|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for PPFIA1 |
 Gene summary |
| Gene information | Gene symbol | PPFIA1 | Gene ID | 8500 |
| Gene name | PTPRF interacting protein alpha 1 | |
| Synonyms | LIP.1|LIP1|LIPRIN | |
| Cytomap | 11q13.3 | |
| Type of gene | protein-coding | |
| Description | liprin-alpha-1LAR-interacting protein 1LIP-1Liprin-alpha1protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 | |
| Modification date | 20200327 | |
| UniProtAcc | A0A1B0GVT3, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
Top |
Gene structures and expression levels for PPFIA1 |
| 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. |
 |
ENSG00000131626
| 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 |
| PG | UP | ENST00000253925.11 | PPFIA1-201:protein_coding:PPFIA1 | 2.204633e+02 | 1.155928e+00 | 8.204756e-06 | 4.339844e-04 |
| PG | UP | ENST00000528853.1 | PPFIA1-212:protein_coding:PPFIA1 | 7.822218e-01 | 1.722568e+00 | 8.102443e-04 | 1.252820e-02 |
| CB | DOWN | ENST00000531657.1 | PPFIA1-219:retained_intron:PPFIA1 | 2.150681e+02 | -1.398367e+00 | 3.920533e-15 | 1.671131e-12 |
| CB | UP | ENST00000530746.1 | PPFIA1-216:protein_coding:PPFIA1 | 5.184932e+00 | 1.235345e+00 | 1.751101e-03 | 8.250944e-03 |
| CB | UP | ENST00000525922.2 | PPFIA1-204:lncRNA:PPFIA1 | 9.358587e-01 | 8.266803e-01 | 1.386130e-02 | 4.525142e-02 |
| TC | DOWN | ENST00000531657.1 | PPFIA1-219:retained_intron:PPFIA1 | 5.204710e+01 | -8.546139e-01 | 3.927587e-06 | 1.227592e-04 |
| TC | UP | ENST00000533894.5 | PPFIA1-224:nonsense_mediated_decay:PPFIA1 | 2.656563e+00 | 1.078161e+00 | 3.227844e-04 | 4.066392e-03 |
| TC | UP | ENST00000528853.1 | PPFIA1-212:protein_coding:PPFIA1 | 1.848839e+00 | 9.865645e-01 | 1.212582e-03 | 1.146014e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PPFIA1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
 |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_137462 | chr11 | 70348375:70348420:70349923:70350039:70350994:70351023 | 70349923:70350039 |
| exon_skip_147413 | chr11 | 70348375:70348420:70349923:70350039:70354301:70354452 | 70349923:70350039 |
| exon_skip_148078 | chr11 | 70374918:70375093:70376532:70376600:70378030:70378195 | 70376532:70376600 |
| exon_skip_148545 | chr11 | 70331960:70332094:70333022:70333096:70333470:70333553 | 70333022:70333096 |
| exon_skip_165886 | chr11 | 70335613:70335694:70337365:70337427:70338374:70338434 | 70337365:70337427 |
| exon_skip_169425 | chr11 | 70355704:70355811:70356161:70356254:70362095:70362175 | 70356161:70356254 |
| exon_skip_171974 | chr11 | 70349923:70350039:70350994:70351023:70354301:70354452 | 70350994:70351023 |
| exon_skip_178429 | chr11 | 70348375:70348420:70350994:70351023:70354301:70354452 | 70350994:70351023 |
| exon_skip_197878 | chr11 | 70378078:70378195:70382088:70382158:70383003:70383629 | 70382088:70382158 |
| exon_skip_200352 | chr11 | 70365373:70365435:70365941:70365967:70372215:70372390 | 70365941:70365967 |
| exon_skip_204509 | chr11 | 70331960:70332094:70333470:70333553:70335563:70335571 | 70333470:70333553 |
| exon_skip_30882 | chr11 | 70343751:70343892:70348189:70348420:70354301:70354452 | 70348189:70348420 |
| exon_skip_47997 | chr11 | 70337397:70337427:70338374:70338453:70339171:70339201 | 70338374:70338453 |
