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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 ASAP2 |
 Gene summary |
| Gene information | Gene symbol | ASAP2 | Gene ID | 8853 |
| Gene name | ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 | |
| Synonyms | AMAP2|CENTB3|DDEF2|PAG3|PAP|Pap-alpha|SHAG1 | |
| Cytomap | 2p25.1|2p24 | |
| Type of gene | protein-coding | |
| Description | arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2PYK2 C terminus-associated proteincentaurin, beta 3development and differentiation-enhancing factor 2paxillin-associated protein with ARF GAP activity 3pyk2 C-terminus-associated p | |
| Modification date | 20200327 | |
| UniProtAcc | A0A286YFG8, O43150, | |
| Context |
| 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 ASAP2 |
| 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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ENSG00000151693
| 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 | ENST00000315273.4 | ASAP2-202:protein_coding:ASAP2 | 3.453695e+02 | 1.278562e+00 | 1.012244e-06 | 1.511717e-05 |
| 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 ASAP2 |
| 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_117107 | chr2 | 9297300:9297445:9318524:9318598:9320288:9320337 | 9318524:9318598 |
| exon_skip_125203 | chr2 | 9388294:9388546:9393482:9393647:9400023:9400072 | 9393482:9393647 |
| exon_skip_144982 | chr2 | 9380741:9380808:9385245:9385358:9388294:9388546 | 9385245:9385358 |
| exon_skip_196636 | chr2 | 9388383:9388546:9391062:9391196:9393482:9393647 | 9391062:9391196 |
| exon_skip_200782 | chr2 | 9206812:9207230:9279317:9279389:9297300:9297445 | 9279317:9279389 |
| exon_skip_212136 | chr2 | 9335102:9335179:9336036:9336044:9344532:9344635 | 9336036:9336044 |
| exon_skip_223927 | chr2 | 9378944:9379059:9380741:9380808:9385245:9385358 | 9380741:9380808 |
| exon_skip_224148 | chr2 | 9334738:9334813:9335093:9335179:9344532:9344635 | 9335093:9335179 |
| exon_skip_24855 | chr2 | 9344532:9344635:9344731:9344800:9350808:9350895 | 9344731:9344800 |
| exon_skip_260511 | chr2 | 9323121:9323250:9327826:9327911:9334738:9334813 | 9327826:9327911 |
| exon_skip_282997 | chr2 | 9335093:9335179:9336036:9336044:9344532:9344635 | 9336036:9336044 |
| exon_skip_59186 | chr2 | 9344731:9344800:9350808:9350895:9356047:9356095 | 9350808:9350895 |
| exon_skip_96103 | chr2 | 9393482:9393647:9400023:9400072:9400742:9400769 | 9400023:9400072 |
| exon_skip_96383 | chr2 | 9388294:9388546:9391062:9391196:9393482:9393647 | 9391062:9391196 |
| 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_212136 | ROSMAP_PCC | 3.800000e-01 | 5.013415e-01 | -1.213415e-01 | 4.416587e-04 |
| exon_skip_96383 | Mayo_CB | 7.861250e-01 | 9.156667e-01 | -1.295417e-01 | 1.722196e-09 |
| exon_skip_282997 | Mayo_TC | 1.416049e-01 | 2.457576e-01 | -1.041526e-01 | 2.400608e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for ASAP2 |
| 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 |
| ENST00000281419 | 9327826 | 9327911 | Frame-shift |
| ENST00000281419 | 9344731 | 9344800 | Frame-shift |
| ENST00000281419 | 9380741 | 9380808 | Frame-shift |
| ENST00000281419 | 9400023 | 9400072 | Frame-shift |
| ENST00000281419 | 9318524 | 9318598 | In-frame |
| ENST00000281419 | 9335093 | 9335179 | In-frame |
| ENST00000281419 | 9385245 | 9385358 | In-frame |
| ENST00000281419 | 9391062 | 9391196 | 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 |
