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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 INPP5K |
 Gene summary |
| Gene information | Gene symbol | INPP5K | Gene ID | 51763 |
| Gene name | inositol polyphosphate-5-phosphatase K | |
| Synonyms | MDCCAID|PPS|SKIP | |
| Cytomap | 17p13.3 | |
| Type of gene | protein-coding | |
| Description | inositol polyphosphate 5-phosphatase Kphosphatidylinositol-3,4,5-trisphosphate 5-phosphatasephosphatidylinositol-4,5-bisphosphate 5-phosphataseskeletal muscle and kidney-enriched inositol phosphatase | |
| Modification date | 20200327 | |
| 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 |
| INPP5K | GO:0006469 | negative regulation of protein kinase activity | 12556481 |
| INPP5K | GO:0010801 | negative regulation of peptidyl-threonine phosphorylation | 12556481 |
| INPP5K | GO:0010829 | negative regulation of glucose transmembrane transport | 12556481 |
| INPP5K | GO:0016311 | dephosphorylation | 21712384 |
| INPP5K | GO:0032869 | cellular response to insulin stimulus | 12556481 |
| INPP5K | GO:0033137 | negative regulation of peptidyl-serine phosphorylation | 12556481 |
| INPP5K | GO:0043407 | negative regulation of MAP kinase activity | 12556481 |
| INPP5K | GO:0043922 | negative regulation by host of viral transcription | 18774950 |
| INPP5K | GO:0045719 | negative regulation of glycogen biosynthetic process | 12556481 |
| INPP5K | GO:0045869 | negative regulation of single stranded viral RNA replication via double stranded DNA intermediate | 18774950 |
| INPP5K | GO:0046627 | negative regulation of insulin receptor signaling pathway | 12556481 |
| INPP5K | GO:0046855 | inositol phosphate dephosphorylation | 12536145 |
| INPP5K | GO:0046856 | phosphatidylinositol dephosphorylation | 12536145|12556481 |
| INPP5K | GO:0051497 | negative regulation of stress fiber assembly | 12556481 |
| INPP5K | GO:0051898 | negative regulation of protein kinase B signaling | 12556481 |
| INPP5K | GO:0051926 | negative regulation of calcium ion transport | 12556481 |
| INPP5K | GO:0071356 | cellular response to tumor necrosis factor | 21712384 |
| INPP5K | GO:0071364 | cellular response to epidermal growth factor stimulus | 21712384 |
| INPP5K | GO:0090315 | negative regulation of protein targeting to membrane | 12556481 |
| INPP5K | GO:0097178 | ruffle assembly | 12556481 |
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Gene structures and expression levels for INPP5K |
| 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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ENSG00000132376
| 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 | UP | ENST00000449479.5 | INPP5K-206:protein_coding:INPP5K | 5.566999e+00 | 1.468510e+00 | 6.995191e-03 | 2.592988e-02 |
| 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 INPP5K |
| 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_100279 | chr17 | 1513872:1513979:1515569:1515585:1515888:1516118 | 1515569:1515585 |
| exon_skip_112340 | chr17 | 1515427:1515585:1515888:1516118:1516456:1516661 | 1515888:1516118 |
| exon_skip_125593 | chr17 | 1515569:1515585:1515888:1516118:1516456:1516582 | 1515888:1516118 |
| exon_skip_130489 | chr17 | 1507086:1507089:1508115:1508226:1509178:1509353 | 1508115:1508226 |
| exon_skip_144950 | chr17 | 1509715:1509799:1513453:1513554:1513872:1513979 | 1513453:1513554 |
| exon_skip_160373 | chr17 | 1513872:1513979:1515888:1516118:1516456:1516582 | 1515888:1516118 |
| exon_skip_165446 | chr17 | 1513872:1513979:1515427:1515585:1516456:1516582 | 1515427:1515585 |
| exon_skip_178327 | chr17 | 1513872:1513979:1515427:1515585:1516456:1516661 | 1515427:1515585 |
| exon_skip_194266 | chr17 | 1507086:1507089:1508115:1508226:1509168:1509353 | 1508115:1508226 |
| exon_skip_210283 | chr17 | 1498079:1498122:1506980:1507089:1508115:1508226 | 1506980:1507089 |
| exon_skip_222186 | chr17 | 1496319:1496402:1496666:1496803:1497936:1498122 | 1496666:1496803 |
| exon_skip_22930 | chr17 | 1509715:1509799:1513872:1513979:1516456:1516582 | 1513872:1513979 |
| exon_skip_237425 | chr17 | 1509715:1509799:1513453:1513561:1513872:1513979 | 1513453:1513561 |
