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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 PPFIA2 |
 Gene summary |
| Gene information | Gene symbol | PPFIA2 | Gene ID | 8499 |
| Gene name | PTPRF interacting protein alpha 2 | |
| Synonyms | - | |
| Cytomap | 12q21.31 | |
| Type of gene | protein-coding | |
| Description | liprin-alpha-2protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 32147245(Extreme downregulation of chromosome Y and Alzheimer's disease in men) |
| 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 PPFIA2 |
| 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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ENSG00000139220
| 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 |
| STG | UP | ENST00000549917.1 | PPFIA2-217:lncRNA:PPFIA2 | 6.259924e+00 | 5.677080e+00 | 1.467634e-05 | 3.507735e-03 |
| STG | UP | ENST00000550359.6 | PPFIA2-219:protein_coding:PPFIA2 | 1.518792e+01 | 6.959165e+00 | 6.109602e-04 | 3.002972e-02 |
| PG | DOWN | ENST00000550584.6 | PPFIA2-220:protein_coding:PPFIA2 | 2.997791e+02 | -8.072203e-01 | 4.641384e-03 | 4.337037e-02 |
| CB | DOWN | ENST00000541017.5 | PPFIA2-204:protein_coding:PPFIA2 | 1.458546e+02 | -2.104472e+00 | 3.675980e-05 | 3.169362e-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 PPFIA2 |
| 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_100104 | chr12 | 81281338:81281450:81283010:81283039:81294835:81295035 | 81283010:81283039 |
| exon_skip_106381 | chr12 | 81362693:81362784:81367108:81367170:81368725:81368856 | 81367108:81367170 |
| exon_skip_106383 | chr12 | 81753973:81754223:81758400:81758507:81759280:81759314 | 81758400:81758507 |
| exon_skip_126428 | chr12 | 81283010:81283039:81284241:81284303:81294835:81295035 | 81284241:81284303 |
| exon_skip_145728 | chr12 | 81259601:81259660:81261949:81262040:81263231:81263390 | 81261949:81262040 |
| exon_skip_151074 | chr12 | 81281338:81281450:81283010:81283039:81284241:81284296 | 81283010:81283039 |
| exon_skip_157608 | chr12 | 81281257:81281432:81283010:81283039:81284241:81284303 | 81283010:81283039 |
| exon_skip_167781 | chr12 | 81384023:81384244:81405787:81405903:81439972:81440046 | 81405787:81405903 |
| exon_skip_175461 | chr12 | 81367108:81367170:81368103:81368166:81368725:81368851 | 81368103:81368166 |
| exon_skip_183146 | chr12 | 81457765:81457866:81676791:81676844:81753973:81754223 | 81676791:81676844 |
| exon_skip_190463 | chr12 | 81263231:81263390:81266952:81267020:81267912:81268087 | 81266952:81267020 |
| exon_skip_19112 | chr12 | 81299301:81299382:81312160:81312168:81325777:81325810 | 81312160:81312168 |
| exon_skip_192048 | chr12 | 81281338:81281450:81283010:81283039:81284241:81284303 | 81283010:81283039 |
| exon_skip_230961 | chr12 | 81405787:81405903:81439972:81440046:81445556:81445578 | 81439972:81440046 |
| exon_skip_280162 | chr12 | 81281257:81281432:81283010:81283039:81284241:81284296 | 81283010:81283039 |
| exon_skip_282573 | chr12 | 81358183:81358217:81362693:81362784:81367108:81367170 | 81362693:81362784 |
| exon_skip_43760 | chr12 | 81281257:81281432:81283010:81283039:81294835:81295035 | 81283010:81283039 |
| exon_skip_51015 | chr12 | 81277372:81277414:81281257:81281450:81294835:81295035 | 81281257:81281450 |
| exon_skip_64091 | chr12 | 81367108:81367170:81368103:81368166:81368725:81368856 | 81368103:81368166 |
