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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180522 | |
| UniProtAcc | O15357 | |
| Context | PubMed: INPPL1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for INPPL1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for INPPL1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for INPPL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_63171 | 11 | 71936112:71936210:71939233:71939297:71939391:71939542 | 71939233:71939297 | ENSG00000165458.9 | ENST00000298229.2,ENST00000541756.1,ENST00000541544.1 |
| exon_skip_63189 | 11 | 71939770:71939891:71940133:71940274:71940508:71940602 | 71940133:71940274 | ENSG00000165458.9 | ENST00000298229.2,ENST00000538751.1,ENST00000541756.1,ENST00000540329.1 |
| exon_skip_63192 | 11 | 71940133:71940274:71940508:71940602:71940967:71941063 | 71940508:71940602 | ENSG00000165458.9 | ENST00000540329.1 |
| exon_skip_63195 | 11 | 71940508:71940602:71940706:71940796:71940967:71941028 | 71940706:71940796 | ENSG00000165458.9 | ENST00000298229.2,ENST00000538751.1,ENST00000541756.1 |
| exon_skip_63197 | 11 | 71942185:71942233:71942541:71942659:71943283:71943380 | 71942541:71942659 | ENSG00000165458.9 | ENST00000298229.2,ENST00000538751.1,ENST00000541756.1,ENST00000537755.1 |
| exon_skip_63202 | 11 | 71944118:71944207:71944484:71944566:71944698:71944788 | 71944484:71944566 | ENSG00000165458.9 | ENST00000541303.1,ENST00000298229.2,ENST00000538751.1,ENST00000541756.1 |
| exon_skip_63204 | 11 | 71945570:71945659:71946159:71946247:71946339:71946449 | 71946159:71946247 | ENSG00000165458.9 | ENST00000545355.1,ENST00000541303.1,ENST00000298229.2,ENST00000538751.1,ENST00000541756.1 |
| exon_skip_63209 | 11 | 71946339:71946495:71946718:71946797:71946889:71946990 | 71946718:71946797 | ENSG00000165458.9 | ENST00000545355.1,ENST00000298229.2,ENST00000538751.1,ENST00000541756.1 |
| exon_skip_63213 | 11 | 71948730:71948840:71949085:71949219:71949306:71949484 | 71949085:71949219 | ENSG00000165458.9 | ENST00000298229.2,ENST00000538751.1,ENST00000541756.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for INPPL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_63171 | 11 | 71936112:71936210:71939233:71939297:71939391:71939542 | 71939233:71939297 | ENSG00000165458.9 | ENST00000298229.2,ENST00000541756.1,ENST00000541544.1 |
| exon_skip_63189 | 11 | 71939770:71939891:71940133:71940274:71940508:71940602 | 71940133:71940274 | ENSG00000165458.9 | ENST00000298229.2,ENST00000541756.1,ENST00000538751.1,ENST00000540329.1 |
| exon_skip_63192 | 11 | 71940133:71940274:71940508:71940602:71940967:71941063 | 71940508:71940602 | ENSG00000165458.9 | ENST00000540329.1 |
| exon_skip_63195 | 11 | 71940508:71940602:71940706:71940796:71940967:71941028 | 71940706:71940796 | ENSG00000165458.9 | ENST00000298229.2,ENST00000541756.1,ENST00000538751.1 |
| exon_skip_63197 | 11 | 71942185:71942233:71942541:71942659:71943283:71943380 | 71942541:71942659 | ENSG00000165458.9 | ENST00000298229.2,ENST00000541756.1,ENST00000538751.1,ENST00000537755.1 |
| exon_skip_63202 | 11 | 71944118:71944207:71944484:71944566:71944698:71944788 | 71944484:71944566 | ENSG00000165458.9 | ENST00000298229.2,ENST00000541756.1,ENST00000538751.1,ENST00000541303.1 |
| exon_skip_63204 | 11 | 71945570:71945659:71946159:71946247:71946339:71946449 | 71946159:71946247 | ENSG00000165458.9 | ENST00000298229.2,ENST00000541756.1,ENST00000538751.1,ENST00000541303.1,ENST00000545355.1 |
| exon_skip_63209 | 11 | 71946339:71946495:71946718:71946797:71946889:71946990 | 71946718:71946797 | ENSG00000165458.9 | ENST00000298229.2,ENST00000541756.1,ENST00000538751.1,ENST00000545355.1 |
