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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 ACTN1 |
 Gene summary |
| Gene information | Gene symbol | ACTN1 | Gene ID | 87 |
| Gene name | actinin alpha 1 | |
| Synonyms | BDPLT15 | |
| Cytomap | 14q24.1|14q22-q24 | |
| Type of gene | protein-coding | |
| Description | alpha-actinin-1F-actin cross-linking proteinactinin 1 smooth musclealpha-actinin cytoskeletal isoformepididymis secretory sperm binding proteinnon-muscle alpha-actinin-1 | |
| Modification date | 20200327 | |
| UniProtAcc | ||
| Context | - 31755389(Genome-wide Network-assisted Association and Enrichment Study of Amyloid Imaging Phenotype in Alzheimer's Disease) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for ACTN1 |
| 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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ENSG00000072110
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 ACTN1 |
| 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_103005 | chr14 | 68878507:68878523:68878989:68879069:68879962:68880108 | 68878989:68879069 |
| exon_skip_108137 | chr14 | 68877082:68877240:68878458:68878523:68879962:68880108 | 68878458:68878523 |
| exon_skip_144443 | chr14 | 68921006:68921125:68925558:68925672:68978952:68979031 | 68925558:68925672 |
| exon_skip_15919 | chr14 | 68912156:68912242:68921006:68921125:68925558:68925672 | 68921006:68921125 |
| exon_skip_160759 | chr14 | 68878458:68878523:68878989:68879069:68879962:68880108 | 68878989:68879069 |
| exon_skip_187321 | chr14 | 68877082:68877240:68878989:68879069:68879962:68880108 | 68878989:68879069 |
| exon_skip_201306 | chr14 | 68882458:68882592:68882873:68883055:68884168:68884295 | 68882873:68883055 |
| exon_skip_226361 | chr14 | 68892228:68892283:68893655:68893747:68902477:68902562 | 68893655:68893747 |
| exon_skip_241995 | chr14 | 68877082:68877240:68878458:68878523:68878989:68879069 | 68878458:68878523 |
| exon_skip_246616 | chr14 | 68909318:68909396:68909955:68910042:68912156:68912242 | 68909955:68910042 |
| exon_skip_26553 | chr14 | 68893703:68893747:68902477:68902562:68904655:68904736 | 68902477:68902562 |
| exon_skip_278258 | chr14 | 68880810:68880989:68882458:68882592:68884168:68884295 | 68882458:68882592 |
| exon_skip_283083 | chr14 | 68893703:68893747:68900862:68900946:68902477:68902562 | 68900862:68900946 |
| exon_skip_33635 | chr14 | 68909318:68909396:68909955:68910042:68912156:68912241 | 68909955:68910042 |
| exon_skip_85447 | chr14 | 68884168:68884308:68884775:68884883:68885425:68885575 | 68884775:68884883 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_241995 | Mayo_CB | 3.278049e-01 | 4.434722e-01 | -1.156673e-01 | 1.621652e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for ACTN1 |
| 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 |
| ENST00000193403 | 68884775 | 68884883 | Frame-shift |
| ENST00000193403 | 68909955 | 68910042 | Frame-shift |
| ENST00000193403 | 68878989 | 68879069 | In-frame |
| ENST00000193403 | 68882873 | 68883055 | In-frame |
| ENST00000193403 | 68893655 | 68893747 | In-frame |
| ENST00000193403 | 68921006 | 68921125 | 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 |
| ENST00000193403 | 68909955 | 68910042 | Frame-shift |
| ENST00000193403 | 68878989 | 68879069 | In-frame |
| ENST00000193403 | 68882873 | 68883055 | In-frame |
| ENST00000193403 | 68893655 | 68893747 | 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 |
| ENST00000193403 | 68884775 | 68884883 | Frame-shift |
| ENST00000193403 | 68902477 | 68902562 | Frame-shift |
| ENST00000193403 | 68909955 | 68910042 | Frame-shift |
| ENST00000193403 | 68878989 | 68879069 | In-frame |
| ENST00000193403 | 68882873 | 68883055 | In-frame |
| ENST00000193403 | 68893655 | 68893747 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ACTN1 |
p-ENSG00000072110_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 |
| ENST00000193403 | 3796 | 892 | 68921006 | 68921125 | 605 | 723 | 73 | 113 |
| ENST00000193403 | 3796 | 892 | 68893655 | 68893747 | 1147 | 1238 | 254 | 284 |
