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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 TPTE2 |
 Gene summary |
| Gene information | Gene symbol | TPTE2 | Gene ID | 93492 |
| Gene name | transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 | |
| Synonyms | TPIP | |
| Cytomap | 13q12.11 | |
| Type of gene | protein-coding | |
| Description | phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2PTEN-like inositol lipid phosphataseTPIP lipid phosphataseTPTE and PTEN homologous inositol lipid phosphataselipid phosphatase TPIPtransmembrane phosphoinositide 3-phosphatase and tensin 2-l | |
| Modification date | 20180519 | |
| UniProtAcc | Q6XPS3 | |
| Context | PubMed: TPTE2 [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 TPTE2 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 TPTE2 |
| 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 TPTE2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_102062 | 13 | 19997191:19997304:19999086:19999157:19999846:19999973 | 19999086:19999157 | ENSG00000132958.13 | ENST00000462409.1 |
| exon_skip_102063 | 13 | 19997191:19997304:19999086:19999157:20000564:20000657 | 19999086:19999157 | ENSG00000132958.13 | ENST00000382978.1,ENST00000400103.2,ENST00000255310.6,ENST00000457266.2,ENST00000382977.4,ENST00000400230.2,ENST00000390680.2,ENST00000382975.4 |
| exon_skip_102069 | 13 | 19999086:19999157:19999846:19999973:20004607:20004687 | 19999846:19999973 | ENSG00000132958.13 | ENST00000462409.1 |
| exon_skip_102070 | 13 | 19999086:19999157:20000564:20000657:20004607:20004687 | 20000564:20000657 | ENSG00000132958.13 | ENST00000382978.1,ENST00000400103.2,ENST00000255310.6,ENST00000457266.2,ENST00000382977.4,ENST00000400230.2,ENST00000390680.2,ENST00000382975.4 |
| exon_skip_102072 | 13 | 20006612:20006718:20010365:20010446:20012231:20012293 | 20010365:20010446 | ENSG00000132958.13 | ENST00000382978.1,ENST00000400103.2,ENST00000255310.6,ENST00000462409.1,ENST00000457266.2,ENST00000382977.4,ENST00000400230.2,ENST00000390680.2,ENST00000382975.4 |
| exon_skip_102075 | 13 | 20024215:20024304:20024402:20024484:20025304:20025365 | 20024402:20024484 | ENSG00000132958.13 | ENST00000382978.1,ENST00000400103.2,ENST00000255310.6,ENST00000462409.1,ENST00000457266.2,ENST00000382977.4,ENST00000400230.2,ENST00000390680.2,ENST00000382975.4 |
| exon_skip_102076 | 13 | 20039604:20039704:20041364:20041484:20048053:20048215 | 20041364:20041484 | ENSG00000132958.13 | ENST00000382977.4,ENST00000400230.2 |
| exon_skip_102080 | 13 | 20049712:20049763:20056627:20056687:20066989:20067043 | 20056627:20056687 | ENSG00000132958.13 | ENST00000382978.1,ENST00000382977.4,ENST00000400230.2,ENST00000382975.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TPTE2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_102062 | 13 | 19997191:19997304:19999086:19999157:19999846:19999973 | 19999086:19999157 | ENSG00000132958.13 | ENST00000462409.1 |
| exon_skip_102063 | 13 | 19997191:19997304:19999086:19999157:20000564:20000657 | 19999086:19999157 | ENSG00000132958.13 | ENST00000382978.1,ENST00000400103.2,ENST00000400230.2,ENST00000255310.6,ENST00000390680.2,ENST00000382977.4,ENST00000382975.4,ENST00000457266.2 |
| exon_skip_102069 | 13 | 19999086:19999157:19999846:19999973:20004607:20004687 | 19999846:19999973 | ENSG00000132958.13 | ENST00000462409.1 |
| exon_skip_102070 | 13 | 19999086:19999157:20000564:20000657:20004607:20004687 | 20000564:20000657 | ENSG00000132958.13 | ENST00000382978.1,ENST00000400103.2,ENST00000400230.2,ENST00000255310.6,ENST00000390680.2,ENST00000382977.4,ENST00000382975.4,ENST00000457266.2 |
| exon_skip_102072 | 13 | 20006612:20006718:20010365:20010446:20012231:20012293 | 20010365:20010446 | ENSG00000132958.13 | ENST00000382978.1,ENST00000400103.2,ENST00000400230.2,ENST00000255310.6,ENST00000462409.1,ENST00000390680.2,ENST00000382977.4,ENST00000382975.4,ENST00000457266.2 |