| exon_skip_63213 | 11 | 71948730:71948840:71949085:71949219:71949306:71949484 | 71949085:71949219 | ENSG00000165458.9 | ENST00000298229.2,ENST00000541756.1,ENST00000538751.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000298229 | 71939233 | 71939297 | Frame-shift |
| ENST00000298229 | 71942541 | 71942659 | Frame-shift |
| ENST00000298229 | 71944484 | 71944566 | Frame-shift |
| ENST00000298229 | 71946159 | 71946247 | Frame-shift |
| ENST00000298229 | 71946718 | 71946797 | Frame-shift |
| ENST00000298229 | 71949085 | 71949219 | Frame-shift |
| ENST00000298229 | 71940133 | 71940274 | In-frame |
| ENST00000298229 | 71940706 | 71940796 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000298229 | 71939233 | 71939297 | Frame-shift |
| ENST00000298229 | 71942541 | 71942659 | Frame-shift |
| ENST00000298229 | 71944484 | 71944566 | Frame-shift |
| ENST00000298229 | 71946159 | 71946247 | Frame-shift |
| ENST00000298229 | 71946718 | 71946797 | Frame-shift |
| ENST00000298229 | 71949085 | 71949219 | Frame-shift |
| ENST00000298229 | 71940133 | 71940274 | In-frame |
| ENST00000298229 | 71940706 | 71940796 | In-frame |
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Infer the effects of exon skipping event on protein functional features for INPPL1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 | 71940133 | 71940274 | 723 | 863 | 173 | 219 |
| ENST00000298229 | 4750 | 1258 | 71940706 | 71940796 | 958 | 1047 | 251 | 281 |
| Loci of skipped exons in GTEx 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 | 71940133 | 71940274 | 723 | 863 | 173 | 219 |
| ENST00000298229 | 4750 | 1258 | 71940706 | 71940796 | 958 | 1047 | 251 | 281 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 GTEx. |
| 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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SNVs in the skipped exons for INPPL1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| SKCM | TCGA-EE-A3JI-06 | exon_skip_63171 | 71939234 | 71939297 | 71939239 | 71939240 | Frame_Shift_Del | AG | - | p.63_63del |
| SKCM | TCGA-EE-A3JI-06 | exon_skip_63171 | 71939234 | 71939297 | 71939239 | 71939240 | Frame_Shift_Del | AG | - | p.Q63fs |
| GBM | TCGA-28-5218-01 | exon_skip_63197 | 71942542 | 71942659 | 71942586 | 71942586 | Frame_Shift_Del | C | - | p.V514fs |
| LUSC | TCGA-66-2768-01 | exon_skip_63209 | 71946719 | 71946797 | 71946722 | 71946722 | Frame_Shift_Del | G | - | p.W888fs |
| STAD | TCGA-BR-6452-01 | exon_skip_63209 | 71946719 | 71946797 | 71946764 | 71946764 | Frame_Shift_Del | C | - | p.A902fs |
| UCEC | TCGA-A5-A0G9-01 | exon_skip_63197 | 71942542 | 71942659 | 71942633 | 71942634 | Frame_Shift_Ins | - | G | p.K531fs |
| UCEC | TCGA-A5-A0G9-01 | exon_skip_63197 | 71942542 | 71942659 | 71942633 | 71942634 | Frame_Shift_Ins | - | G | p.V530fs |
| UCEC | TCGA-FI-A2EW-01 | exon_skip_63189 | 71940134 | 71940274 | 71940256 | 71940256 | Nonsense_Mutation | C | A | p.S214* |
| LUSC | TCGA-66-2785-01 | exon_skip_63192 | 71940509 | 71940602 | 71940529 | 71940529 | Nonsense_Mutation | C | G | p.S227* |
| SKCM | TCGA-EE-A2A2-06 | exon_skip_63192 | 71940509 | 71940602 | 71940600 | 71940600 | Nonsense_Mutation | C | T | p.Q251X |
| SKCM | TCGA-EE-A2A2-06 | exon_skip_63192 | 71940509 | 71940602 | 71940600 | 71940600 | Nonsense_Mutation | C | T | p.Q9* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| HCC1428_BREAST | 71940134 | 71940274 | 71940170 | 71940170 | Frame_Shift_Del | C | - | p.Y185fs |
| NCIH1105_LUNG | 71949086 | 71949219 | 71949120 | 71949121 | Frame_Shift_Ins | - | G | p.LG1196fs |
