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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 INPP5A |
 Gene summary |
| Gene information | Gene symbol | INPP5A | Gene ID | 3632 |
| Gene name | inositol polyphosphate-5-phosphatase A | |
| Synonyms | 5PTASE | |
| Cytomap | 10q26.3 | |
| Type of gene | protein-coding | |
| Description | type I inositol 1,4,5-trisphosphate 5-phosphatase43 kDa inositol polyphosphate 5-phophataseCTCL tumor antigen HD-CL-02InsP3 5-phosphataseinositol polyphosphate-5-phosphatase, 40kDinositol polyphosphate-5-phosphatase, 40kDainositol trisphosphate-5-ph | |
| Modification date | 20180523 | |
| UniProtAcc | Q14642 | |
| Context | PubMed: INPP5A [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 INPP5A 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 INPP5A |
| 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 INPP5A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_46556 | 10 | 134351642:134351675:134421418:134421460:134459371:134459472 | 134421418:134421460 | ENSG00000068383.14 | ENST00000368593.3 |
| exon_skip_46557 | 10 | 134421429:134421460:134459371:134459472:134463921:134464009 | 134459371:134459472 | ENSG00000068383.14 | ENST00000342652.6,ENST00000368593.3,ENST00000368594.3 |
| exon_skip_46560 | 10 | 134459371:134459472:134463921:134464009:134503895:134503959 | 134463921:134464009 | ENSG00000068383.14 | ENST00000342652.6,ENST00000368593.3,ENST00000368594.3 |
| exon_skip_46562 | 10 | 134463921:134464009:134503895:134503959:134511319:134511423 | 134503895:134503959 | ENSG00000068383.14 | ENST00000342652.6,ENST00000368593.3,ENST00000368594.3 |
| exon_skip_46565 | 10 | 134563274:134563349:134579276:134579350:134591174:134591286 | 134579276:134579350 | ENSG00000068383.14 | ENST00000368593.3,ENST00000368594.3 |
| exon_skip_46566 | 10 | 134579327:134579350:134591174:134591286:134594352:134594421 | 134591174:134591286 | ENSG00000068383.14 | ENST00000368594.3,ENST00000445580.1 |
| exon_skip_46567 | 10 | 134591174:134591286:134594352:134594421:134595364:134595401 | 134594352:134594421 | ENSG00000068383.14 | ENST00000368594.3,ENST00000445580.1 |
| exon_skip_46573 | 10 | 134594352:134594421:134595364:134595401:134595540:134595909 | 134595364:134595401 | ENSG00000068383.14 | ENST00000445580.1 |
| exon_skip_46574 | 10 | 134594352:134594421:134595364:134595452:134595540:134595909 | 134595364:134595452 | ENSG00000068383.14 | ENST00000368594.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for INPP5A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_46556 | 10 | 134351642:134351675:134421418:134421460:134459371:134459472 | 134421418:134421460 | ENSG00000068383.14 | ENST00000368593.3 |
| exon_skip_46557 | 10 | 134421429:134421460:134459371:134459472:134463921:134464009 | 134459371:134459472 | ENSG00000068383.14 | ENST00000368594.3,ENST00000368593.3,ENST00000342652.6 |
| exon_skip_46560 | 10 | 134459371:134459472:134463921:134464009:134503895:134503959 | 134463921:134464009 | ENSG00000068383.14 | ENST00000368594.3,ENST00000368593.3,ENST00000342652.6 |
| exon_skip_46562 | 10 | 134463921:134464009:134503895:134503959:134511319:134511423 | 134503895:134503959 | ENSG00000068383.14 | ENST00000368594.3,ENST00000368593.3,ENST00000342652.6 |
| exon_skip_46565 | 10 | 134563274:134563349:134579276:134579350:134591174:134591286 | 134579276:134579350 | ENSG00000068383.14 | ENST00000368594.3,ENST00000368593.3 |
| exon_skip_46566 | 10 | 134579327:134579350:134591174:134591286:134594352:134594421 | 134591174:134591286 | ENSG00000068383.14 | ENST00000368594.3,ENST00000445580.1 |