| exon_skip_84732 | chr11 | 70337397:70337427:70338374:70338434:70339171:70339201 | 70338374:70338434 |
| exon_skip_91482 | chr11 | 70372477:70372574:70374918:70375093:70376532:70376600 | 70374918:70375093 |
| exon_skip_96818 | chr11 | 70372477:70372574:70374660:70374829:70374918:70375093 | 70374660:70374829 |
| 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 |
| exon_skip_178429 | Mayo_TC | 3.296341e-01 | 4.742857e-01 | -1.446516e-01 | 7.906715e-07 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PPFIA1 |
| 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 |
| ENST00000253925 | 70382088 | 70382158 | 3UTR-3CDS |
| ENST00000253925 | 70348189 | 70348420 | Frame-shift |
| ENST00000253925 | 70356161 | 70356254 | Frame-shift |
| ENST00000253925 | 70333470 | 70333553 | 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 |
| ENST00000253925 | 70382088 | 70382158 | 3UTR-3CDS |
| 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 |
| ENST00000253925 | 70382088 | 70382158 | 3UTR-3CDS |
| ENST00000253925 | 70338374 | 70338453 | Frame-shift |
| ENST00000253925 | 70348189 | 70348420 | Frame-shift |
| ENST00000253925 | 70356161 | 70356254 | Frame-shift |
| ENST00000253925 | 70374918 | 70375093 | Frame-shift |
| ENST00000253925 | 70337365 | 70337427 | In-frame |
| ENST00000253925 | 70376532 | 70376600 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PPFIA1 |
p-ENSG00000131626_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 |
| ENST00000253925 | 5251 | 1202 | 70333470 | 70333553 | 1429 | 1511 | 404 | 432 |
| 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 |
| 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 |
| ENST00000253925 | 5251 | 1202 | 70337365 | 70337427 | 1645 | 1706 | 476 | 497 |
| ENST00000253925 | 5251 | 1202 | 70376532 | 70376600 | 3532 | 3599 | 1105 | 1128 |
| 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 |
| Q13136 | 404 | 432 | 1 | 1202 | Chain | ID=PRO_0000191026;Note=Liprin-alpha-1 |
| Q13136 | 404 | 432 | 249 | 521 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| 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 |
| Q13136 | 476 | 497 | 1 | 1202 | Chain | ID=PRO_0000191026;Note=Liprin-alpha-1 |
| Q13136 | 476 | 497 | 249 | 521 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13136 | 476 | 497 | 492 | 492 | Sequence conflict | Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q13136 | 1105 | 1128 | 1 | 1202 | Chain | ID=PRO_0000191026;Note=Liprin-alpha-1 |
| Q13136 | 1105 | 1128 | 1051 | 1120 | Domain | Note=SAM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00184 |
| Q13136 | 1105 | 1128 | 1121 | 1123 | Sequence conflict | Note=GTD->PEF;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in PPFIA1 |
| 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 |
Top |
SNVs in the skipped exons for PPFIA1 |
| - 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 |
Top |
AD stage-associated exon skippint events for PPFIA1 |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPFIA1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for PPFIA1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RALYL | exon_skip_148545 | 4.709520e-01 | 6.240670e-10 |
| CB | SRSF4 | exon_skip_148545 | 4.427096e-01 | 8.023564e-09 |
| CB | MSI1 | exon_skip_137462 | 4.652763e-01 | 1.364529e-09 |