| exon_skip_102075 | 13 | 20024215:20024304:20024402:20024484:20025304:20025365 | 20024402:20024484 | ENSG00000132958.13 | ENST00000382978.1,ENST00000400103.2,ENST00000400230.2,ENST00000255310.6,ENST00000462409.1,ENST00000390680.2,ENST00000382977.4,ENST00000382975.4,ENST00000457266.2 |
| exon_skip_102076 | 13 | 20039604:20039704:20041364:20041484:20048053:20048215 | 20041364:20041484 | ENSG00000132958.13 | ENST00000400230.2,ENST00000382977.4 |
| exon_skip_102077 | 13 | 20039604:20039704:20048053:20048215:20066989:20067043 | 20048053:20048215 | ENSG00000132958.13 | ENST00000255310.6,ENST00000390680.2 |
| exon_skip_102078 | 13 | 20039604:20039704:20056627:20056687:20066989:20067043 | 20056627:20056687 | ENSG00000132958.13 | ENST00000400103.2,ENST00000457266.2 |
| exon_skip_102080 | 13 | 20049712:20049763:20056627:20056687:20066989:20067043 | 20056627:20056687 | ENSG00000132958.13 | ENST00000382978.1,ENST00000400230.2,ENST00000382977.4,ENST00000382975.4 |
| 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 TPTE2 |
| 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 |
| ENST00000400230 | 19999086 | 19999157 | Frame-shift |
| ENST00000400230 | 20024402 | 20024484 | Frame-shift |
| ENST00000400230 | 20000564 | 20000657 | In-frame |
| ENST00000400230 | 20010365 | 20010446 | In-frame |
| ENST00000400230 | 20041364 | 20041484 | In-frame |
| ENST00000400230 | 20056627 | 20056687 | 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 |
| ENST00000400230 | 19999086 | 19999157 | Frame-shift |
| ENST00000400230 | 20024402 | 20024484 | Frame-shift |
| ENST00000400230 | 20000564 | 20000657 | In-frame |
| ENST00000400230 | 20010365 | 20010446 | In-frame |
| ENST00000400230 | 20041364 | 20041484 | In-frame |
| ENST00000400230 | 20056627 | 20056687 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TPTE2 |
| 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 |
| ENST00000400230 | 1810 | 522 | 20056627 | 20056687 | 165 | 224 | 40 | 59 |
| ENST00000400230 | 1810 | 522 | 20041364 | 20041484 | 438 | 557 | 131 | 170 |
| ENST00000400230 | 1810 | 522 | 20010365 | 20010446 | 1081 | 1161 | 345 | 372 |
| ENST00000400230 | 1810 | 522 | 20000564 | 20000657 | 1348 | 1440 | 434 | 465 |
| 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 |
| ENST00000400230 | 1810 | 522 | 20056627 | 20056687 | 165 | 224 | 40 | 59 |
| ENST00000400230 | 1810 | 522 | 20041364 | 20041484 | 438 | 557 | 131 | 170 |
| ENST00000400230 | 1810 | 522 | 20010365 | 20010446 | 1081 | 1161 | 345 | 372 |
| ENST00000400230 | 1810 | 522 | 20000564 | 20000657 | 1348 | 1440 | 434 | 465 |
| 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 |
| 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 |
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SNVs in the skipped exons for TPTE2 |
| - 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 |
| BLCA | TCGA-2F-A9KP-01 | exon_skip_102076 | 20041365 | 20041484 | 20041394 | 20041394 | Frame_Shift_Del | A | - | p.F161fs |
| LGG | TCGA-DU-6392-01 | exon_skip_102076 | 20041365 | 20041484 | 20041394 | 20041394 | Frame_Shift_Del | A | - | p.F161fs |
| PAAD | TCGA-HZ-8003-01 | exon_skip_102076 | 20041365 | 20041484 | 20041394 | 20041394 | Frame_Shift_Del | A | - | p.F161fs |
| PRAD | TCGA-HC-7230-01 | exon_skip_102076 | 20041365 | 20041484 | 20041394 | 20041394 | Frame_Shift_Del | A | - | p.F161fs |
| PRAD | TCGA-XJ-A9DK-01 | exon_skip_102076 | 20041365 | 20041484 | 20041394 | 20041394 | Frame_Shift_Del | A | - | p.F161fs |
| STAD | TCGA-D7-A6EY-01 | exon_skip_102076 | 20041365 | 20041484 | 20041394 | 20041394 | Frame_Shift_Del | A | - | p.F161fs |