| exon_skip_46567 | 10 | 134591174:134591286:134594352:134594421:134595364:134595401 | 134594352:134594421 | ENSG00000068383.14 | ENST00000368594.3,ENST00000445580.1 |
| exon_skip_46573 | 10 | 134594352:134594421:134595364:134595401:134595540:134595909 | 134595364:134595401 | ENSG00000068383.14 | ENST00000445580.1 |
| exon_skip_46574 | 10 | 134594352:134594421:134595364:134595452:134595540:134595909 | 134595364:134595452 | ENSG00000068383.14 | ENST00000368594.3 |
| 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 INPP5A |
| 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 |
| ENST00000368594 | 134595364 | 134595452 | 3UTR-3CDS |
| ENST00000368594 | 134459371 | 134459472 | Frame-shift |
| ENST00000368594 | 134463921 | 134464009 | Frame-shift |
| ENST00000368594 | 134503895 | 134503959 | Frame-shift |
| ENST00000368594 | 134579276 | 134579350 | Frame-shift |
| ENST00000368594 | 134591174 | 134591286 | Frame-shift |
| ENST00000368594 | 134594352 | 134594421 | 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 |
| ENST00000368594 | 134595364 | 134595452 | 3UTR-3CDS |
| ENST00000368594 | 134459371 | 134459472 | Frame-shift |
| ENST00000368594 | 134463921 | 134464009 | Frame-shift |
| ENST00000368594 | 134503895 | 134503959 | Frame-shift |
| ENST00000368594 | 134579276 | 134579350 | Frame-shift |
| ENST00000368594 | 134591174 | 134591286 | Frame-shift |
| ENST00000368594 | 134594352 | 134594421 | In-frame |
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Infer the effects of exon skipping event on protein functional features for INPP5A |
| 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 |
| ENST00000368594 | 2979 | 412 | 134594352 | 134594421 | 1367 | 1435 | 363 | 386 |
| 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 |
| ENST00000368594 | 2979 | 412 | 134594352 | 134594421 | 1367 | 1435 | 363 | 386 |
| 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 |
| Q14642 | 363 | 386 | 1 | 409 | Chain | ID=PRO_0000209719;Note=Type I inositol 1%2C4%2C5-trisphosphate 5-phosphatase |
| 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 |
| Q14642 | 363 | 386 | 1 | 409 | Chain | ID=PRO_0000209719;Note=Type I inositol 1%2C4%2C5-trisphosphate 5-phosphatase |
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SNVs in the skipped exons for INPP5A |
| - 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 |
| STAD | TCGA-BR-8059-01 | exon_skip_46562 | 134503896 | 134503959 | 134503931 | 134503931 | Frame_Shift_Del | A | - | p.L114fs |
| STAD | TCGA-BR-8059-01 | exon_skip_46562 | 134503896 | 134503959 | 134503931 | 134503931 | Frame_Shift_Del | A | - | p.L114X |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_46562 | 134503896 | 134503959 | 134503931 | 134503931 | Frame_Shift_Del | A | - | p.L114fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_46562 | 134503896 | 134503959 | 134503931 | 134503931 | Frame_Shift_Del | A | - | p.L114X |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_46573 | 134595365 | 134595401 | 134595395 | 134595395 | Frame_Shift_Del | G | - | p.G397fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_46574 | 134595365 | 134595452 | 134595395 | 134595395 | Frame_Shift_Del | G | - | p.G397fs |
| COAD | TCGA-AZ-4315-01 | exon_skip_46560 | 134463922 | 134464009 | 134463923 | 134463923 | Nonsense_Mutation | G | T | p.E74X |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_46560 | 134463922 | 134464009 | 134463950 | 134463950 | Nonsense_Mutation | G | T | p.E83* |
| BRCA | TCGA-EW-A1P4-01 | exon_skip_46560 | 134463922 | 134464009 | 134463965 | 134463965 | Nonsense_Mutation | C | T | p.R88* |