| PANC0327_PANCREAS | 71939234 | 71939297 | 71939238 | 71939238 | Missense_Mutation | C | G | p.Q63E |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71939234 | 71939297 | 71939260 | 71939260 | Missense_Mutation | G | A | p.R70H |
| SU8686_PANCREAS | 71940134 | 71940274 | 71940211 | 71940211 | Missense_Mutation | G | A | p.G199D |
| MCC13_SKIN | 71940134 | 71940274 | 71940234 | 71940234 | Missense_Mutation | C | T | p.L207F |
| KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71940134 | 71940274 | 71940261 | 71940261 | Missense_Mutation | C | T | p.R216W |
| SUM149PT_BREAST | 71940509 | 71940602 | 71940585 | 71940585 | Missense_Mutation | C | T | p.R246C |
| SW954_VULVA | 71940707 | 71940796 | 71940759 | 71940759 | Missense_Mutation | C | T | p.S269L |
| HCT15_LARGE_INTESTINE | 71942542 | 71942659 | 71942549 | 71942549 | Missense_Mutation | T | C | p.M502T |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71942542 | 71942659 | 71942606 | 71942606 | Missense_Mutation | G | A | p.R521H |
| SCC4_UPPER_AERODIGESTIVE_TRACT | 71942542 | 71942659 | 71942624 | 71942624 | Missense_Mutation | C | A | p.T527K |
| SNU1040_LARGE_INTESTINE | 71942542 | 71942659 | 71942647 | 71942647 | Missense_Mutation | G | A | p.A535T |
| HUCCT1_BILIARY_TRACT | 71944485 | 71944566 | 71944515 | 71944515 | Missense_Mutation | C | T | p.R691W |
| MFE296_ENDOMETRIUM | 71944485 | 71944566 | 71944516 | 71944516 | Missense_Mutation | G | A | p.R691Q |
| SKES1_BONE | 71946719 | 71946797 | 71946763 | 71946763 | Missense_Mutation | G | T | p.A902S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 71949086 | 71949219 | 71949096 | 71949096 | Missense_Mutation | T | C | p.L1188P |
| NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71949086 | 71949219 | 71949107 | 71949107 | Missense_Mutation | C | T | p.R1192W |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 71949086 | 71949219 | 71949137 | 71949137 | Missense_Mutation | A | G | p.S1202G |
| HEC1A_ENDOMETRIUM | 71949086 | 71949219 | 71949147 | 71949147 | Missense_Mutation | T | C | p.L1205P |
| HEC1_ENDOMETRIUM | 71949086 | 71949219 | 71949147 | 71949147 | Missense_Mutation | T | C | p.L1205P |
| HEC1B_ENDOMETRIUM | 71949086 | 71949219 | 71949147 | 71949147 | Missense_Mutation | T | C | p.L1205P |
| SW756_CERVIX | 71949086 | 71949219 | 71949157 | 71949157 | Missense_Mutation | C | G | p.I1208M |
| RERFLCAD2_LUNG | 71949086 | 71949219 | 71949177 | 71949177 | Missense_Mutation | A | T | p.E1215V |
| HEC1B_ENDOMETRIUM | 71940707 | 71940796 | 71940716 | 71940716 | Nonsense_Mutation | C | T | p.Q255* |
| KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71942542 | 71942659 | 71942542 | 71942542 | Splice_Site | A | G | p.I500V |
| NCIH2110_LUNG | 71949086 | 71949219 | 71949086 | 71949086 | Splice_Site | G | A | p.A1185T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for INPPL1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for INPPL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for INPPL1 |
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RelatedDrugs for INPPL1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | 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 |
| INPPL1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 2 | CTD_human |
| INPPL1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| INPPL1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| INPPL1 | C0432219 | Opsismodysplasia | 1 | ORPHANET;UNIPROT |
| INPPL1 | C0524620 | Metabolic Syndrome X | 1 | CTD_human |
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