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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 INPPL1 |
Gene summary |
Gene information | Gene symbol | INPPL1 | Gene ID | 3636 |
Gene name | inositol polyphosphate phosphatase like 1 | |
Synonyms | OPSMD|SHIP2 | |
Cytomap | 11q13.4 | |
Type of gene | protein-coding | |
Description | phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 251C proteinINPPL-1SH2 domain-containing inositol-5'-phosphatase 2SHIP-2protein 51C | |
Modification date | 20200313 | |
UniProtAcc | A0A0A0MTP6, | |
Context | - 31780579(Pan-SHIP1/2 Inhibitors Promote Microglia Effector Functions Essential for CNS Homeostasis) |
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 INPPL1 |
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. |
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 | ENST00000538751.5 | INPPL1-207:protein_coding:INPPL1 | 1.295872e+02 | 1.394538e+00 | 1.967322e-04 | 1.642968e-02 |
STG | UP | ENST00000545355.5 | INPPL1-216:retained_intron:INPPL1 | 1.640660e+01 | 9.480254e-01 | 3.959081e-04 | 2.415069e-02 |
CB | DOWN | ENST00000320683.7 | INPPL1-202:protein_coding:INPPL1 | 7.225685e+00 | -9.058688e-01 | 1.811333e-04 | 1.223923e-03 |
TC | UP | ENST00000543234.1 | INPPL1-214:protein_coding:INPPL1 | 3.325734e+00 | 8.635904e-01 | 4.561852e-06 | 1.384010e-04 |
TC | UP | ENST00000540329.5 | INPPL1-208:protein_coding:INPPL1 | 1.552333e+00 | 1.520161e+00 | 1.546720e-05 | 3.667021e-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 INPPL1 |
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_106093 | chr11 | 72235296:72235451:72235675:72235753:72235846:72235946 | 72235675:72235753 |
exon_skip_11892 | chr11 | 72229090:72229230:72229465:72229558:72229924:72230019 | 72229465:72229558 |
exon_skip_189549 | chr11 | 72237709:72237796:72238042:72238175:72238263:72238431 | 72238042:72238175 |
exon_skip_201942 | chr11 | 72234527:72234615:72235116:72235203:72235296:72235424 | 72235116:72235203 |
exon_skip_253466 | chr11 | 72237709:72237796:72238042:72238175:72238263:72238527 | 72238042:72238175 |
exon_skip_263420 | chr11 | 72237206:72237796:72238042:72238175:72238263:72238527 | 72238042:72238175 |
exon_skip_275560 | chr11 | 72233075:72233163:72233441:72233522:72233655:72233744 | 72233441:72233522 |
exon_skip_276725 | chr11 | 72237709:72237796:72238042:72238175:72238263:72238440 | 72238042:72238175 |
exon_skip_27902 | chr11 | 72234527:72234615:72235116:72235203:72235296:72235405 | 72235116:72235203 |
exon_skip_293224 | chr11 | 72225069:72225166:72228190:72228253:72228348:72228450 | 72228190:72228253 |
exon_skip_295291 | chr11 | 72229465:72229558:72229663:72229752:72229924:72230019 | 72229663:72229752 |
exon_skip_38514 | chr11 | 72228789:72228847:72229090:72229230:72229465:72229558 | 72229090:72229230 |
exon_skip_63417 | chr11 | 72229465:72229558:72229663:72229752:72229924:72229984 | 72229663:72229752 |
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 INPPL1 |
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 |
ENST00000298229 | 72228190 | 72228253 | Frame-shift |
ENST00000298229 | 72233441 | 72233522 | Frame-shift |
ENST00000298229 | 72235116 | 72235203 | Frame-shift |
ENST00000298229 | 72235675 | 72235753 | Frame-shift |
ENST00000298229 | 72238042 | 72238175 | Frame-shift |
ENST00000298229 | 72229090 | 72229230 | In-frame |
ENST00000298229 | 72229663 | 72229752 | 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 |
ENST00000298229 | 72233441 | 72233522 | Frame-shift |
ENST00000298229 | 72235675 | 72235753 | Frame-shift |
ENST00000298229 | 72238042 | 72238175 | Frame-shift |
ENST00000298229 | 72229090 | 72229230 | 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 |
ENST00000298229 | 72228190 | 72228253 | Frame-shift |
ENST00000298229 | 72233441 | 72233522 | Frame-shift |
ENST00000298229 | 72235116 | 72235203 | Frame-shift |
ENST00000298229 | 72235675 | 72235753 | Frame-shift |
ENST00000298229 | 72238042 | 72238175 | Frame-shift |
ENST00000298229 | 72229090 | 72229230 | In-frame |
ENST00000298229 | 72229663 | 72229752 | In-frame |
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Infer the effects of exon skipping event on protein functional features for INPPL1 |
p-ENSG00000165458_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 |
ENST00000298229 | 4750 | 1258 | 72229090 | 72229230 | 724 | 863 | 173 | 219 |
ENST00000298229 | 4750 | 1258 | 72229663 | 72229752 | 959 | 1047 | 251 | 281 |
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 |
ENST00000298229 | 4750 | 1258 | 72229090 | 72229230 | 724 | 863 | 173 | 219 |
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 |
ENST00000298229 | 4750 | 1258 | 72229090 | 72229230 | 724 | 863 | 173 | 219 |
ENST00000298229 | 4750 | 1258 | 72229663 | 72229752 | 959 | 1047 | 251 | 281 |
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 |
O15357 | 173 | 219 | 1 | 242 | Alternative sequence | ID=VSP_027985;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8530088;Dbxref=PMID:8530088 |
O15357 | 173 | 219 | 1 | 1258 | Chain | ID=PRO_0000302870;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate 5-phosphatase 2 |
O15357 | 251 | 281 | 1 | 1258 | Chain | ID=PRO_0000302870;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate 5-phosphatase 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 |
O15357 | 173 | 219 | 1 | 242 | Alternative sequence | ID=VSP_027985;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8530088;Dbxref=PMID:8530088 |
O15357 | 173 | 219 | 1 | 1258 | Chain | ID=PRO_0000302870;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate 5-phosphatase 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 |
O15357 | 173 | 219 | 1 | 242 | Alternative sequence | ID=VSP_027985;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8530088;Dbxref=PMID:8530088 |
O15357 | 173 | 219 | 1 | 1258 | Chain | ID=PRO_0000302870;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate 5-phosphatase 2 |
O15357 | 251 | 281 | 1 | 1258 | Chain | ID=PRO_0000302870;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate 5-phosphatase 2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in INPPL1 |
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 INPPL1 |
- 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 INPPL1 |
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 INPPL1 |
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 INPPL1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | SAMD4A | exon_skip_276725 | 4.171469e-01 | 4.501338e-08 |
DLPFC | RBM3 | exon_skip_276725 | -5.109076e-01 | 1.468902e-17 |
TC | SAMD4A | exon_skip_189549 | 4.396426e-01 | 6.011884e-09 |
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RelatedDrugs for INPPL1 |
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 INPPL1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |