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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 PCK2 |
 Gene summary |
| Gene information | Gene symbol | PCK2 | Gene ID | 5106 |
| Gene name | phosphoenolpyruvate carboxykinase 2, mitochondrial | |
| Synonyms | PEPCK|PEPCK-M|PEPCK2 | |
| Cytomap | 14q11.2-q12 | |
| Type of gene | protein-coding | |
| Description | phosphoenolpyruvate carboxykinase [GTP], mitochondrialPEP carboxykinasephosphopyruvate carboxylase | |
| Modification date | 20180523 | |
| UniProtAcc | Q16822 | |
| Context | PubMed: PCK2 [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 PCK2 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 PCK2 |
| 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 PCK2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_105589 | 14 | 24563402:24563463:24563974:24564054:24566100:24566272 | 24563974:24564054 | ENSG00000100889.7 | ENST00000560736.1 |
| exon_skip_105593 | 14 | 24563565:24563643:24563974:24564054:24566100:24566272 | 24563974:24564054 | ENSG00000100889.7 | ENST00000560106.1 |
| exon_skip_105594 | 14 | 24563565:24563643:24563974:24564054:24567411:24567437 | 24563974:24564054 | ENSG00000100889.7 | ENST00000561286.1 |
| exon_skip_105596 | 14 | 24563565:24563643:24566100:24566346:24567411:24567437 | 24566100:24566346 | ENSG00000100889.7 | ENST00000396973.4,ENST00000216780.4 |
| exon_skip_105597 | 14 | 24563974:24564054:24564351:24564587:24566100:24566272 | 24564351:24564587 | ENSG00000100889.7 | ENST00000559584.1 |
| exon_skip_105598 | 14 | 24563974:24564054:24566100:24566346:24567411:24567437 | 24566100:24566346 | ENSG00000100889.7 | ENST00000560106.1,ENST00000560736.1,ENST00000561050.1,ENST00000545054.2,ENST00000558096.1,ENST00000558674.1 |
| exon_skip_105601 | 14 | 24566100:24566346:24567411:24567596:24567683:24567800 | 24567411:24567596 | ENSG00000100889.7 | ENST00000560106.1,ENST00000559250.1,ENST00000560736.1,ENST00000559837.1,ENST00000561050.1,ENST00000396973.4,ENST00000545054.2,ENST00000558096.1,ENST00000216780.4 |
| exon_skip_105602 | 14 | 24567720:24567887:24568257:24568445:24568766:24568929 | 24568257:24568445 | ENSG00000100889.7 | ENST00000559250.1,ENST00000396973.4,ENST00000561286.1,ENST00000545054.2,ENST00000558096.1,ENST00000216780.4,ENST00000558674.1 |
| exon_skip_105604 | 14 | 24567720:24567887:24568257:24568456:24568766:24568929 | 24568257:24568456 | ENSG00000100889.7 | ENST00000559503.1 |
| exon_skip_105606 | 14 | 24568257:24568445:24568766:24568929:24569203:24569422 | 24568766:24568929 | ENSG00000100889.7 | ENST00000559250.1,ENST00000396973.4,ENST00000561286.1,ENST00000545054.2,ENST00000558096.1,ENST00000216780.4 |
| exon_skip_105607 | 14 | 24568766:24568929:24569203:24569422:24571961:24572039 | 24569203:24569422 | ENSG00000100889.7 | ENST00000559250.1,ENST00000559503.1,ENST00000561286.1,ENST00000545054.2,ENST00000558096.1,ENST00000216780.4 |
| exon_skip_105609 | 14 | 24571961:24572099:24572368:24572464:24572718:24572867 | 24572368:24572464 | ENSG00000100889.7 | ENST00000557969.1,ENST00000561286.1,ENST00000545054.2,ENST00000216780.4 |
| exon_skip_105611 | 14 | 24571961:24572099:24572368:24572464:24573050:24573334 | 24572368:24572464 | ENSG00000100889.7 | ENST00000559250.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PCK2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_105589 | 14 | 24563402:24563463:24563974:24564054:24566100:24566272 | 24563974:24564054 | ENSG00000100889.7 | ENST00000560736.1 |
| exon_skip_105593 | 14 | 24563565:24563643:24563974:24564054:24566100:24566272 | 24563974:24564054 | ENSG00000100889.7 | ENST00000560106.1 |
