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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 SIPA1L1 |
 Gene summary |
| Gene information | Gene symbol | SIPA1L1 | Gene ID | 26037 |
| Gene name | signal induced proliferation associated 1 like 1 | |
| Synonyms | E6TP1|SPAR1 | |
| Cytomap | 14q24.2 | |
| Type of gene | protein-coding | |
| Description | signal-induced proliferation-associated 1-like protein 1SIPA1-like protein 1high-risk human papilloma viruses E6 oncoproteins targeted protein 1spine-associated RapGAP 1 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| 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 SIPA1L1 |
| 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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ENSG00000197555
| 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 | DOWN | ENST00000557469.1 | SIPA1L1-217:lncRNA:SIPA1L1 | 1.577201e+00 | -1.431623e+00 | 2.901285e-05 | 2.592918e-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 SIPA1L1 |
| 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_14407 | chr14 | 71650335:71650509:71658333:71658436:71661310:71661449 | 71658333:71658436 |
| exon_skip_146535 | chr14 | 71685362:71685631:71698981:71699127:71702381:71702505 | 71698981:71699127 |
| exon_skip_189200 | chr14 | 71733666:71733812:71735277:71735391:71738244:71738325 | 71735277:71735391 |
| exon_skip_1913 | chr14 | 71413948:71414014:71497854:71497889:71512743:71512844 | 71497854:71497889 |
| exon_skip_191883 | chr14 | 71587571:71589370:71618757:71618887:71624048:71624236 | 71618757:71618887 |
| exon_skip_199953 | chr14 | 71624048:71624236:71650335:71650509:71658333:71658436 | 71650335:71650509 |
| exon_skip_207394 | chr14 | 71413948:71414014:71418130:71418196:71512743:71512844 | 71418130:71418196 |
| exon_skip_214632 | chr14 | 71400794:71400918:71503828:71503946:71512743:71512845 | 71503828:71503946 |
| exon_skip_21590 | chr14 | 71512743:71512845:71529312:71529370:71576535:71576587 | 71529312:71529370 |
| exon_skip_22779 | chr14 | 71704721:71704783:71705222:71705340:71709222:71709342 | 71705222:71705340 |
| exon_skip_23338 | chr14 | 71733666:71733812:71735277:71735391:71738241:71738325 | 71735277:71735391 |
| exon_skip_234740 | chr14 | 71702381:71702505:71705222:71705340:71709222:71709342 | 71705222:71705340 |
| exon_skip_23749 | chr14 | 71413948:71414014:71497854:71497889:71512743:71512845 | 71497854:71497889 |
| exon_skip_238882 | chr14 | 71512743:71512845:71529312:71529370:71587571:71587622 | 71529312:71529370 |
| exon_skip_240124 | chr14 | 71529325:71529370:71576535:71576587:71587571:71587622 | 71576535:71576587 |
| exon_skip_244187 | chr14 | 71512743:71512845:71528699:71528740:71529312:71529370 | 71528699:71528740 |
| exon_skip_251629 | chr14 | 71400794:71400918:71413948:71414014:71512743:71512844 | 71413948:71414014 |
| exon_skip_25397 | chr14 | 71321122:71321181:71400794:71400918:71413948:71414014 | 71400794:71400918 |
| exon_skip_256663 | chr14 | 71413948:71414014:71418130:71418196:71512743:71512845 | 71418130:71418196 |
| exon_skip_257793 | chr14 | 71672348:71672622:71685362:71685631:71698981:71699127 | 71685362:71685631 |
| exon_skip_273985 | chr14 | 71400794:71400918:71413948:71414014:71512743:71512845 | 71413948:71414014 |