| CB | MSI1 | exon_skip_178429 | -4.000538e-01 | 1.910785e-07 |
| CB | PCBP2 | exon_skip_71371 | 4.227122e-01 | 3.151659e-08 |
| CB | HNRNPA0 | exon_skip_71371 | 4.484914e-01 | 3.428770e-09 |
| CB | NUP42 | exon_skip_71371 | 4.255561e-01 | 2.489782e-08 |
| CB | RALYL | exon_skip_71371 | 5.669199e-01 | 8.156567e-15 |
| FL | RALYL | exon_skip_148545 | 4.378442e-01 | 3.691786e-10 |
| HCC | DAZAP1 | exon_skip_148545 | -4.475286e-01 | 7.517202e-15 |
| HCC | MSI1 | exon_skip_148545 | -5.370016e-01 | 8.543355e-22 |
| HCC | PTBP1 | exon_skip_148545 | -5.815578e-01 | 4.217312e-26 |
| HCC | SRSF4 | exon_skip_148545 | -4.418802e-01 | 1.777829e-14 |
| HCC | RBM41 | exon_skip_148545 | -4.092999e-01 | 1.886400e-12 |
| HCC | MSI1 | exon_skip_178429 | -6.264711e-01 | 5.991723e-31 |
| HCC | PCBP1 | exon_skip_178429 | -4.069816e-01 | 3.103259e-12 |
| HCC | UNK | exon_skip_178429 | -4.797604e-01 | 5.254530e-17 |
| HCC | PCBP2 | exon_skip_178429 | -4.278536e-01 | 1.730418e-13 |
| HCC | HNRNPAB | exon_skip_178429 | -4.843408e-01 | 2.401553e-17 |
| IFG | RALYL | exon_skip_148545 | 5.812905e-01 | 1.178554e-03 |
| IFG | NUP42 | exon_skip_178429 | 4.889743e-01 | 8.278260e-03 |
| PCC | PTBP1 | exon_skip_148545 | -5.698668e-01 | 9.727622e-20 |
| PCC | ELAVL4 | exon_skip_137462 | -4.495082e-01 | 6.888840e-11 |
| PCC | MSI1 | exon_skip_178429 | -4.724032e-01 | 4.522226e-13 |
| PG | RALYL | exon_skip_148545 | 5.952528e-01 | 5.053812e-19 |
| PG | PTBP1 | exon_skip_148545 | -4.031126e-01 | 1.399883e-08 |
| PG | CELF1 | exon_skip_148545 | 4.006656e-01 | 1.742935e-08 |
| STG | RALYL | exon_skip_148545 | 4.802593e-01 | 2.875899e-06 |
| TC | MBNL1 | exon_skip_148545 | 4.006775e-01 | 1.519954e-07 |
| TC | NUP42 | exon_skip_148545 | 5.970107e-01 | 7.955709e-17 |
| TC | RALYL | exon_skip_148545 | 7.654487e-01 | 4.639344e-32 |
| TC | CELF1 | exon_skip_148545 | 5.318866e-01 | 4.572085e-13 |
| TC | MSI1 | exon_skip_137462 | 5.010083e-01 | 1.191225e-10 |
| TC | MSI1 | exon_skip_178429 | -5.797827e-01 | 1.167858e-15 |
| TC | NUP42 | exon_skip_178429 | 4.064933e-01 | 1.057086e-07 |
| TC | SRSF2 | exon_skip_71371 | 4.105885e-01 | 6.945747e-08 |
| TC | RBFOX2 | exon_skip_71371 | 8.202850e-01 | 3.546692e-40 |
| TC | ELAVL4 | exon_skip_71371 | 8.330274e-01 | 1.817202e-42 |
| TC | ILF2 | exon_skip_71371 | 4.739699e-01 | 2.441711e-10 |
| TC | KHDRBS2 | exon_skip_71371 | 7.960220e-01 | 2.799898e-36 |
| TC | KHDRBS3 | exon_skip_71371 | 7.163672e-01 | 1.762843e-26 |
| TC | RBM24 | exon_skip_71371 | 7.554089e-01 | 8.211492e-31 |
| TC | ENOX1 | exon_skip_71371 | 4.344028e-01 | 9.509119e-09 |
| TC | HNRNPA0 | exon_skip_71371 | 6.415661e-01 | 6.231839e-20 |
| TC | HNRNPD | exon_skip_71371 | 5.389982e-01 | 1.942040e-13 |
| TC | NUP42 | exon_skip_71371 | 6.714683e-01 | 2.546912e-22 |
| TC | RALYL | exon_skip_71371 | 8.294839e-01 | 8.228476e-42 |
| TC | PTBP1 | exon_skip_71371 | -4.007493e-01 | 1.511494e-07 |
| TC | PTBP3 | exon_skip_71371 | 4.483518e-01 | 2.757249e-09 |
| TC | CELF1 | exon_skip_71371 | 5.850914e-01 | 4.489142e-16 |
| TC | ESRP1 | exon_skip_71371 | 6.880282e-01 | 9.108770e-24 |
| TC | NOVA1 | exon_skip_71371 | 5.799830e-01 | 9.224276e-16 |
Top |
RelatedDrugs for PPFIA1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for PPFIA1 |
| 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)
|