| ENST00000281419 | 9327826 | 9327911 | Frame-shift |
| ENST00000281419 | 9344731 | 9344800 | Frame-shift |
| ENST00000281419 | 9318524 | 9318598 | In-frame |
| ENST00000281419 | 9391062 | 9391196 | 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 |
| ENST00000281419 | 9279317 | 9279389 | Frame-shift |
| ENST00000281419 | 9327826 | 9327911 | Frame-shift |
| ENST00000281419 | 9344731 | 9344800 | Frame-shift |
| ENST00000281419 | 9350808 | 9350895 | Frame-shift |
| ENST00000281419 | 9380741 | 9380808 | Frame-shift |
| ENST00000281419 | 9400023 | 9400072 | Frame-shift |
| ENST00000281419 | 9318524 | 9318598 | In-frame |
| ENST00000281419 | 9335093 | 9335179 | In-frame |
| ENST00000281419 | 9385245 | 9385358 | In-frame |
| ENST00000281419 | 9391062 | 9391196 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ASAP2 |
p-ENSG00000151693_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 |
| ENST00000281419 | 5729 | 1006 | 9318524 | 9318598 | 687 | 760 | 115 | 140 |
| ENST00000281419 | 5729 | 1006 | 9335093 | 9335179 | 1104 | 1189 | 254 | 283 |
| ENST00000281419 | 5729 | 1006 | 9385245 | 9385358 | 2358 | 2470 | 672 | 710 |
| ENST00000281419 | 5729 | 1006 | 9391062 | 9391196 | 2725 | 2858 | 795 | 839 |
| 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 |
| ENST00000281419 | 5729 | 1006 | 9318524 | 9318598 | 687 | 760 | 115 | 140 |
| ENST00000281419 | 5729 | 1006 | 9391062 | 9391196 | 2725 | 2858 | 795 | 839 |
| 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 |
| ENST00000281419 | 5729 | 1006 | 9318524 | 9318598 | 687 | 760 | 115 | 140 |
| ENST00000281419 | 5729 | 1006 | 9335093 | 9335179 | 1104 | 1189 | 254 | 283 |
| ENST00000281419 | 5729 | 1006 | 9385245 | 9385358 | 2358 | 2470 | 672 | 710 |
| ENST00000281419 | 5729 | 1006 | 9391062 | 9391196 | 2725 | 2858 | 795 | 839 |
| 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 |
| O43150 | 115 | 140 | 1 | 1006 | Chain | ID=PRO_0000074198;Note=Arf-GAP with SH3 domain%2C ANK repeat and PH domain-containing protein 2 |
| O43150 | 254 | 283 | 1 | 1006 | Chain | ID=PRO_0000074198;Note=Arf-GAP with SH3 domain%2C ANK repeat and PH domain-containing protein 2 |
| O43150 | 254 | 283 | 256 | 283 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43150 | 672 | 710 | 1 | 1006 | Chain | ID=PRO_0000074198;Note=Arf-GAP with SH3 domain%2C ANK repeat and PH domain-containing protein 2 |
| O43150 | 672 | 710 | 701 | 701 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18088087,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:1 |
| O43150 | 795 | 839 | 795 | 840 | Alternative sequence | ID=VSP_009722;Note=In isoform 2. VQTASSANTLWKTNSVSVDGGSRQRSSSDPPAVHPPLPPLRVTSTN->D;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O43150 | 795 | 839 | 1 | 1006 | Chain | ID=PRO_0000074198;Note=Arf-GAP with SH3 domain%2C ANK repeat and PH domain-containing protein 2 |
| O43150 | 795 | 839 | 771 | 936 | Compositional bias | Note=Pro-rich |
| O43150 | 795 | 839 | 822 | 822 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| 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 |
| O43150 | 115 | 140 | 1 | 1006 | Chain | ID=PRO_0000074198;Note=Arf-GAP with SH3 domain%2C ANK repeat and PH domain-containing protein 2 |
| O43150 | 795 | 839 | 795 | 840 | Alternative sequence | ID=VSP_009722;Note=In isoform 2. VQTASSANTLWKTNSVSVDGGSRQRSSSDPPAVHPPLPPLRVTSTN->D;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O43150 | 795 | 839 | 1 | 1006 | Chain | ID=PRO_0000074198;Note=Arf-GAP with SH3 domain%2C ANK repeat and PH domain-containing protein 2 |