| exon_skip_85916 | chr12 | 81294835:81295035:81299301:81299382:81325777:81325810 | 81299301:81299382 |
| 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 PPFIA2 |
| 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 |
| ENST00000549396 | 81261949 | 81262040 | 5CDS-5UTR |
| ENST00000549396 | 81283010 | 81283039 | In-frame |
| ENST00000549396 | 81284241 | 81284303 | In-frame |
| ENST00000549396 | 81405787 | 81405903 | In-frame |
| ENST00000549396 | 81439972 | 81440046 | In-frame |
| ENST00000549396 | 81676791 | 81676844 | 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 |
| ENST00000549396 | 81758400 | 81758507 | 3UTR-3UTR |
| ENST00000549396 | 81261949 | 81262040 | 5CDS-5UTR |
| ENST00000549396 | 81299301 | 81299382 | Frame-shift |
| ENST00000549396 | 81362693 | 81362784 | Frame-shift |
| ENST00000549396 | 81283010 | 81283039 | In-frame |
| ENST00000549396 | 81284241 | 81284303 | In-frame |
| ENST00000549396 | 81439972 | 81440046 | In-frame |
| ENST00000549396 | 81676791 | 81676844 | 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 |
| ENST00000549396 | 81758400 | 81758507 | 3UTR-3UTR |
| ENST00000549396 | 81261949 | 81262040 | 5CDS-5UTR |
| ENST00000549396 | 81266952 | 81267020 | In-frame |
| ENST00000549396 | 81283010 | 81283039 | In-frame |
| ENST00000549396 | 81284241 | 81284303 | In-frame |
| ENST00000549396 | 81367108 | 81367170 | In-frame |
| ENST00000549396 | 81439972 | 81440046 | In-frame |
| ENST00000549396 | 81676791 | 81676844 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PPFIA2 |
p-ENSG00000139220_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 |
| ENST00000549396 | 5380 | 1257 | 81676791 | 81676844 | 411 | 463 | 83 | 100 |
| ENST00000549396 | 5380 | 1257 | 81439972 | 81440046 | 732 | 805 | 190 | 214 |
| ENST00000549396 | 5380 | 1257 | 81405787 | 81405903 | 807 | 922 | 215 | 253 |
| ENST00000549396 | 5380 | 1257 | 81284241 | 81284303 | 3087 | 3148 | 975 | 995 |
| ENST00000549396 | 5380 | 1257 | 81283010 | 81283039 | 3150 | 3178 | 996 | 1005 |
| 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 |
| ENST00000549396 | 5380 | 1257 | 81676791 | 81676844 | 411 | 463 | 83 | 100 |
| ENST00000549396 | 5380 | 1257 | 81439972 | 81440046 | 732 | 805 | 190 | 214 |
| ENST00000549396 | 5380 | 1257 | 81284241 | 81284303 | 3087 | 3148 | 975 | 995 |
| ENST00000549396 | 5380 | 1257 | 81283010 | 81283039 | 3150 | 3178 | 996 | 1005 |
| 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 |
| ENST00000549396 | 5380 | 1257 | 81676791 | 81676844 | 411 | 463 | 83 | 100 |
| ENST00000549396 | 5380 | 1257 | 81439972 | 81440046 | 732 | 805 | 190 | 214 |
| ENST00000549396 | 5380 | 1257 | 81367108 | 81367170 | 1644 | 1705 | 494 | 514 |
| ENST00000549396 | 5380 | 1257 | 81284241 | 81284303 | 3087 | 3148 | 975 | 995 |
| ENST00000549396 | 5380 | 1257 | 81283010 | 81283039 | 3150 | 3178 | 996 | 1005 |
| ENST00000549396 | 5380 | 1257 | 81266952 | 81267020 | 3648 | 3715 | 1162 | 1184 |
| 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 |
| O75334 | 83 | 100 | 1 | 783 | Alternative sequence | ID=VSP_046718;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 83 | 100 | 1 | 433 | Alternative sequence | ID=VSP_046719;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 83 | 100 | 75 | 101 | Alternative sequence | ID=VSP_046721;Note=In isoform 5 and isoform 6. RQLNSALPQDIESLTGGLAGSKGADPP->MIFSDMNTVSGSPKVHPPNGTRFYTFQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 83 | 100 | 84 | 101 | Alternative sequence | ID=VSP_043819;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 83 | 100 | 1 | 1257 | Chain | ID=PRO_0000191027;Note=Liprin-alpha-2 |