| exon_skip_280473 | chr14 | 71724670:71724835:71730055:71730301:71733666:71733812 | 71730055:71730301 |
| exon_skip_295174 | chr14 | 71702381:71702505:71704721:71704783:71705222:71705340 | 71704721:71704783 |
| exon_skip_309 | chr14 | 71321122:71321181:71379495:71379598:71400794:71400918 | 71379495:71379598 |
| exon_skip_43448 | chr14 | 71702381:71702505:71704721:71705340:71709222:71709342 | 71704721:71705340 |
| exon_skip_64739 | chr14 | 71529325:71529370:71587571:71589370:71618757:71618887 | 71587571:71589370 |
| 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 SIPA1L1 |
| 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 |
| ENST00000555818 | 71587571 | 71589370 | 5CDS-5UTR |
| ENST00000555818 | 71618757 | 71618887 | Frame-shift |
| ENST00000555818 | 71650335 | 71650509 | Frame-shift |
| ENST00000555818 | 71705222 | 71705340 | Frame-shift |
| ENST00000555818 | 71730055 | 71730301 | Frame-shift |
| ENST00000555818 | 71735277 | 71735391 | Frame-shift |
| ENST00000555818 | 71698981 | 71699127 | In-frame |
| ENST00000555818 | 71704721 | 71704783 | 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 |
| ENST00000555818 | 71587571 | 71589370 | 5CDS-5UTR |
| ENST00000555818 | 71618757 | 71618887 | Frame-shift |
| ENST00000555818 | 71650335 | 71650509 | Frame-shift |
| ENST00000555818 | 71730055 | 71730301 | Frame-shift |
| ENST00000555818 | 71685362 | 71685631 | In-frame |
| ENST00000555818 | 71698981 | 71699127 | In-frame |
| ENST00000555818 | 71704721 | 71704783 | 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 |
| ENST00000555818 | 71587571 | 71589370 | 5CDS-5UTR |
| ENST00000555818 | 71618757 | 71618887 | Frame-shift |
| ENST00000555818 | 71650335 | 71650509 | Frame-shift |
| ENST00000555818 | 71658333 | 71658436 | Frame-shift |
| ENST00000555818 | 71730055 | 71730301 | Frame-shift |
| ENST00000555818 | 71735277 | 71735391 | Frame-shift |
| ENST00000555818 | 71698981 | 71699127 | In-frame |
| ENST00000555818 | 71704721 | 71704783 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SIPA1L1 |
p-ENSG00000197555_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 |
| ENST00000555818 | 7848 | 1804 | 71698981 | 71699127 | 3724 | 3869 | 1125 | 1173 |
| ENST00000555818 | 7848 | 1804 | 71704721 | 71704783 | 3996 | 4057 | 1216 | 1236 |
| 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 |
| ENST00000555818 | 7848 | 1804 | 71685362 | 71685631 | 3454 | 3722 | 1035 | 1124 |
| ENST00000555818 | 7848 | 1804 | 71698981 | 71699127 | 3724 | 3869 | 1125 | 1173 |
| ENST00000555818 | 7848 | 1804 | 71704721 | 71704783 | 3996 | 4057 | 1216 | 1236 |
| 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 |
| ENST00000555818 | 7848 | 1804 | 71698981 | 71699127 | 3724 | 3869 | 1125 | 1173 |
| ENST00000555818 | 7848 | 1804 | 71704721 | 71704783 | 3996 | 4057 | 1216 | 1236 |
| 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 |
| O43166 | 1125 | 1173 | 1 | 1804 | Chain | ID=PRO_0000056746;Note=Signal-induced proliferation-associated 1-like protein 1 |
| O43166 | 1125 | 1173 | 1154 | 1157 | Compositional bias | Note=Poly-Ser |
| O43166 | 1125 | 1173 | 1127 | 1127 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C0T5 |
