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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 PREX2 |
 Gene summary |
| Gene information | Gene symbol | PREX2 | Gene ID | 80243 |
| Gene name | phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 | |
| Synonyms | DEP.2|DEPDC2|P-REX2|PPP1R129 | |
| Cytomap | 8q13.2 | |
| Type of gene | protein-coding | |
| Description | phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 proteinDEP domain-containing protein 2PtdIns(3,4,5)-dependent Rac exchanger 2protein phosphatase 1, regulatory subunit 129 | |
| Modification date | 20180523 | |
| UniProtAcc | Q70Z35 | |
| Context | PubMed: PREX2 [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 |
| PREX2 | GO:0007186 | G-protein coupled receptor signaling pathway | 15304343 |
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Exon skipping events across known transcript of Ensembl for PREX2 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 PREX2 |
| 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 PREX2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_483907 | 8 | 68864723:68864770:68930080:68930152:68931783:68931906 | 68930080:68930152 | ENSG00000046889.14 | ENST00000529398.1 |
| exon_skip_483910 | 8 | 69002813:69002950:69005839:69005957:69009251:69009436 | 69005839:69005957 | ENSG00000046889.14 | ENST00000529398.1,ENST00000517617.1,ENST00000288368.4 |
| exon_skip_483915 | 8 | 69030784:69030879:69031666:69031749:69032430:69032521 | 69031666:69031749 | ENSG00000046889.14 | ENST00000288368.4 |
| exon_skip_483916 | 8 | 69033155:69033284:69039612:69039654:69046293:69046511 | 69039612:69039654 | ENSG00000046889.14 | ENST00000288368.4 |
| exon_skip_483917 | 8 | 69058443:69058587:69069556:69069671:69103956:69104023 | 69069556:69069671 | ENSG00000046889.14 | ENST00000288368.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PREX2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_483907 | 8 | 68864723:68864770:68930080:68930152:68931783:68931906 | 68930080:68930152 | ENSG00000046889.14 | ENST00000529398.1 |
| exon_skip_483909 | 8 | 68864723:68864770:68934270:68934375:68939456:68939558 | 68934270:68934375 | ENSG00000046889.14 | ENST00000517617.1 |
| exon_skip_483910 | 8 | 69002813:69002950:69005839:69005957:69009251:69009436 | 69005839:69005957 | ENSG00000046889.14 | ENST00000288368.4,ENST00000529398.1,ENST00000517617.1 |
| exon_skip_483915 | 8 | 69030784:69030879:69031666:69031749:69032430:69032521 | 69031666:69031749 | ENSG00000046889.14 | ENST00000288368.4 |
| exon_skip_483916 | 8 | 69033155:69033284:69039612:69039654:69046293:69046511 | 69039612:69039654 | ENSG00000046889.14 | ENST00000288368.4 |
| exon_skip_483917 | 8 | 69058443:69058587:69069556:69069671:69103956:69104023 | 69069556:69069671 | ENSG00000046889.14 | ENST00000288368.4 |
| 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 PREX2 |
| 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 |
| ENST00000288368 | 69005839 | 69005957 | Frame-shift |
| ENST00000288368 | 69031666 | 69031749 | Frame-shift |
| ENST00000288368 | 69069556 | 69069671 | Frame-shift |
| ENST00000288368 | 69039612 | 69039654 | 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 |
| ENST00000288368 | 69005839 | 69005957 | Frame-shift |
| ENST00000288368 | 69031666 | 69031749 | Frame-shift |
| ENST00000288368 | 69069556 | 69069671 | Frame-shift |
| ENST00000288368 | 69039612 | 69039654 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PREX2 |
| 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 |
| ENST00000288368 | 10767 | 1606 | 69039612 | 69039654 | 4002 | 4043 | 1241 | 1255 |
| 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 |
| ENST00000288368 | 10767 | 1606 | 69039612 | 69039654 | 4002 | 4043 | 1241 | 1255 |
| 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 |
| Q70Z35 | 1241 | 1255 | 980 | 1606 | Alternative sequence | ID=VSP_025152;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.2;Dbxref=PMID:14702039 |
| Q70Z35 | 1241 | 1255 | 1050 | 1606 | Alternative sequence | ID=VSP_055614;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q70Z35 | 1241 | 1255 | 1242 | 1255 | Alternative sequence | ID=VSP_025157;Note=In isoform 2. EVKCRLLLALLEYS->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q70Z35 | 1241 | 1255 | 1 | 1606 | Chain | ID=PRO_0000286795;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate-dependent Rac exchanger 2 protein |