| O75334 | 83 | 100 | 29 | 154 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75334 | 190 | 214 | 1 | 783 | Alternative sequence | ID=VSP_046718;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 190 | 214 | 1 | 433 | Alternative sequence | ID=VSP_046719;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 190 | 214 | 191 | 215 | Alternative sequence | ID=VSP_046722;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 190 | 214 | 1 | 1257 | Chain | ID=PRO_0000191027;Note=Liprin-alpha-2 |
| O75334 | 190 | 214 | 185 | 541 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75334 | 190 | 214 | 115 | 528 | Compositional bias | Note=Glu-rich |
| O75334 | 215 | 253 | 1 | 783 | Alternative sequence | ID=VSP_046718;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 215 | 253 | 1 | 433 | Alternative sequence | ID=VSP_046719;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 215 | 253 | 191 | 215 | Alternative sequence | ID=VSP_046722;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 215 | 253 | 1 | 1257 | Chain | ID=PRO_0000191027;Note=Liprin-alpha-2 |
| O75334 | 215 | 253 | 185 | 541 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75334 | 215 | 253 | 115 | 528 | Compositional bias | Note=Glu-rich |
| O75334 | 215 | 253 | 236 | 236 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8BSS9 |
| O75334 | 215 | 253 | 237 | 237 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8BSS9 |
| O75334 | 215 | 253 | 239 | 239 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8BSS9 |
| O75334 | 975 | 995 | 976 | 1006 | Alternative sequence | ID=VSP_046723;Note=In isoform 7 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 975 | 995 | 976 | 996 | Alternative sequence | ID=VSP_043821;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| O75334 | 975 | 995 | 1 | 1257 | Chain | ID=PRO_0000191027;Note=Liprin-alpha-2 |
| O75334 | 975 | 995 | 984 | 994 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TAC |
| O75334 | 996 | 1005 | 976 | 1006 | Alternative sequence | ID=VSP_046723;Note=In isoform 7 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 996 | 1005 | 976 | 996 | Alternative sequence | ID=VSP_043821;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| O75334 | 996 | 1005 | 1 | 1257 | Chain | ID=PRO_0000191027;Note=Liprin-alpha-2 |
| 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 |
| O75334 | 83 | 100 | 1 | 783 | Alternative sequence | ID=VSP_046718;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 83 | 100 | 1 | 433 | Alternative sequence | ID=VSP_046719;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 83 | 100 | 75 | 101 | Alternative sequence | ID=VSP_046721;Note=In isoform 5 and isoform 6. RQLNSALPQDIESLTGGLAGSKGADPP->MIFSDMNTVSGSPKVHPPNGTRFYTFQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 83 | 100 | 84 | 101 | Alternative sequence | ID=VSP_043819;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 83 | 100 | 1 | 1257 | Chain | ID=PRO_0000191027;Note=Liprin-alpha-2 |