| exon_skip_243954 | chr17 | 1513872:1513979:1515427:1515585:1515888:1516118 | 1515427:1515585 |
| exon_skip_264845 | chr17 | 1509341:1509353:1509683:1509799:1513453:1513512 | 1509683:1509799 |
| exon_skip_290249 | chr17 | 1509683:1509799:1513872:1513979:1516456:1516618 | 1513872:1513979 |
| exon_skip_291744 | chr17 | 1513872:1513979:1515888:1516118:1516456:1516612 | 1515888:1516118 |
| exon_skip_294480 | chr17 | 1509341:1509353:1509683:1509799:1516456:1516582 | 1509683:1509799 |
| exon_skip_55938 | chr17 | 1509341:1509353:1509683:1509799:1513872:1513979 | 1509683:1509799 |
| 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 INPP5K |
| 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 |
| ENST00000421807 | 1513453 | 1513561 | Frame-shift |
| 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 |
| ENST00000421807 | 1513453 | 1513561 | Frame-shift |
| 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 |
| ENST00000421807 | 1506980 | 1507089 | Frame-shift |
| ENST00000421807 | 1508115 | 1508226 | Frame-shift |
| ENST00000421807 | 1513453 | 1513561 | Frame-shift |
| ENST00000421807 | 1496666 | 1496803 | In-frame |
| ENST00000421807 | 1509683 | 1509799 | In-frame |
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Infer the effects of exon skipping event on protein functional features for INPP5K |
p-ENSG00000132376_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 |
| 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 |
| ENST00000421807 | 3005 | 448 | 1509683 | 1509799 | 651 | 766 | 87 | 125 |
| ENST00000421807 | 3005 | 448 | 1496666 | 1496803 | 1353 | 1489 | 321 | 366 |
| 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 |
| 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 |
| Q9BT40 | 87 | 125 | 1 | 448 | Chain | ID=PRO_0000209727;Note=Inositol polyphosphate 5-phosphatase K |
| Q9BT40 | 87 | 125 | 93 | 93 | Natural variant | ID=VAR_079000;Note=In MDCCAID%3B decreased phosphatidylinositol-4%2C5-bisphosphate 5-phosphatase activity. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28190459;Dbxref=dbSNP:rs1060505039,PMID:28190459 |
| Q9BT40 | 87 | 125 | 16 | 318 | Region | Note=Catalytic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BT40 | 87 | 125 | 120 | 120 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9BT40 | 321 | 366 | 1 | 448 | Chain | ID=PRO_0000209727;Note=Inositol polyphosphate 5-phosphatase K |
| Q9BT40 | 321 | 366 | 349 | 349 | Mutagenesis | Note=No effect on EGF-induced ruffle localization. Y->A%2CF;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12536145;Dbxref=PMID:12536145 |
| Q9BT40 | 321 | 366 | 361 | 361 | Mutagenesis | Note=Significant decrease in EGF-induced ruffle localization. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12536145;Dbxref=PMID:12536145 |
| Q9BT40 | 321 | 366 | 362 | 362 | Mutagenesis | Note=Significant decrease in EGF-induced ruffle localization. W->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12536145;Dbxref=PMID:12536145 |
| Q9BT40 | 321 | 366 | 363 | 363 | Natural variant | ID=VAR_079005;Note=In MDCCAID%3B shows a diffuse perinuclear mislocalization. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28190456;Dbxref=dbSNP:rs993849342,PMID:28190456 |
| Q9BT40 | 321 | 366 | 318 | 448 | Region | Note=Required for interaction with GPR78 and PAK1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26940976;Dbxref=PMID:26940976 |
| Q9BT40 | 321 | 366 | 321 | 448 | Region | Note=Required for ruffle localization |
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3'-UTR located exon skipping events that lost miRNA binding sites in INPP5K |
| 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 INPP5K |
| - 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 INPP5K |
| 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 INPP5K |
| 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 INPP5K |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for INPP5K |
| 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 INPP5K |
| 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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