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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 ASAP1 |
 Gene summary |
| Gene information | Gene symbol | ASAP1 | Gene ID | 50807 |
| Gene name | ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 | |
| Synonyms | AMAP1|CENTB4|DDEF1|PAG2|PAP|ZG14P | |
| Cytomap | 8q24.21-q24.22 | |
| Type of gene | protein-coding | |
| Description | arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating proteinADP-ribosyl | |
| Modification date | 20200327 | |
| UniProtAcc | A0A0A0MRE5, | |
| 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 ASAP1 |
| 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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ENSG00000153317
| 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 | ENST00000520189.1 | ASAP1-206:retained_intron:ASAP1 | 1.577440e+00 | 8.572355e-01 | 9.159785e-03 | 3.236324e-02 |
| 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 ASAP1 |
| 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_122751 | chr8 | 130159864:130159964:130160785:130160793:130167536:130167613 | 130160785:130160793 |
| exon_skip_125785 | chr8 | 130079902:130079971:130091973:130092143:130112094:130112322 | 130091973:130092143 |
| exon_skip_149029 | chr8 | 130214645:130214701:130236922:130236994:130358017:130358143 | 130236922:130236994 |
| exon_skip_204200 | chr8 | 130168992:130169067:130179264:130179349:130180751:130180862 | 130179264:130179349 |
| exon_skip_224396 | chr8 | 130236922:130236994:130358017:130358143:130401885:130401915 | 130358017:130358143 |
| exon_skip_263103 | chr8 | 130159864:130159964:130160785:130160793:130167536:130167622 | 130160785:130160793 |
| exon_skip_267104 | chr8 | 130079902:130079971:130091973:130092143:130112094:130112317 | 130091973:130092143 |
| exon_skip_27286 | chr8 | 130180867:130180880:130187236:130187285:130188109:130188183 | 130187236:130187285 |
| exon_skip_39766 | chr8 | 130358017:130358143:130361670:130361771:130401885:130401915 | 130361670:130361771 |
| exon_skip_7784 | chr8 | 130188109:130188183:130214556:130214701:130236922:130236994 | 130214556:130214701 |
| exon_skip_83803 | chr8 | 130358017:130358143:130401885:130401970:130443460:130443537 | 130401885:130401970 |
| 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_263103 | MSBB_PG | 6.750000e-01 | 7.773684e-01 | -1.023684e-01 | 8.348502e-06 |
| exon_skip_122751 | Mayo_TC | 3.334146e-01 | 4.427692e-01 | -1.093546e-01 | 3.312155e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for ASAP1 |
| 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 |
| ENST00000518721 | 130401885 | 130401970 | 3UTR-3CDS |
| ENST00000518721 | 130179264 | 130179349 | Frame-shift |
| ENST00000518721 | 130187236 | 130187285 | Frame-shift |
| ENST00000518721 | 130214556 | 130214701 | Frame-shift |
| ENST00000518721 | 130358017 | 130358143 | Frame-shift |
| ENST00000518721 | 130091973 | 130092143 | 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 |
| ENST00000518721 | 130179264 | 130179349 | Frame-shift |
| ENST00000518721 | 130187236 | 130187285 | Frame-shift |
| ENST00000518721 | 130358017 | 130358143 | Frame-shift |
| ENST00000518721 | 130091973 | 130092143 | 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 |
| ENST00000518721 | 130401885 | 130401970 | 3UTR-3CDS |
| ENST00000518721 | 130179264 | 130179349 | Frame-shift |
| ENST00000518721 | 130187236 | 130187285 | Frame-shift |
| ENST00000518721 | 130214556 | 130214701 | Frame-shift |
| ENST00000518721 | 130236922 | 130236994 | Frame-shift |
| ENST00000518721 | 130358017 | 130358143 | Frame-shift |
| ENST00000518721 | 130091973 | 130092143 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ASAP1 |
p-ENSG00000153317_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 |
| ENST00000518721 | 5524 | 1129 | 130091973 | 130092143 | 2630 | 2799 | 800 | 857 |