| O43166 | 1125 | 1173 | 1149 | 1149 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O43166 | 1125 | 1173 | 1170 | 1170 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O43166 | 1216 | 1236 | 1216 | 1236 | Alternative sequence | ID=VSP_010917;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9858596;Dbxref=PMID:14702039,PMID:9858596 |
| O43166 | 1216 | 1236 | 1 | 1804 | Chain | ID=PRO_0000056746;Note=Signal-induced proliferation-associated 1-like protein 1 |
| 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 |
| O43166 | 1035 | 1124 | 1 | 1804 | Chain | ID=PRO_0000056746;Note=Signal-induced proliferation-associated 1-like protein 1 |
| O43166 | 1035 | 1124 | 967 | 1045 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| O43166 | 1035 | 1124 | 1078 | 1078 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O43166 | 1035 | 1124 | 1087 | 1087 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O43166 | 1035 | 1124 | 1116 | 1116 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O43166 | 1125 | 1173 | 1 | 1804 | Chain | ID=PRO_0000056746;Note=Signal-induced proliferation-associated 1-like protein 1 |
| O43166 | 1125 | 1173 | 1154 | 1157 | Compositional bias | Note=Poly-Ser |
| O43166 | 1125 | 1173 | 1127 | 1127 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C0T5 |
| O43166 | 1125 | 1173 | 1149 | 1149 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O43166 | 1125 | 1173 | 1170 | 1170 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O43166 | 1216 | 1236 | 1216 | 1236 | Alternative sequence | ID=VSP_010917;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9858596;Dbxref=PMID:14702039,PMID:9858596 |
| O43166 | 1216 | 1236 | 1 | 1804 | Chain | ID=PRO_0000056746;Note=Signal-induced proliferation-associated 1-like protein 1 |
| 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 |
| O43166 | 1125 | 1173 | 1 | 1804 | Chain | ID=PRO_0000056746;Note=Signal-induced proliferation-associated 1-like protein 1 |
| O43166 | 1125 | 1173 | 1154 | 1157 | Compositional bias | Note=Poly-Ser |
| O43166 | 1125 | 1173 | 1127 | 1127 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8C0T5 |
| O43166 | 1125 | 1173 | 1149 | 1149 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O43166 | 1125 | 1173 | 1170 | 1170 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| O43166 | 1216 | 1236 | 1216 | 1236 | Alternative sequence | ID=VSP_010917;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9858596;Dbxref=PMID:14702039,PMID:9858596 |
| O43166 | 1216 | 1236 | 1 | 1804 | Chain | ID=PRO_0000056746;Note=Signal-induced proliferation-associated 1-like protein 1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SIPA1L1 |
| 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 SIPA1L1 |
| - 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 SIPA1L1 |
| 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 |
| ADstage | MSBB | IFG | exon_skip_240124 | 5.124634e-01 | 5.300561e-03 | chr14 | + | 71529325 | 71529370 | 71576535 | 71576587 | 71587571 | 71587622 |
| CDR | MSBB | IFG | exon_skip_240124 | 4.006770e-01 | 3.460412e-02 | chr14 | + | 71529325 | 71529370 | 71576535 | 71576587 | 71587571 | 71587622 |