| O75334 | 83 | 100 | 29 | 154 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75334 | 190 | 214 | 1 | 783 | Alternative sequence | ID=VSP_046718;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 190 | 214 | 1 | 433 | Alternative sequence | ID=VSP_046719;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 190 | 214 | 191 | 215 | Alternative sequence | ID=VSP_046722;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 190 | 214 | 1 | 1257 | Chain | ID=PRO_0000191027;Note=Liprin-alpha-2 |
| O75334 | 190 | 214 | 185 | 541 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75334 | 190 | 214 | 115 | 528 | Compositional bias | Note=Glu-rich |
| O75334 | 975 | 995 | 976 | 1006 | Alternative sequence | ID=VSP_046723;Note=In isoform 7 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 975 | 995 | 976 | 996 | Alternative sequence | ID=VSP_043821;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| O75334 | 975 | 995 | 1 | 1257 | Chain | ID=PRO_0000191027;Note=Liprin-alpha-2 |
| O75334 | 975 | 995 | 984 | 994 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TAC |
| O75334 | 996 | 1005 | 976 | 1006 | Alternative sequence | ID=VSP_046723;Note=In isoform 7 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 996 | 1005 | 976 | 996 | Alternative sequence | ID=VSP_043821;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| O75334 | 996 | 1005 | 1 | 1257 | Chain | ID=PRO_0000191027;Note=Liprin-alpha-2 |
| 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 |
| O75334 | 83 | 100 | 1 | 783 | Alternative sequence | ID=VSP_046718;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 83 | 100 | 1 | 433 | Alternative sequence | ID=VSP_046719;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 83 | 100 | 75 | 101 | Alternative sequence | ID=VSP_046721;Note=In isoform 5 and isoform 6. RQLNSALPQDIESLTGGLAGSKGADPP->MIFSDMNTVSGSPKVHPPNGTRFYTFQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 83 | 100 | 84 | 101 | Alternative sequence | ID=VSP_043819;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 83 | 100 | 1 | 1257 | Chain | ID=PRO_0000191027;Note=Liprin-alpha-2 |
| O75334 | 83 | 100 | 29 | 154 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75334 | 190 | 214 | 1 | 783 | Alternative sequence | ID=VSP_046718;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 190 | 214 | 1 | 433 | Alternative sequence | ID=VSP_046719;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 190 | 214 | 191 | 215 | Alternative sequence | ID=VSP_046722;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 190 | 214 | 1 | 1257 | Chain | ID=PRO_0000191027;Note=Liprin-alpha-2 |
| O75334 | 190 | 214 | 185 | 541 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75334 | 190 | 214 | 115 | 528 | Compositional bias | Note=Glu-rich |
| O75334 | 494 | 514 | 1 | 783 | Alternative sequence | ID=VSP_046718;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 494 | 514 | 1 | 1257 | Chain | ID=PRO_0000191027;Note=Liprin-alpha-2 |
| O75334 | 494 | 514 | 185 | 541 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75334 | 494 | 514 | 115 | 528 | Compositional bias | Note=Glu-rich |
| O75334 | 975 | 995 | 976 | 1006 | Alternative sequence | ID=VSP_046723;Note=In isoform 7 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 975 | 995 | 976 | 996 | Alternative sequence | ID=VSP_043821;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| O75334 | 975 | 995 | 1 | 1257 | Chain | ID=PRO_0000191027;Note=Liprin-alpha-2 |
| O75334 | 975 | 995 | 984 | 994 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TAC |