| 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 |
| ENST00000518721 | 5524 | 1129 | 130091973 | 130092143 | 2630 | 2799 | 800 | 857 |
| 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 |
| ENST00000518721 | 5524 | 1129 | 130091973 | 130092143 | 2630 | 2799 | 800 | 857 |
| 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 |
| Q9ULH1 | 800 | 857 | 1 | 1129 | Chain | ID=PRO_0000074196;Note=Arf-GAP with SH3 domain%2C ANK repeat and PH domain-containing protein 1 |
| Q9ULH1 | 800 | 857 | 783 | 993 | Compositional bias | Note=Pro-rich |
| Q9ULH1 | 800 | 857 | 839 | 839 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 |
| Q9ULH1 | 800 | 857 | 843 | 843 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18088087,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18088087,PMID:18669648,PMID:23186163 |
| 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 |
| Q9ULH1 | 800 | 857 | 1 | 1129 | Chain | ID=PRO_0000074196;Note=Arf-GAP with SH3 domain%2C ANK repeat and PH domain-containing protein 1 |
| Q9ULH1 | 800 | 857 | 783 | 993 | Compositional bias | Note=Pro-rich |
| Q9ULH1 | 800 | 857 | 839 | 839 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 |
| Q9ULH1 | 800 | 857 | 843 | 843 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18088087,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18088087,PMID:18669648,PMID:23186163 |
| 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 |
| Q9ULH1 | 800 | 857 | 1 | 1129 | Chain | ID=PRO_0000074196;Note=Arf-GAP with SH3 domain%2C ANK repeat and PH domain-containing protein 1 |
| Q9ULH1 | 800 | 857 | 783 | 993 | Compositional bias | Note=Pro-rich |
| Q9ULH1 | 800 | 857 | 839 | 839 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569 |
| Q9ULH1 | 800 | 857 | 843 | 843 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18088087,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18088087,PMID:18669648,PMID:23186163 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ASAP1 |
| 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 ASAP1 |
| - 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 ASAP1 |
| 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 ASAP1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| DLPFC | exon_skip_263103 | rs6984815 | chr8:130143825 | 8.071485e-04 | 4.698522e-02 |
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Correlation with RNA binding proteins (RBPs) for ASAP1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SRSF9 | exon_skip_263103 | 4.482067e-01 | 4.455227e-08 |
| CB | SNRPA | exon_skip_204200 | -4.020597e-01 | 2.793280e-06 |
| CB | NUP42 | exon_skip_204200 | 4.593253e-01 | 5.578678e-08 |
| CB | CNOT4 | exon_skip_27286 | -5.517989e-01 | 8.426299e-12 |
| CB | RBM3 | exon_skip_27286 | 4.450819e-01 | 1.001527e-07 |
| CB | TRA2A | exon_skip_27286 | -5.845083e-01 | 2.308381e-13 |
| CB | NUP42 | exon_skip_27286 | 4.587359e-01 | 3.580692e-08 |
| FL | SRSF2 | exon_skip_122751 | 4.897676e-01 | 2.429165e-13 |
| FL | SRSF9 | exon_skip_122751 | 5.035459e-01 | 3.986303e-14 |
| IFG | PCBP1 | exon_skip_125785 | 4.628468e-01 | 2.275385e-02 |
| IFG | ILF2 | exon_skip_125785 | 4.374738e-01 | 3.252969e-02 |
| IFG | HNRNPF | exon_skip_125785 | 4.191731e-01 | 4.146083e-02 |
| IFG | SRSF9 | exon_skip_263103 | 4.504676e-01 | 1.614796e-02 |
| STG | SRSF2 | exon_skip_122751 | 4.436245e-01 | 9.463991e-06 |
| STG | SRSF9 | exon_skip_122751 | 4.927196e-01 | 6.060782e-07 |
| TC | KHDRBS2 | exon_skip_267104 | -4.840598e-01 | 2.311177e-10 |
| TC | SRSF2 | exon_skip_122751 | 5.013144e-01 | 9.968611e-11 |
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RelatedDrugs for ASAP1 |
| 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 ASAP1 |
| 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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