| STAD | TCGA-BR-4184-01 | exon_skip_46560 | 134463922 | 134464009 | 134463965 | 134463965 | Nonsense_Mutation | C | T | p.R88* |
| COAD | TCGA-AM-5820-01 | exon_skip_46562 | 134503896 | 134503959 | 134503931 | 134503931 | Nonsense_Mutation | A | - | p.L114X |
| LUAD | TCGA-05-4410-01 | exon_skip_46573 | 134595365 | 134595401 | 134595383 | 134595383 | Nonsense_Mutation | C | T | p.R393* |
| LUAD | TCGA-05-4410-01 | exon_skip_46574 | 134595365 | 134595452 | 134595383 | 134595383 | Nonsense_Mutation | C | T | p.R393* |
| - 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 |
| DV90_LUNG | 134503896 | 134503959 | 134503931 | 134503931 | Frame_Shift_Del | A | - | p.L114fs |
| TOV21G_OVARY | 134503896 | 134503959 | 134503931 | 134503931 | Frame_Shift_Del | A | - | p.L114fs |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134421419 | 134421460 | 134421438 | 134421438 | Missense_Mutation | A | G | p.N32S |
| LIM1215_LARGE_INTESTINE | 134421419 | 134421460 | 134421446 | 134421446 | Missense_Mutation | C | T | p.R35W |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 134459372 | 134459472 | 134459375 | 134459375 | Missense_Mutation | G | C | p.V41L |
| HT115_LARGE_INTESTINE | 134503896 | 134503959 | 134503924 | 134503924 | Missense_Mutation | A | C | p.E112A |
| MFE296_ENDOMETRIUM | 134579277 | 134579350 | 134579304 | 134579304 | Missense_Mutation | G | T | p.V311F |
| HCC44_LUNG | 134591175 | 134591286 | 134591179 | 134591179 | Missense_Mutation | C | T | p.P328S |
| KNS81_CENTRAL_NERVOUS_SYSTEM | 134591175 | 134591286 | 134591180 | 134591180 | Missense_Mutation | C | T | p.P328L |
| KNS81FD_CENTRAL_NERVOUS_SYSTEM | 134591175 | 134591286 | 134591180 | 134591180 | Missense_Mutation | C | T | p.P328L |
| HEC1A_ENDOMETRIUM | 134591175 | 134591286 | 134591225 | 134591225 | Missense_Mutation | G | A | p.R343Q |
| HEC1_ENDOMETRIUM | 134591175 | 134591286 | 134591225 | 134591225 | Missense_Mutation | G | A | p.R343Q |
| HEC1B_ENDOMETRIUM | 134591175 | 134591286 | 134591225 | 134591225 | Missense_Mutation | G | A | p.R343Q |
| RL952_ENDOMETRIUM | 134591175 | 134591286 | 134591282 | 134591282 | Missense_Mutation | T | C | p.L362P |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 134594353 | 134594421 | 134594374 | 134594374 | Missense_Mutation | G | A | p.V371I |
| HEC108_ENDOMETRIUM | 134595365 | 134595401 | 134595395 | 134595395 | Missense_Mutation | G | A | p.G397R |
| HEC108_ENDOMETRIUM | 134595365 | 134595452 | 134595395 | 134595395 | Missense_Mutation | G | A | p.G397R |
| HS618T_FIBROBLAST | 134595365 | 134595452 | 134595437 | 134595437 | Missense_Mutation | G | A | p.V411M |
| LS411N_LARGE_INTESTINE | 134503896 | 134503959 | 134503896 | 134503896 | Splice_Site | G | A | p.A103T |
| NCIH1623_LUNG | 134591175 | 134591286 | 134591285 | 134591285 | Splice_Site | G | T | p.R363L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for INPP5A |
| 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 INPP5A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for INPP5A |
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RelatedDrugs for INPP5A |
| 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 INPP5A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| INPP5A | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| INPP5A | C0036341 | Schizophrenia | 1 | CTD_human |
| INPP5A | C0037274 | Dermatologic disorders | 1 | CTD_human |
| INPP5A | C0311375 | Arsenic Poisoning | 1 | CTD_human |
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