| O43150 | 795 | 839 | 771 | 936 | Compositional bias | Note=Pro-rich |
| O43150 | 795 | 839 | 822 | 822 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| 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 |
| O43150 | 115 | 140 | 1 | 1006 | Chain | ID=PRO_0000074198;Note=Arf-GAP with SH3 domain%2C ANK repeat and PH domain-containing protein 2 |
| O43150 | 254 | 283 | 1 | 1006 | Chain | ID=PRO_0000074198;Note=Arf-GAP with SH3 domain%2C ANK repeat and PH domain-containing protein 2 |
| O43150 | 254 | 283 | 256 | 283 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43150 | 672 | 710 | 1 | 1006 | Chain | ID=PRO_0000074198;Note=Arf-GAP with SH3 domain%2C ANK repeat and PH domain-containing protein 2 |
| O43150 | 672 | 710 | 701 | 701 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18088087,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:1 |
| O43150 | 795 | 839 | 795 | 840 | Alternative sequence | ID=VSP_009722;Note=In isoform 2. VQTASSANTLWKTNSVSVDGGSRQRSSSDPPAVHPPLPPLRVTSTN->D;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O43150 | 795 | 839 | 1 | 1006 | Chain | ID=PRO_0000074198;Note=Arf-GAP with SH3 domain%2C ANK repeat and PH domain-containing protein 2 |
| O43150 | 795 | 839 | 771 | 936 | Compositional bias | Note=Pro-rich |
| O43150 | 795 | 839 | 822 | 822 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ASAP2 |
| 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 ASAP2 |
| - 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 ASAP2 |
| 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 ASAP2 |
| 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 ASAP2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_117107 | -4.686396e-01 | 4.609286e-09 |
| CB | PCBP1 | exon_skip_117107 | -4.372294e-01 | 5.927254e-08 |
| CB | PCBP4 | exon_skip_117107 | 6.014109e-01 | 3.123643e-15 |
| CB | TRA2A | exon_skip_117107 | -4.583770e-01 | 1.092512e-08 |
| CB | SNRPA | exon_skip_117107 | -4.266380e-01 | 1.325300e-07 |
| CB | NUP42 | exon_skip_117107 | 4.723852e-01 | 3.339935e-09 |
| CB | HNRNPF | exon_skip_117107 | -4.259753e-01 | 1.392470e-07 |
| CB | FUBP1 | exon_skip_260511 | -4.024095e-01 | 5.235181e-07 |
| CB | NUP42 | exon_skip_260511 | 4.578996e-01 | 7.003602e-09 |
| CB | PTBP1 | exon_skip_260511 | -4.098983e-01 | 3.056915e-07 |
| CB | SRSF2 | exon_skip_282997 | 4.136427e-01 | 1.914131e-07 |
| CB | SRSF9 | exon_skip_282997 | 4.866160e-01 | 4.128067e-10 |
| CB | RBM6 | exon_skip_96383 | -5.044220e-01 | 2.094077e-10 |
| CB | CNOT4 | exon_skip_96383 | -5.954953e-01 | 8.479620e-15 |
| CB | PCBP1 | exon_skip_96383 | -4.986732e-01 | 3.602452e-10 |
| CB | PCBP4 | exon_skip_96383 | 5.721322e-01 | 1.533431e-13 |
| CB | NUP42 | exon_skip_96383 | 5.358130e-01 | 8.994311e-12 |
| CB | EIF4G2 | exon_skip_96383 | -4.016555e-01 | 8.717349e-07 |
| CB | RBM23 | exon_skip_96383 | -4.108702e-01 | 4.597711e-07 |
| CB | RBM4B | exon_skip_96383 | -5.358809e-01 | 8.930088e-12 |
| FL | SRSF2 | exon_skip_282997 | 5.804520e-01 | 4.621803e-16 |
| FL | SRSF9 | exon_skip_282997 | 5.282127e-01 | 4.283278e-13 |
| TC | SRSF2 | exon_skip_282997 | 4.247671e-01 | 8.221103e-08 |
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RelatedDrugs for ASAP2 |
| 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 ASAP2 |
| 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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