| exon_skip_105594 | 14 | 24563565:24563643:24563974:24564054:24567411:24567437 | 24563974:24564054 | ENSG00000100889.7 | ENST00000561286.1 |
| exon_skip_105596 | 14 | 24563565:24563643:24566100:24566346:24567411:24567437 | 24566100:24566346 | ENSG00000100889.7 | ENST00000216780.4,ENST00000396973.4 |
| exon_skip_105598 | 14 | 24563974:24564054:24566100:24566346:24567411:24567437 | 24566100:24566346 | ENSG00000100889.7 | ENST00000560736.1,ENST00000560106.1,ENST00000545054.2,ENST00000561050.1,ENST00000558674.1,ENST00000558096.1 |
| exon_skip_105601 | 14 | 24566100:24566346:24567411:24567596:24567683:24567800 | 24567411:24567596 | ENSG00000100889.7 | ENST00000559250.1,ENST00000216780.4,ENST00000560736.1,ENST00000396973.4,ENST00000559837.1,ENST00000560106.1,ENST00000545054.2,ENST00000561050.1,ENST00000558096.1 |
| exon_skip_105602 | 14 | 24567720:24567887:24568257:24568445:24568766:24568929 | 24568257:24568445 | ENSG00000100889.7 | ENST00000559250.1,ENST00000216780.4,ENST00000396973.4,ENST00000545054.2,ENST00000561286.1,ENST00000558674.1,ENST00000558096.1 |
| exon_skip_105604 | 14 | 24567720:24567887:24568257:24568456:24568766:24568929 | 24568257:24568456 | ENSG00000100889.7 | ENST00000559503.1 |
| exon_skip_105606 | 14 | 24568257:24568445:24568766:24568929:24569203:24569422 | 24568766:24568929 | ENSG00000100889.7 | ENST00000559250.1,ENST00000216780.4,ENST00000396973.4,ENST00000545054.2,ENST00000561286.1,ENST00000558096.1 |
| exon_skip_105607 | 14 | 24568766:24568929:24569203:24569422:24571961:24572039 | 24569203:24569422 | ENSG00000100889.7 | ENST00000559250.1,ENST00000216780.4,ENST00000545054.2,ENST00000561286.1,ENST00000558096.1,ENST00000559503.1 |
| exon_skip_105609 | 14 | 24571961:24572099:24572368:24572464:24572718:24572867 | 24572368:24572464 | ENSG00000100889.7 | ENST00000216780.4,ENST00000545054.2,ENST00000561286.1,ENST00000557969.1 |
| exon_skip_105611 | 14 | 24571961:24572099:24572368:24572464:24573050:24573334 | 24572368:24572464 | ENSG00000100889.7 | ENST00000559250.1 |
| 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 PCK2 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for PCK2 |
| 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 |
| 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 |
| 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 PCK2 |
| - 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_105601 | 24567412 | 24567596 | 24567509 | 24567509 | Frame_Shift_Del | G | - | p.G126fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_105598 exon_skip_105596 | 24566101 | 24566346 | 24566204 | 24566204 | Nonsense_Mutation | C | T | p.R45* |
| PAAD | TCGA-IB-7651-01 | exon_skip_105598 exon_skip_105596 | 24566101 | 24566346 | 24566204 | 24566204 | Nonsense_Mutation | C | T | p.R45X |
| LUAD | TCGA-50-5051-01 | exon_skip_105598 exon_skip_105596 | 24566101 | 24566346 | 24566321 | 24566321 | Nonsense_Mutation | C | T | p.R84* |
| PAAD | TCGA-IB-7651-01 | exon_skip_105601 | 24567412 | 24567596 | 24567497 | 24567497 | Nonsense_Mutation | C | T | p.Q121* |
| PAAD | TCGA-IB-7651-01 | exon_skip_105601 | 24567412 | 24567596 | 24567497 | 24567497 | Nonsense_Mutation | C | T | p.Q121X |
| COAD | TCGA-AA-3555-01 | exon_skip_105601 | 24567412 | 24567596 | 24567560 | 24567560 | Nonsense_Mutation | C | T | p.R142X |
| HNSC | TCGA-HD-A4C1-01 | exon_skip_105607 | 24569204 | 24569422 | 24569206 | 24569206 | Nonsense_Mutation | C | T | p.R206* |
| UCEC | TCGA-D1-A15X-01 | exon_skip_105607 | 24569204 | 24569422 | 24569206 | 24569206 | Nonsense_Mutation | C | T | p.R340* |
| - 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 |
