | 236737122 | 236737214 | In-frame |
| ENST00000366578 | 236759724 | 236759789 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000366578 | 236727678 | 236727756 | Frame-shift |
| ENST00000366578 | 236735635 | 236735720 | Frame-shift |
| ENST00000366578 | 236737122 | 236737214 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000366578 | 236727678 | 236727756 | Frame-shift |
| ENST00000366578 | 236735635 | 236735720 | Frame-shift |
| ENST00000366578 | 236737122 | 236737214 | In-frame |
| ENST00000366578 | 236759724 | 236759789 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ACTN2 |
p-ENSG00000077522_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000366578 | 4880 | 894 | 236737122 | 236737214 | 951 | 1042 | 261 | 292 |
| ENST00000366578 | 4880 | 894 | 236759724 | 236759789 | 2469 | 2533 | 767 | 789 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000366578 | 4880 | 894 | 236737122 | 236737214 | 951 | 1042 | 261 | 292 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000366578 | 4880 | 894 | 236737122 | 236737214 | 951 | 1042 | 261 | 292 |
| ENST00000366578 | 4880 | 894 | 236759724 | 236759789 | 2469 | 2533 | 767 | 789 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P35609 | 261 | 292 | 234 | 261 | Alternative sequence | ID=VSP_054923;Note=In isoform 2. IVNTPKPDERAIMTYVSCFYHAFAGAEQ->LVYTARPDERAIMTYVSCYYHAFAGAQK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P35609 | 261 | 292 | 1 | 894 | Chain | ID=PRO_0000073435;Note=Alpha-actinin-2 |
| P35609 | 261 | 292 | 275 | 294 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCI |
| P35609 | 261 | 292 | 281 | 391 | Repeat | Note=Spectrin 1 |
| P35609 | 767 | 789 | 767 | 770 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4D1E |
| P35609 | 767 | 789 | 766 | 777 | Calcium binding | Note=1%3B possibly ancestral |
| P35609 | 767 | 789 | 1 | 894 | Chain | ID=PRO_0000073435;Note=Alpha-actinin-2 |
| P35609 | 767 | 789 | 753 | 788 | Domain | Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| P35609 | 767 | 789 | 789 | 824 | Domain | Note=EF-hand 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| P35609 | 767 | 789 | 777 | 784 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4D1E |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P35609 | 261 | 292 | 234 | 261 | Alternative sequence | ID=VSP_054923;Note=In isoform 2. IVNTPKPDERAIMTYVSCFYHAFAGAEQ->LVYTARPDERAIMTYVSCYYHAFAGAQK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P35609 | 261 | 292 | 1 | 894 | Chain | ID=PRO_0000073435;Note=Alpha-actinin-2 |
| P35609 | 261 | 292 | 275 | 294 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCI |
| P35609 | 261 | 292 | 281 | 391 | Repeat | Note=Spectrin 1 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P35609 | 261 | 292 | 234 | 261 | Alternative sequence | ID=VSP_054923;Note=In isoform 2. IVNTPKPDERAIMTYVSCFYHAFAGAEQ->LVYTARPDERAIMTYVSCYYHAFAGAQK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P35609 | 261 | 292 | 1 | 894 | Chain | ID=PRO_0000073435;Note=Alpha-actinin-2 |
| P35609 | 261 | 292 | 275 | 294 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1HCI |
| P35609 | 261 | 292 | 281 | 391 | Repeat | Note=Spectrin 1 |
| P35609 | 767 | 789 | 767 | 770 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4D1E |
| P35609 | 767 | 789 | 766 | 777 | Calcium binding | Note=1%3B possibly ancestral |
| P35609 | 767 | 789 | 1 | 894 | Chain | ID=PRO_0000073435;Note=Alpha-actinin-2 |
| P35609 | 767 | 789 | 753 | 788 | Domain | Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| P35609 | 767 | 789 | 789 | 824 | Domain | Note=EF-hand 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| P35609 | 767 | 789 | 777 | 784 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4D1E |
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3'-UTR located exon skipping events that lost miRNA binding sites in ACTN2 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for ACTN2 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for ACTN2 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACTN2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ACTN2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| TC | G3BP2 | exon_skip_2679 | 5.897277e-01 | 2.200453e-14 |
| TC | NUP42 | exon_skip_2679 | 4.998916e-01 | 3.723745e-10 |
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RelatedDrugs for ACTN2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ACTN2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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