| O75334 | 996 | 1005 | 976 | 1006 | Alternative sequence | ID=VSP_046723;Note=In isoform 7 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O75334 | 996 | 1005 | 976 | 996 | Alternative sequence | ID=VSP_043821;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| O75334 | 996 | 1005 | 1 | 1257 | Chain | ID=PRO_0000191027;Note=Liprin-alpha-2 |
| O75334 | 1162 | 1184 | 1 | 1257 | Chain | ID=PRO_0000191027;Note=Liprin-alpha-2 |
| O75334 | 1162 | 1184 | 1108 | 1177 | Domain | Note=SAM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00184 |
| O75334 | 1162 | 1184 | 1161 | 1178 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3TAC |
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3'-UTR located exon skipping events that lost miRNA binding sites in PPFIA2 |
| 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 |
| Mayo | ENST00000549396 | 81758400 | 81758507 | hsa-miR-616-3p | chr12:81758440-81758447 | 8mer-1a | chr12:81758431-81758451 | 167.00 | -17.54 |
| Mayo | ENST00000549396 | 81758400 | 81758507 | hsa-miR-665 | chr12:81758492-81758499 | 8mer-1a | chr12:81758479-81758499 | 153.00 | -25.27 |
| Mayo | ENST00000549396 | 81758400 | 81758507 | hsa-miR-3185 | chr12:81758426-81758433 | 8mer-1a | chr12:81758426-81758447 | 155.00 | -13.53 |
| Mayo | ENST00000549396 | 81758400 | 81758507 | hsa-miR-5589-5p | chr12:81758484-81758491 | 8mer-1a | chr12:81758477-81758497 | 166.00 | -31.31 |
| Mayo | ENST00000549396 | 81758400 | 81758507 | hsa-miR-5088-3p | chr12:81758469-81758476 | 8mer-1a | chr12:81758462-81758482 | 167.00 | -32.46 |
| Mayo | ENST00000549396 | 81758400 | 81758507 | hsa-miR-6823-3p | chr12:81758475-81758482 | 8mer-1a | chr12:81758462-81758482 | 167.00 | -32.46 |
| Mayo | ENST00000549396 | 81758400 | 81758507 | hsa-miR-4455 | chr12:81758481-81758488 | 8mer-1a | chr12:81758477-81758497 | 166.00 | -31.31 |
| Mayo | ENST00000549396 | 81758400 | 81758507 | hsa-miR-4279 | chr12:81758465-81758472 | 8mer-1a | chr12:81758462-81758482 | 167.00 | -32.46 |
| Mayo | ENST00000549396 | 81758400 | 81758507 | hsa-miR-2114-3p | chr12:81758475-81758482 | 8mer-1a | chr12:81758462-81758482 | 167.00 | -32.46 |
| MSBB | ENST00000549396 | 81758400 | 81758507 | hsa-miR-616-3p | chr12:81758440-81758447 | 8mer-1a | chr12:81758431-81758451 | 167.00 | -17.54 |
| MSBB | ENST00000549396 | 81758400 | 81758507 | hsa-miR-665 | chr12:81758492-81758499 | 8mer-1a | chr12:81758479-81758499 | 153.00 | -25.27 |
| MSBB | ENST00000549396 | 81758400 | 81758507 | hsa-miR-3185 | chr12:81758426-81758433 | 8mer-1a | chr12:81758426-81758447 | 155.00 | -13.53 |
| MSBB | ENST00000549396 | 81758400 | 81758507 | hsa-miR-5589-5p | chr12:81758484-81758491 | 8mer-1a | chr12:81758477-81758497 | 166.00 | -31.31 |
| MSBB | ENST00000549396 | 81758400 | 81758507 | hsa-miR-5088-3p | chr12:81758469-81758476 | 8mer-1a | chr12:81758462-81758482 | 167.00 | -32.46 |
| MSBB | ENST00000549396 | 81758400 | 81758507 | hsa-miR-6823-3p | chr12:81758475-81758482 | 8mer-1a | chr12:81758462-81758482 | 167.00 | -32.46 |
| MSBB | ENST00000549396 | 81758400 | 81758507 | hsa-miR-4455 | chr12:81758481-81758488 | 8mer-1a | chr12:81758477-81758497 | 166.00 | -31.31 |
| MSBB | ENST00000549396 | 81758400 | 81758507 | hsa-miR-4279 | chr12:81758465-81758472 | 8mer-1a | chr12:81758462-81758482 | 167.00 | -32.46 |
| MSBB | ENST00000549396 | 81758400 | 81758507 | hsa-miR-2114-3p | chr12:81758475-81758482 | 8mer-1a | chr12:81758462-81758482 | 167.00 | -32.46 |