| CDR | MSBB | IFG | exon_skip_257793 | 3.791080e-01 | 4.663877e-02 | chr14 | + | 71672348 | 71672622 | 71685362 | 71685631 | 71698981 | 71699127 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SIPA1L1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_295174 | rs17092070 | chr14:71656291 | 3.721525e-04 | 2.682839e-02 |
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Correlation with RNA binding proteins (RBPs) for SIPA1L1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SRSF2 | exon_skip_295174 | 4.543923e-01 | 2.009543e-09 |
| CB | HNRNPA0 | exon_skip_295174 | 4.005278e-01 | 1.842576e-07 |
| CB | HNRNPDL | exon_skip_295174 | 5.398253e-01 | 2.493027e-13 |
| CB | HNRNPD | exon_skip_295174 | 4.715221e-01 | 4.017373e-10 |
| CB | RALYL | exon_skip_295174 | 4.564581e-01 | 1.662695e-09 |
| CB | SRSF9 | exon_skip_295174 | 4.711469e-01 | 4.165558e-10 |
| DLPFC | RBMS2 | exon_skip_295174 | -4.282534e-01 | 1.760218e-15 |
| FL | SRSF2 | exon_skip_295174 | 5.560142e-01 | 4.460229e-16 |
| FL | SRSF11 | exon_skip_295174 | 4.630040e-01 | 5.282181e-11 |
| FL | HNRNPA0 | exon_skip_295174 | 4.984667e-01 | 9.279703e-13 |
| FL | HNRNPDL | exon_skip_295174 | 4.236847e-01 | 2.799807e-09 |
| FL | RALYL | exon_skip_295174 | 5.653734e-01 | 1.115122e-16 |
| FL | HNRNPL | exon_skip_295174 | 4.378173e-01 | 7.120913e-10 |
| FL | SRSF9 | exon_skip_295174 | 4.607752e-01 | 6.707228e-11 |
| HCC | RBMS2 | exon_skip_295174 | -5.122339e-01 | 1.570409e-19 |
| IFG | DAZAP1 | exon_skip_244187 | -4.887317e-01 | 8.315155e-03 |
| IFG | ENOX1 | exon_skip_240124 | -4.527611e-01 | 1.554953e-02 |
| IFG | IGF2BP3 | exon_skip_295174 | -4.191474e-01 | 2.640732e-02 |
| PCC | RBMS2 | exon_skip_295174 | -6.306945e-01 | 1.398027e-24 |
| PCC | RALYL | exon_skip_295174 | 4.339497e-01 | 5.238505e-11 |
| PG | SRSF2 | exon_skip_295174 | 5.764175e-01 | 9.586660e-15 |
| PG | SRSF11 | exon_skip_295174 | 5.202764e-01 | 7.551224e-12 |
| PG | ENOX1 | exon_skip_295174 | 5.001782e-01 | 6.189158e-11 |
| PG | HNRNPA0 | exon_skip_295174 | 6.927609e-01 | 6.581764e-23 |
| PG | HNRNPDL | exon_skip_295174 | 5.425141e-01 | 6.234061e-13 |
| PG | HNRNPD | exon_skip_295174 | 5.081842e-01 | 2.721616e-11 |
| PG | RALYL | exon_skip_295174 | 7.403354e-01 | 1.752881e-27 |
| PG | HNRNPL | exon_skip_295174 | 6.671434e-01 | 8.551204e-21 |
| PG | CELF1 | exon_skip_295174 | 5.817368e-01 | 4.763642e-15 |
| PG | SRSF9 | exon_skip_295174 | 5.646058e-01 | 4.333626e-14 |
| STG | HNRNPA0 | exon_skip_295174 | 4.197328e-01 | 1.603982e-04 |
| STG | RALYL | exon_skip_295174 | 4.146585e-01 | 1.959873e-04 |
| TC | SRSF2 | exon_skip_295174 | 5.019564e-01 | 2.121835e-11 |
| TC | ENOX1 | exon_skip_295174 | 4.479523e-01 | 4.037194e-09 |
| TC | HNRNPA0 | exon_skip_295174 | 7.278544e-01 | 3.511686e-27 |
| TC | HNRNPDL | exon_skip_295174 | 4.785666e-01 | 2.305941e-10 |
| TC | HNRNPD | exon_skip_295174 | 6.219132e-01 | 3.536256e-18 |
| TC | RALYL | exon_skip_295174 | 8.654224e-01 | 2.231284e-48 |
| TC | CELF1 | exon_skip_295174 | 5.930398e-01 | 2.759752e-16 |
| TC | SRSF9 | exon_skip_295174 | 4.472028e-01 | 4.315262e-09 |
| TC | SRSF5 | exon_skip_295174 | 4.210499e-01 | 3.996119e-08 |
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RelatedDrugs for SIPA1L1 |
| 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 SIPA1L1 |
| 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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