| 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 |
| Q70Z35 | 1241 | 1255 | 980 | 1606 | Alternative sequence | ID=VSP_025152;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.2;Dbxref=PMID:14702039 |
| Q70Z35 | 1241 | 1255 | 1050 | 1606 | Alternative sequence | ID=VSP_055614;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q70Z35 | 1241 | 1255 | 1242 | 1255 | Alternative sequence | ID=VSP_025157;Note=In isoform 2. EVKCRLLLALLEYS->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q70Z35 | 1241 | 1255 | 1 | 1606 | Chain | ID=PRO_0000286795;Note=Phosphatidylinositol 3%2C4%2C5-trisphosphate-dependent Rac exchanger 2 protein |
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SNVs in the skipped exons for PREX2 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_483910 | 69005840 | 69005957 | 69005912 | 69005912 | Frame_Shift_Del | C | - | p.P776fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_483910 | 69005840 | 69005957 | 69005912 | 69005912 | Frame_Shift_Del | C | - | p.P776fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_483917 | 69069557 | 69069671 | 69069649 | 69069649 | Frame_Shift_Del | A | - | p.K1442fs |
| STAD | TCGA-D7-6817-01 | exon_skip_483907 | 68930081 | 68930152 | 68930132 | 68930133 | Nonsense_Mutation | GT | TA | p.V65* |
| SKCM | TCGA-W3-AA1V-06 | exon_skip_483910 | 69005840 | 69005957 | 69005857 | 69005857 | Nonsense_Mutation | G | A | p.W756* |
| LGG | TCGA-DU-6392-01 | exon_skip_483917 | 69069557 | 69069671 | 69069574 | 69069574 | Nonsense_Mutation | G | T | p.G1417* |
| STAD | TCGA-CD-A4MI-01 | exon_skip_483917 | 69069557 | 69069671 | 69069574 | 69069574 | Nonsense_Mutation | G | T | p.G1417* |
| STAD | TCGA-CD-A4MI-01 | exon_skip_483917 | 69069557 | 69069671 | 69069574 | 69069574 | Nonsense_Mutation | G | T | p.G1417X |
| ACC | TCGA-OR-A5KB-01 | exon_skip_483917 | 69069557 | 69069671 | 69069640 | 69069640 | Nonsense_Mutation | G | T | p.E1439* |
| ACC | TCGA-OR-A5KB-01 | exon_skip_483917 | 69069557 | 69069671 | 69069640 | 69069640 | Nonsense_Mutation | G | T | p.E1439X |
| - 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 |
| HCC2450_LUNG | 68930081 | 68930152 | 68930087 | 68930087 | Missense_Mutation | T | G | p.L50V |
| HEPG2_LIVER | 68930081 | 68930152 | 68930087 | 68930087 | Missense_Mutation | T | G | p.L50V |
| C3A_LIVER | 68930081 | 68930152 | 68930087 | 68930087 | Missense_Mutation | T | G | p.L50V |
| P32ISH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68930081 | 68930152 | 68930087 | 68930087 | Missense_Mutation | T | G | p.L50V |
| CW2_LARGE_INTESTINE | 69005840 | 69005957 | 69005849 | 69005849 | Missense_Mutation | A | G | p.I754V |
| MJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69005840 | 69005957 | 69005884 | 69005884 | Missense_Mutation | A | C | p.Q765H |
| WM88_SKIN | 69031667 | 69031749 | 69031678 | 69031678 | Missense_Mutation | C | T | p.P1145S |
| SARC9371_BONE | 69031667 | 69031749 | 69031678 | 69031678 | Missense_Mutation | C | T | p.P1145S |
| HCT15_LARGE_INTESTINE | 69031667 | 69031749 | 69031727 | 69031727 | Missense_Mutation | G | A | p.C1161Y |
| HRT18_LARGE_INTESTINE | 69031667 | 69031749 | 69031727 | 69031727 | Missense_Mutation | G | A | p.C1161Y |
| JHU028_LUNG | 69039613 | 69039654 | 69039637 | 69039637 | Missense_Mutation | C | A | p.A1250D |
| NCIH2286_LUNG | 69069557 | 69069671 | 69069570 | 69069570 | Missense_Mutation | G | T | p.M1415I |
| CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68930081 | 68930152 | 68930101 | 68930102 | Nonsense_Mutation | CC | AT | p.54_55NQ>K* |
| ISTMEL1_SKIN | 68930081 | 68930152 | 68930102 | 68930102 | Nonsense_Mutation | C | T | p.Q55* |
| NCIH1793_LUNG | 68930081 | 68930152 | 68930152 | 68930152 | Splice_Site | G | T | p.K71N |
| NCIH1770_LUNG | 69039613 | 69039654 | 69039654 | 69039654 | Splice_Site | G | A | p.D1256N |
| NCIH2106_LUNG | 69039613 | 69039654 | 69039654 | 69039654 | Splice_Site | G | A | p.D1256N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PREX2 |
| 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 PREX2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PREX2 |
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RelatedDrugs for PREX2 |
| 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 PREX2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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