| TGCT | TCGA-2G-AALZ-01 | exon_skip_102076 | 20041365 | 20041484 | 20041394 | 20041394 | Frame_Shift_Del | A | - | p.F161fs |
| THCA | TCGA-EM-A3O8-01 | exon_skip_102076 | 20041365 | 20041484 | 20041394 | 20041394 | Frame_Shift_Del | A | - | p.F161fs |
| THYM | TCGA-ZB-A96Q-01 | exon_skip_102076 | 20041365 | 20041484 | 20041394 | 20041394 | Frame_Shift_Del | A | - | p.F161fs |
| UCEC | TCGA-AP-A05N-01 | exon_skip_102076 | 20041365 | 20041484 | 20041394 | 20041394 | Frame_Shift_Del | A | - | p.F161fs |
| BRCA | TCGA-D8-A1JE-01 | exon_skip_102069 | 19999847 | 19999973 | 19999954 | 19999955 | Frame_Shift_Ins | - | GCGAA | p.R321fs |
| BRCA | TCGA-D8-A1Y1-01 | exon_skip_102069 | 19999847 | 19999973 | 19999954 | 19999955 | Frame_Shift_Ins | - | GCGAA | p.R321fs |
| UCEC | TCGA-EO-A1Y8-01 | exon_skip_102069 | 19999847 | 19999973 | 19999954 | 19999955 | Frame_Shift_Ins | - | GCGAA | p.R321fs |
| STAD | TCGA-CG-5721-01 | exon_skip_102076 | 20041365 | 20041484 | 20041393 | 20041394 | Frame_Shift_Ins | - | A | p.D162_I163delinsX |
| STAD | TCGA-CG-5721-01 | exon_skip_102076 | 20041365 | 20041484 | 20041394 | 20041395 | Frame_Shift_Ins | - | A | p.F161fs |
| KIRC | TCGA-A3-3320-01 | exon_skip_102062 exon_skip_102063 | 19999087 | 19999157 | 19999143 | 19999143 | Nonsense_Mutation | G | C | p.Y470* |
| KIRC | TCGA-A3-3320-01 | exon_skip_102062 exon_skip_102063 | 19999087 | 19999157 | 19999143 | 19999143 | Nonsense_Mutation | G | C | p.Y470X |
| COAD | TCGA-AZ-6598-01 | exon_skip_102076 | 20041365 | 20041484 | 20041393 | 20041394 | Nonsense_Mutation | - | A | p.D162_I163delinsX |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_102062 exon_skip_102063 | 19999087 | 19999157 | 19999158 | 19999158 | Splice_Site | C | A | e19-1 |
| READ | TCGA-F5-6814-01 | exon_skip_102070 | 20000565 | 20000657 | 20000658 | 20000658 | Splice_Site | C | A | . |
| - 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 | 20000565 | 20000657 | 20000572 | 20000572 | Frame_Shift_Del | A | - | p.F463fs |
| SW1463_LARGE_INTESTINE | 19999087 | 19999157 | 19999123 | 19999123 | Missense_Mutation | A | C | p.F477C |
| HCC1569_BREAST | 19999087 | 19999157 | 19999142 | 19999142 | Missense_Mutation | A | G | p.Y471H |
| SH4_SKIN | 19999087 | 19999157 | 19999151 | 19999151 | Missense_Mutation | G | A | p.P468S |
| SNU324_PANCREAS | 20000565 | 20000657 | 20000653 | 20000653 | Missense_Mutation | A | G | p.L436S |
| HCC1569_BREAST | 20010366 | 20010446 | 20010383 | 20010383 | Missense_Mutation | C | G | p.V367L |
| GP2D_LARGE_INTESTINE | 20041365 | 20041484 | 20041407 | 20041407 | Missense_Mutation | A | G | p.I157T |
| SNU1197_LARGE_INTESTINE | 20041365 | 20041484 | 20041414 | 20041414 | Missense_Mutation | C | A | p.D155Y |
| TGBC11TKB_STOMACH | 20041365 | 20041484 | 20041459 | 20041459 | Missense_Mutation | A | G | p.F140L |
| OVCAR5_OVARY | 20041365 | 20041484 | 20041465 | 20041465 | Missense_Mutation | C | T | p.D138N |
| C33A_CERVIX | 20056628 | 20056687 | 20056655 | 20056655 | Missense_Mutation | T | C | p.E51G |
| OC314_OVARY | 20056628 | 20056687 | 20056655 | 20056655 | Missense_Mutation | T | C | p.E51G |
| 451LU_SKIN | 19999087 | 19999157 | 19999117 | 19999117 | Nonsense_Mutation | C | T | p.W479* |
| C33A_CERVIX | 20056628 | 20056687 | 20056687 | 20056687 | Splice_Site | A | T | p.S40R |
| SNU407_LARGE_INTESTINE | 20056628 | 20056687 | 20056687 | 20056687 | Splice_Site | A | T | p.S40R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TPTE2 |
| 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 TPTE2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TPTE2 |
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RelatedDrugs for TPTE2 |
| 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 TPTE2 |
| 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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