|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for INPP5E |
 Gene summary |
| Gene information | Gene symbol | INPP5E | Gene ID | 56623 |
| Gene name | inositol polyphosphate-5-phosphatase E | |
| Synonyms | CORS1|CPD4|JBTS1|MORMS|PPI5PIV|pharbin | |
| Cytomap | 9q34.3 | |
| Type of gene | protein-coding | |
| Description | 72 kDa inositol polyphosphate 5-phosphatasephosphatidylinositol polyphosphate 5-phosphatase type IVphosphatidylinositol-4,5-bisphosphate 5-phosphatase | |
| Modification date | 20180522 | |
| UniProtAcc | Q9NRR6 | |
| Context | PubMed: INPP5E [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 |
Top |
Exon skipping events across known transcript of Ensembl for INPP5E 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. |
 |
Top |
Gene isoform structures and expression levels for INPP5E |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for INPP5E |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_508275 | 9 | 139323070:139324259:139324728:139324865:139325453:139325546 | 139324728:139324865 | ENSG00000148384.11 | ENST00000371712.3 |
| exon_skip_508283 | 9 | 139326275:139326437:139326930:139327038:139327407:139327527 | 139326930:139327038 | ENSG00000148384.11 | ENST00000371712.3 |
| exon_skip_508285 | 9 | 139326930:139327038:139327407:139327527:139327606:139327629 | 139327407:139327527 | ENSG00000148384.11 | ENST00000371712.3 |
| exon_skip_508286 | 9 | 139327606:139327731:139328488:139328586:139329191:139329315 | 139328488:139328586 | ENSG00000148384.11 | ENST00000371712.3 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for INPP5E |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_508275 | 9 | 139323070:139324259:139324728:139324865:139325453:139325546 | 139324728:139324865 | ENSG00000148384.11 | ENST00000371712.3 |
| exon_skip_508283 | 9 | 139326275:139326437:139326930:139327038:139327407:139327527 | 139326930:139327038 | ENSG00000148384.11 | ENST00000371712.3 |
| exon_skip_508285 | 9 | 139326930:139327038:139327407:139327527:139327606:139327629 | 139327407:139327527 | ENSG00000148384.11 | ENST00000371712.3 |
| exon_skip_508286 | 9 | 139327606:139327731:139328488:139328586:139329191:139329315 | 139328488:139328586 | ENSG00000148384.11 | ENST00000371712.3 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for INPP5E |
| 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 |
| ENST00000371712 | 139324728 | 139324865 | Frame-shift |
| ENST00000371712 | 139328488 | 139328586 | Frame-shift |
| ENST00000371712 | 139326930 | 139327038 | In-frame |
| ENST00000371712 | 139327407 | 139327527 | 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 |
| ENST00000371712 | 139324728 | 139324865 | Frame-shift |
| ENST00000371712 | 139328488 | 139328586 | Frame-shift |
| ENST00000371712 | 139326930 | 139327038 | In-frame |
| ENST00000371712 | 139327407 | 139327527 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for INPP5E |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000371712 | 3411 | 644 | 139327407 | 139327527 | 1563 | 1682 | 386 | 426 |
| ENST00000371712 | 3411 | 644 | 139326930 | 139327038 | 1683 | 1790 | 426 | 462 |
| 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 |
| ENST00000371712 | 3411 | 644 | 139327407 | 139327527 | 1563 | 1682 | 386 | 426 |
| ENST00000371712 | 3411 | 644 | 139326930 | 139327038 | 1683 | 1790 | 426 | 462 |
| 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 |
| Q9NRR6 | 386 | 426 | 389 | 399 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XSW |
| Q9NRR6 | 386 | 426 | 402 | 413 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XSW |
| Q9NRR6 | 386 | 426 | 416 | 424 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XSW |
| Q9NRR6 | 386 | 426 | 1 | 641 | Chain | ID=PRO_0000209747;Note=72 kDa inositol polyphosphate 5-phosphatase;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:24166846;Dbxref=PMID:24166846 |
| Q9NRR6 | 386 | 426 | 426 | 426 | Natural variant | ID=VAR_077250;Note=In JBTS1. T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23386033;Dbxref=PMID:23386033 |
| Q9NRR6 | 426 | 462 | 450 | 452 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XSW |
| Q9NRR6 | 426 | 462 | 1 | 641 | Chain | ID=PRO_0000209747;Note=72 kDa inositol polyphosphate 5-phosphatase;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:24166846;Dbxref=PMID:24166846 |
| Q9NRR6 | 426 | 462 | 432 | 445 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XSW |
| Q9NRR6 | 426 | 462 | 457 | 459 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XSW |
| Q9NRR6 | 426 | 462 | 426 | 426 | Natural variant | ID=VAR_077250;Note=In JBTS1. T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23386033;Dbxref=PMID:23386033 |
