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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 ACAP2 |
 Gene summary |
| Gene information | Gene symbol | ACAP2 | Gene ID | 23527 |
| Gene name | ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 | |
| Synonyms | CENTB2|CNT-B2 | |
| Cytomap | 3q29 | |
| Type of gene | protein-coding | |
| Description | arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2Arf GAP with coiled coil, ANK repeat and PH domains 2centaurin-beta-2 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A087X1H5, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ACAP2 | GO:0030029 | actin filament-based process | 11062263 |
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Gene structures and expression levels for ACAP2 |
| 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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ENSG00000114331
| 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 | UP | ENST00000450200.1 | ACAP2-206:protein_coding:ACAP2 | 3.843387e+01 | 8.333274e-01 | 4.686515e-09 | 1.592758e-07 |
| CB | UP | ENST00000439758.3 | ACAP2-204:protein_coding:ACAP2 | 1.648337e+01 | 8.596214e-01 | 3.975162e-07 | 6.838563e-06 |
| TC | UP | ENST00000635383.1 | ACAP2-216:protein_coding:ACAP2 | 1.537977e+01 | 9.202873e-01 | 3.192143e-05 | 6.485944e-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 ACAP2 |
| 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_115288 | chr3 | 195320701:195320813:195325444:195325455:195326885:195326959 | 195325444:195325455 |
| exon_skip_117970 | chr3 | 195294719:195294811:195295196:195295300:195295708:195295892 | 195295196:195295300 |
| exon_skip_125283 | chr3 | 195308786:195308837:195312947:195312967:195320701:195320813 | 195312947:195312967 |
| exon_skip_125744 | chr3 | 195308786:195308837:195320701:195320813:195325444:195325455 | 195320701:195320813 |
| exon_skip_129041 | chr3 | 195285796:195285857:195289121:195289231:195291706:195291815 | 195289121:195289231 |
| exon_skip_19437 | chr3 | 195308786:195308837:195320701:195320813:195326885:195326959 | 195320701:195320813 |
| exon_skip_213522 | chr3 | 195345309:195345317:195357691:195357784:195381009:195381062 | 195357691:195357784 |
| exon_skip_270598 | chr3 | 195392090:195392147:195410707:195411009:195412846:195412916 | 195410707:195411009 |
| exon_skip_4216 | chr3 | 195294719:195294811:195295196:195295300:195295708:195295758 | 195295196:195295300 |
| exon_skip_90848 | chr3 | 195302148:195302174:195306511:195306616:195307223:195307323 | 195306511:195306616 |
| exon_skip_95628 | chr3 | 195333082:195333123:195336932:195336976:195342471:195342609 | 195336932:195336976 |
| 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_117970 | MSBB_PG | 2.691473e-01 | 4.180392e-01 | -1.488919e-01 | 6.280381e-04 |
| exon_skip_115288 | MSBB_PG | 3.468148e-01 | 5.135185e-01 | -1.667037e-01 | 2.940250e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for ACAP2 |
| 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 |
| ENST00000326793 | 195336932 | 195336976 | 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 |
| ENST00000326793 | 195336932 | 195336976 | 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 |
| ENST00000326793 | 195306511 | 195306616 | Frame-shift |
| ENST00000326793 | 195320701 | 195320813 | Frame-shift |
| ENST00000326793 | 195289121 | 195289231 | In-frame |
| ENST00000326793 | 195336932 | 195336976 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ACAP2 |
p-ENSG00000114331_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 |
| ENST00000326793 | 7177 | 778 | 195336932 | 195336976 | 760 | 803 | 176 | 190 |
| 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 |
| ENST00000326793 | 7177 | 778 | 195336932 | 195336976 | 760 | 803 | 176 | 190 |