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SNVs in the skipped exons for PPFIA2 |
| - 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 PPFIA2 |
| 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 |
| CDR | MSBB | IFG | exon_skip_292736 | -4.889420e-01 | 8.283177e-03 | chr12 | - | 81369125 | 81369194 | 81369622 | 81369708 | 81374634 | 81374768 |
| CDR | MSBB | IFG | exon_skip_64091 | 3.743955e-01 | 4.966384e-02 | chr12 | - | 81367108 | 81367170 | 81368103 | 81368166 | 81368725 | 81368856 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPFIA2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_183146 | rs2178686 | chr12:81598766 | 1.353703e-04 | 2.195402e-02 |
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Correlation with RNA binding proteins (RBPs) for PPFIA2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | NUP42 | exon_skip_19112 | 4.660371e-01 | 3.943832e-09 |
| DLPFC | RBM3 | exon_skip_126428 | -4.685514e-01 | 6.376778e-16 |
| FL | SRSF2 | exon_skip_126428 | -4.667235e-01 | 1.885935e-11 |
| FL | RBM3 | exon_skip_126428 | -6.887749e-01 | 1.689587e-27 |
| FL | HNRNPK | exon_skip_126428 | -4.085276e-01 | 7.097994e-09 |
| HCC | RBM5 | exon_skip_100104 | -4.667028e-01 | 1.511014e-14 |
| HCC | KHDRBS3 | exon_skip_100104 | -4.216273e-01 | 6.829167e-12 |
| IFG | RBM5 | exon_skip_145728 | 5.717777e-01 | 1.834458e-03 |
| IFG | RC3H1 | exon_skip_145728 | 4.828956e-01 | 1.073072e-02 |
| IFG | KHDRBS2 | exon_skip_157608 | 5.224548e-01 | 7.378762e-03 |
| IFG | SRSF1 | exon_skip_192048 | -4.219651e-01 | 2.530879e-02 |
| IFG | RBM3 | exon_skip_126428 | -7.001925e-01 | 3.353975e-05 |
| IFG | MATR3 | exon_skip_126428 | 4.129097e-01 | 2.897718e-02 |
| IFG | TRA2A | exon_skip_126428 | 5.478218e-01 | 2.547427e-03 |
| IFG | RALYL | exon_skip_126428 | 6.053719e-01 | 6.418472e-04 |
| IFG | NOVA1 | exon_skip_126428 | 6.079215e-01 | 6.001393e-04 |
| IFG | RALYL | exon_skip_19112 | -4.267692e-01 | 2.352181e-02 |
| IFG | MSI1 | exon_skip_230961 | 4.695267e-01 | 1.347650e-02 |
| IFG | RALYL | exon_skip_230961 | 5.176817e-01 | 5.680924e-03 |
| IFG | A1CF | exon_skip_183146 | 5.139918e-01 | 5.143425e-03 |
| PCC | RBM3 | exon_skip_100104 | 4.889532e-01 | 1.331351e-11 |
| PCC | RBM3 | exon_skip_126428 | -7.120754e-01 | 3.704518e-31 |
| PG | RBM3 | exon_skip_126428 | -4.484592e-01 | 2.730490e-09 |
| STG | RBM3 | exon_skip_126428 | -5.272032e-01 | 9.936724e-07 |
| TC | KHDRBS2 | exon_skip_280162 | 4.668451e-01 | 3.583538e-08 |
| TC | KHDRBS3 | exon_skip_280162 | 4.545302e-01 | 8.974691e-08 |
| TC | KHDRBS2 | exon_skip_151074 | 7.254026e-01 | 2.853913e-26 |
| TC | KHDRBS3 | exon_skip_151074 | 6.718592e-01 | 1.973322e-21 |
| TC | NUP42 | exon_skip_151074 | 5.313590e-01 | 1.589131e-12 |
| TC | RBM3 | exon_skip_100104 | 5.147400e-01 | 4.551481e-12 |
| TC | HNRNPK | exon_skip_100104 | 4.142368e-01 | 6.281857e-08 |
| TC | KHDRBS2 | exon_skip_100104 | 8.189273e-01 | 1.854468e-39 |
| TC | KHDRBS3 | exon_skip_100104 | 6.990973e-01 | 1.704412e-24 |
| TC | NUP42 | exon_skip_100104 | 6.415301e-01 | 1.072364e-19 |
| TC | RBM3 | exon_skip_126428 | -5.732417e-01 | 7.313620e-14 |
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RelatedDrugs for PPFIA2 |
| 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 PPFIA2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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