| Q9NRR6 | 426 | 462 | 435 | 435 | Natural variant | ID=VAR_063013;Note=In JBTS1%3B severe reduction of activity. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19668216,ECO:0000269|PubMed:23386033;Dbxref=dbSNP:rs121918129,PMID:19668216,PMID:23386033 |
| 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 |
| Q9NRR6 | 386 | 426 | 389 | 399 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XSW |
| Q9NRR6 | 386 | 426 | 402 | 413 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XSW |
| Q9NRR6 | 386 | 426 | 416 | 424 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XSW |
| Q9NRR6 | 386 | 426 | 1 | 641 | Chain | ID=PRO_0000209747;Note=72 kDa inositol polyphosphate 5-phosphatase;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:24166846;Dbxref=PMID:24166846 |
| Q9NRR6 | 386 | 426 | 426 | 426 | Natural variant | ID=VAR_077250;Note=In JBTS1. T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23386033;Dbxref=PMID:23386033 |
| Q9NRR6 | 426 | 462 | 450 | 452 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XSW |
| Q9NRR6 | 426 | 462 | 1 | 641 | Chain | ID=PRO_0000209747;Note=72 kDa inositol polyphosphate 5-phosphatase;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:24166846;Dbxref=PMID:24166846 |
| Q9NRR6 | 426 | 462 | 432 | 445 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XSW |
| Q9NRR6 | 426 | 462 | 457 | 459 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2XSW |
| Q9NRR6 | 426 | 462 | 426 | 426 | Natural variant | ID=VAR_077250;Note=In JBTS1. T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23386033;Dbxref=PMID:23386033 |
| Q9NRR6 | 426 | 462 | 435 | 435 | Natural variant | ID=VAR_063013;Note=In JBTS1%3B severe reduction of activity. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19668216,ECO:0000269|PubMed:23386033;Dbxref=dbSNP:rs121918129,PMID:19668216,PMID:23386033 |
Top |
SNVs in the skipped exons for INPP5E |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_508275 | 139324729 | 139324865 | 139324800 | 139324800 | Frame_Shift_Del | G | - | p.P577fs |
| UCS | TCGA-N9-A4Q4-01 | exon_skip_508285 | 139327408 | 139327527 | 139327477 | 139327487 | Frame_Shift_Del | TGGTCTTGATC | - | p.401_404del |
| UCS | TCGA-N9-A4Q4-01 | exon_skip_508285 | 139327408 | 139327527 | 139327477 | 139327487 | Frame_Shift_Del | TGGTCTTGATC | - | p.QIKTK400fs |
| - 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 |
| HEC6_ENDOMETRIUM | 139327408 | 139327527 | 139327444 | 139327445 | Frame_Shift_Ins | - | A | p.G415fs |
| LNZ308_CENTRAL_NERVOUS_SYSTEM | 139328489 | 139328586 | 139328578 | 139328579 | Frame_Shift_Ins | - | G | p.P315fs |
| HEC1B_ENDOMETRIUM | 139324729 | 139324865 | 139324756 | 139324756 | Missense_Mutation | C | T | p.R592Q |
| SNU1040_LARGE_INTESTINE | 139324729 | 139324865 | 139324777 | 139324777 | Missense_Mutation | C | T | p.R585H |
| SNU175_LARGE_INTESTINE | 139324729 | 139324865 | 139324859 | 139324859 | Missense_Mutation | C | T | p.V558I |
| SNU407_LARGE_INTESTINE | 139326931 | 139327038 | 139326942 | 139326942 | Missense_Mutation | C | T | p.R459H |
| BT549_BREAST | 139327408 | 139327527 | 139327422 | 139327422 | Missense_Mutation | G | A | p.T422M |
| GP2D_LARGE_INTESTINE | 139327408 | 139327527 | 139327423 | 139327423 | Missense_Mutation | T | C | p.T422A |
| GP5D_LARGE_INTESTINE | 139327408 | 139327527 | 139327423 | 139327423 | Missense_Mutation | T | C | p.T422A |
| 2313287_STOMACH | 139327408 | 139327527 | 139327432 | 139327432 | Missense_Mutation | G | T | p.L419I |
| TOV112D_OVARY | 139327408 | 139327527 | 139327489 | 139327489 | Missense_Mutation | G | C | p.Q400E |
| CORL279_LUNG | 139328489 | 139328586 | 139328555 | 139328555 | Missense_Mutation | A | G | p.L323P |
| ISTSL1_LUNG | 139328489 | 139328586 | 139328489 | 139328489 | Splice_Site | C | G | p.R345T |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for INPP5E |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for INPP5E |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for INPP5E |
Top |
RelatedDrugs for INPP5E |
| 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 |
Top |
RelatedDiseases for INPP5E |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| INPP5E | C0431399 | Familial aplasia of the vermis | 3 | CTD_human;ORPHANET;UNIPROT |
| INPP5E | C0008780 | Ciliary Motility Disorders | 2 | CTD_human |
| INPP5E | C0015398 | Eye Diseases, Hereditary | 1 | CTD_human |
| INPP5E | C0028754 | Obesity | 1 | CTD_human |
| INPP5E | C0030846 | Penile Diseases | 1 | CTD_human |
| INPP5E | C3714756 | Intellectual Disability | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|