| 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 |
| ENST00000326793 | 7177 | 778 | 195336932 | 195336976 | 760 | 803 | 176 | 190 |
| ENST00000326793 | 7177 | 778 | 195289121 | 195289231 | 2295 | 2404 | 688 | 724 |
| 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 |
| Q15057 | 176 | 190 | 1 | 778 | Chain | ID=PRO_0000074210;Note=Arf-GAP with coiled-coil%2C ANK repeat and PH domain-containing protein 2 |
| Q15057 | 176 | 190 | 1 | 226 | Domain | Note=BAR |
| 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 |
| Q15057 | 176 | 190 | 1 | 778 | Chain | ID=PRO_0000074210;Note=Arf-GAP with coiled-coil%2C ANK repeat and PH domain-containing protein 2 |
| Q15057 | 176 | 190 | 1 | 226 | Domain | Note=BAR |
| 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 |
| Q15057 | 176 | 190 | 1 | 778 | Chain | ID=PRO_0000074210;Note=Arf-GAP with coiled-coil%2C ANK repeat and PH domain-containing protein 2 |
| Q15057 | 176 | 190 | 1 | 226 | Domain | Note=BAR |
| Q15057 | 688 | 724 | 1 | 778 | Chain | ID=PRO_0000074210;Note=Arf-GAP with coiled-coil%2C ANK repeat and PH domain-containing protein 2 |
| Q15057 | 688 | 724 | 673 | 702 | Repeat | Note=ANK 2 |
| Q15057 | 688 | 724 | 706 | 735 | Repeat | Note=ANK 3 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ACAP2 |
| 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 ACAP2 |
| - 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 ACAP2 |
| 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 ACAP2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_117970 | rs6791943 | chr3:195265438 | 8.145135e-04 | 4.969120e-02 |
| HCC | exon_skip_117970 | rs6792029 | chr3:195265495 | 8.145135e-04 | 4.969120e-02 |
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Correlation with RNA binding proteins (RBPs) for ACAP2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| FL | HNRNPH2 | exon_skip_117970 | 4.927063e-01 | 4.325159e-12 |
| HCC | DAZAP1 | exon_skip_117970 | -5.126294e-01 | 5.007506e-19 |
| HCC | MSI1 | exon_skip_117970 | -6.340397e-01 | 5.591937e-31 |
| HCC | SFPQ | exon_skip_117970 | -5.112353e-01 | 6.462535e-19 |
| HCC | UNK | exon_skip_117970 | -5.375239e-01 | 4.297740e-21 |
| HCC | RBM41 | exon_skip_117970 | -4.728031e-01 | 4.713045e-16 |
| HCC | RBM4B | exon_skip_117970 | -5.086794e-01 | 1.028449e-18 |
| HCC | RBM4 | exon_skip_115288 | -4.458859e-01 | 5.867380e-14 |
| IFG | RALYL | exon_skip_117970 | 5.696675e-01 | 1.554546e-03 |
| PCC | MSI1 | exon_skip_117970 | -5.467221e-01 | 1.358997e-16 |
| PCC | RALYL | exon_skip_117970 | 4.071165e-01 | 3.497044e-09 |
| PG | PUM1 | exon_skip_117970 | 4.414921e-01 | 5.516217e-10 |
| PG | RALYL | exon_skip_117970 | 5.089160e-01 | 2.998305e-13 |
| PG | EWSR1 | exon_skip_117970 | 4.738660e-01 | 1.831615e-11 |
| PG | HNRNPH2 | exon_skip_117970 | 5.379444e-01 | 6.841451e-15 |
| STG | MSI1 | exon_skip_117970 | -4.825972e-01 | 3.832285e-06 |
| STG | RALYL | exon_skip_117970 | 4.675211e-01 | 8.344698e-06 |
| STG | HNRNPH2 | exon_skip_117970 | 5.593537e-01 | 3.870331e-08 |
| STG | IGF2BP2 | exon_skip_125283 | 4.202103e-01 | 1.419475e-04 |
| TC | MSI1 | exon_skip_4216 | -4.595016e-01 | 8.810028e-09 |
| TC | PUM1 | exon_skip_4216 | 5.939962e-01 | 6.608365e-15 |
| TC | RALYL | exon_skip_4216 | 7.354045e-01 | 1.985368e-25 |
| TC | PTBP3 | exon_skip_4216 | 4.584151e-01 | 9.646130e-09 |
| TC | CELF1 | exon_skip_4216 | 5.452486e-01 | 2.283594e-12 |
| TC | HNRNPH2 | exon_skip_4216 | 6.167434e-01 | 3.035981e-16 |
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RelatedDrugs for ACAP2 |
| 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 ACAP2 |
| 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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