| ENST00000193403 | 3796 | 892 | 68882873 | 68883055 | 2020 | 2201 | 545 | 605 |
| ENST00000193403 | 3796 | 892 | 68878989 | 68879069 | 2665 | 2744 | 760 | 786 |
| 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 |
| ENST00000193403 | 3796 | 892 | 68893655 | 68893747 | 1147 | 1238 | 254 | 284 |
| ENST00000193403 | 3796 | 892 | 68882873 | 68883055 | 2020 | 2201 | 545 | 605 |
| ENST00000193403 | 3796 | 892 | 68878989 | 68879069 | 2665 | 2744 | 760 | 786 |
| 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 |
| ENST00000193403 | 3796 | 892 | 68893655 | 68893747 | 1147 | 1238 | 254 | 284 |
| ENST00000193403 | 3796 | 892 | 68882873 | 68883055 | 2020 | 2201 | 545 | 605 |
| ENST00000193403 | 3796 | 892 | 68878989 | 68879069 | 2665 | 2744 | 760 | 786 |
| 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 |
| P12814 | 73 | 113 | 1 | 892 | Chain | ID=PRO_0000073431;Note=Alpha-actinin-1 |
| P12814 | 73 | 113 | 31 | 135 | Domain | Note=Calponin-homology (CH) 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 |
| P12814 | 73 | 113 | 63 | 73 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2EYI |
| P12814 | 73 | 113 | 86 | 102 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2EYI |
| P12814 | 73 | 113 | 112 | 116 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2EYI |
| P12814 | 73 | 113 | 95 | 95 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P12814 | 73 | 113 | 105 | 105 | Natural variant | ID=VAR_069912;Note=In BDPLT15%3B the mutation dominantly affects the actin filament assembly likely resulting in abnormal cytoskeletal organization. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23434115;Dbxref=dbSNP:rs387907345,PMID:23434115 |
| P12814 | 73 | 113 | 1 | 247 | Region | Note=Actin-binding |
| P12814 | 254 | 284 | 1 | 892 | Chain | ID=PRO_0000073431;Note=Alpha-actinin-1 |
| P12814 | 254 | 284 | 274 | 733 | Region | Note=Interaction with DDN;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16464232;Dbxref=PMID:16464232 |
| P12814 | 254 | 284 | 274 | 384 | Repeat | Note=Spectrin 1 |
| P12814 | 545 | 605 | 1 | 892 | Chain | ID=PRO_0000073431;Note=Alpha-actinin-1 |
| P12814 | 545 | 605 | 274 | 733 | Region | Note=Interaction with DDN;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16464232;Dbxref=PMID:16464232 |
| P12814 | 545 | 605 | 509 | 620 | Repeat | Note=Spectrin 3 |
| P12814 | 760 | 786 | 761 | 787 | Alternative sequence | ID=VSP_041264;Note=In isoform 2 and isoform 4. DHSGTLGPEEFKACLISLGYDIGNDPQ->KKTGMMDTDDFRACLISMGYNM;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:18353764,ECO:0000303|Ref.5;Dbxref=PMID:14702039,PM |
| P12814 | 760 | 786 | 763 | 766 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N8Y |
| P12814 | 760 | 786 | 759 | 770 | Calcium binding | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| P12814 | 760 | 786 | 1 | 892 | Chain | ID=PRO_0000073431;Note=Alpha-actinin-1 |
| P12814 | 760 | 786 | 746 | 781 | Domain | Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| P12814 | 760 | 786 | 768 | 774 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N8Y |
| P12814 | 760 | 786 | 775 | 778 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N8Y |
| P12814 | 760 | 786 | 778 | 778 | Sequence conflict | Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P12814 | 254 | 284 | 1 | 892 | Chain | ID=PRO_0000073431;Note=Alpha-actinin-1 |
| P12814 | 254 | 284 | 274 | 733 | Region | Note=Interaction with DDN;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16464232;Dbxref=PMID:16464232 |
| P12814 | 254 | 284 | 274 | 384 | Repeat | Note=Spectrin 1 |
| P12814 | 545 | 605 | 1 | 892 | Chain | ID=PRO_0000073431;Note=Alpha-actinin-1 |
| P12814 | 545 | 605 | 274 | 733 | Region | Note=Interaction with DDN;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16464232;Dbxref=PMID:16464232 |
| P12814 | 545 | 605 | 509 | 620 | Repeat | Note=Spectrin 3 |
| P12814 | 760 | 786 | 761 | 787 | Alternative sequence | ID=VSP_041264;Note=In isoform 2 and isoform 4. DHSGTLGPEEFKACLISLGYDIGNDPQ->KKTGMMDTDDFRACLISMGYNM;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:18353764,ECO:0000303|Ref.5;Dbxref=PMID:14702039,PM |
| P12814 | 760 | 786 | 763 | 766 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N8Y |
| P12814 | 760 | 786 | 759 | 770 | Calcium binding | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| P12814 | 760 | 786 | 1 | 892 | Chain | ID=PRO_0000073431;Note=Alpha-actinin-1 |
| P12814 | 760 | 786 | 746 | 781 | Domain | Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| P12814 | 760 | 786 | 768 | 774 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N8Y |
| P12814 | 760 | 786 | 775 | 778 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N8Y |
| P12814 | 760 | 786 | 778 | 778 | Sequence conflict | Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P12814 | 254 | 284 | 1 | 892 | Chain | ID=PRO_0000073431;Note=Alpha-actinin-1 |
| P12814 | 254 | 284 | 274 | 733 | Region | Note=Interaction with DDN;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16464232;Dbxref=PMID:16464232 |
| P12814 | 254 | 284 | 274 | 384 | Repeat | Note=Spectrin 1 |
| P12814 | 545 | 605 | 1 | 892 | Chain | ID=PRO_0000073431;Note=Alpha-actinin-1 |
| P12814 | 545 | 605 | 274 | 733 | Region | Note=Interaction with DDN;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16464232;Dbxref=PMID:16464232 |
| P12814 | 545 | 605 | 509 | 620 | Repeat | Note=Spectrin 3 |
| P12814 | 760 | 786 | 761 | 787 | Alternative sequence | ID=VSP_041264;Note=In isoform 2 and isoform 4. DHSGTLGPEEFKACLISLGYDIGNDPQ->KKTGMMDTDDFRACLISMGYNM;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:18353764,ECO:0000303|Ref.5;Dbxref=PMID:14702039,PM |
| P12814 | 760 | 786 | 763 | 766 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N8Y |
| P12814 | 760 | 786 | 759 | 770 | Calcium binding | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| P12814 | 760 | 786 | 1 | 892 | Chain | ID=PRO_0000073431;Note=Alpha-actinin-1 |
| P12814 | 760 | 786 | 746 | 781 | Domain | Note=EF-hand 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00448 |
| P12814 | 760 | 786 | 768 | 774 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N8Y |
| P12814 | 760 | 786 | 775 | 778 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N8Y |
| P12814 | 760 | 786 | 778 | 778 | Sequence conflict | Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ACTN1 |
| 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 ACTN1 |
| - 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 ACTN1 |
| 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 ACTN1 |
| 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 ACTN1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_241995 | -4.784504e-01 | 3.477063e-10 |
| CB | FUS | exon_skip_241995 | 4.099958e-01 | 1.288467e-07 |
| CB | RBM6 | exon_skip_246616 | -5.048411e-01 | 3.308779e-11 |
| CB | NUP42 | exon_skip_246616 | 4.478211e-01 | 7.259971e-09 |
| DLPFC | ENOX1 | exon_skip_241995 | 4.295758e-01 | 1.448422e-16 |
| FL | SRSF9 | exon_skip_241995 | 5.403253e-01 | 6.862742e-14 |
| HCC | PABPN1 | exon_skip_241995 | -4.401766e-01 | 2.563516e-14 |
| HCC | ZNF326 | exon_skip_241995 | -5.151760e-01 | 7.690590e-20 |
| HCC | ENOX1 | exon_skip_241995 | -4.204067e-01 | 4.491710e-13 |
| HCC | EIF4G2 | exon_skip_241995 | -5.255256e-01 | 1.026915e-20 |
| HCC | HNRNPF | exon_skip_241995 | -5.975349e-01 | 1.025112e-27 |
| IFG | NOVA1 | exon_skip_160759 | 4.264770e-01 | 2.362750e-02 |
| PCC | ZNF326 | exon_skip_241995 | -4.647425e-01 | 8.244135e-13 |
| PCC | HNRNPF | exon_skip_241995 | -6.294208e-01 | 6.664156e-25 |
| TC | FUS | exon_skip_241995 | 5.320012e-01 | 4.510119e-13 |
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RelatedDrugs for ACTN1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P12814 | approved|investigational | DB06773 | Human calcitonin | biotech | P12814 |
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RelatedDiseases for ACTN1 |
| 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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