| PATU8988S_PANCREAS | 24567412 | 24567596 | 24567593 | 24567593 | Frame_Shift_Del | C | - | p.Q153fs |
| PATU8988T_PANCREAS | 24567412 | 24567596 | 24567593 | 24567593 | Frame_Shift_Del | C | - | p.Q153fs |
| NCIH684_LIVER | 24566101 | 24566346 | 24566145 | 24566145 | Missense_Mutation | G | A | p.R25H |
| NCIH2172_LUNG | 24566101 | 24566346 | 24566183 | 24566183 | Missense_Mutation | G | A | p.G38S |
| 22RV1_PROSTATE | 24566101 | 24566346 | 24566255 | 24566255 | Missense_Mutation | A | G | p.I62V |
| RDES_BONE | 24566101 | 24566346 | 24566300 | 24566300 | Missense_Mutation | C | A | p.L77M |
| KYSE520_OESOPHAGUS | 24566101 | 24566346 | 24566304 | 24566304 | Missense_Mutation | A | G | p.E78G |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 24566101 | 24566346 | 24566341 | 24566341 | Missense_Mutation | T | G | p.N90K |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 24568258 | 24568456 | 24568332 | 24568332 | Missense_Mutation | A | G | p.I247V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 24568258 | 24568445 | 24568332 | 24568332 | Missense_Mutation | A | G | p.I247V |
| MALME3M_SKIN | 24568258 | 24568456 | 24568393 | 24568393 | Missense_Mutation | G | A | p.R267H |
| MALME3M_SKIN | 24568258 | 24568445 | 24568393 | 24568393 | Missense_Mutation | G | A | p.R267H |
| SNU620_STOMACH | 24568258 | 24568456 | 24568393 | 24568393 | Missense_Mutation | G | A | p.R267H |
| SNU620_STOMACH | 24568258 | 24568445 | 24568393 | 24568393 | Missense_Mutation | G | A | p.R267H |
| HUCCT1_BILIARY_TRACT | 24568258 | 24568456 | 24568393 | 24568393 | Missense_Mutation | G | A | p.R267H |
| HUCCT1_BILIARY_TRACT | 24568258 | 24568445 | 24568393 | 24568393 | Missense_Mutation | G | A | p.R267H |
| SNU1040_LARGE_INTESTINE | 24568258 | 24568456 | 24568393 | 24568393 | Missense_Mutation | G | A | p.R267H |
| SNU1040_LARGE_INTESTINE | 24568258 | 24568445 | 24568393 | 24568393 | Missense_Mutation | G | A | p.R267H |
| JHUEM1_ENDOMETRIUM | 24568258 | 24568456 | 24568441 | 24568441 | Missense_Mutation | T | C | p.M283T |
| JHUEM1_ENDOMETRIUM | 24568258 | 24568445 | 24568441 | 24568441 | Missense_Mutation | T | C | p.M283T |
| CHL1_SKIN | 24568767 | 24568929 | 24568800 | 24568800 | Missense_Mutation | C | T | p.R296C |
| HMCB_SKIN | 24568767 | 24568929 | 24568800 | 24568800 | Missense_Mutation | C | T | p.R296C |
| CASKI_CERVIX | 24568767 | 24568929 | 24568913 | 24568913 | Missense_Mutation | G | A | p.M333I |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 24569204 | 24569422 | 24569207 | 24569207 | Missense_Mutation | G | A | p.R340Q |
| LOVO_LARGE_INTESTINE | 24569204 | 24569422 | 24569282 | 24569282 | Missense_Mutation | C | A | p.A365D |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24569204 | 24569422 | 24569305 | 24569305 | Missense_Mutation | A | G | p.T373A |
| RL952_ENDOMETRIUM | 24569204 | 24569422 | 24569344 | 24569344 | Missense_Mutation | G | A | p.V386M |
| UMUC5_URINARY_TRACT | 24569204 | 24569422 | 24569365 | 24569365 | Missense_Mutation | C | A | p.Q393K |
| NCIH810_LUNG | 24572369 | 24572464 | 24572441 | 24572441 | Missense_Mutation | C | T | p.S482F |
| LN405_CENTRAL_NERVOUS_SYSTEM | 24572369 | 24572464 | 24572453 | 24572453 | Missense_Mutation | C | T | p.A486V |
| SNU175_LARGE_INTESTINE | 24566101 | 24566346 | 24566162 | 24566162 | Nonsense_Mutation | C | T | p.R31* |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24566101 | 24566346 | 24566204 | 24566204 | Nonsense_Mutation | C | T | p.R45* |
| AN3CA_ENDOMETRIUM | 24568258 | 24568456 | 24568434 | 24568434 | Nonsense_Mutation | G | T | p.E281* |
| AN3CA_ENDOMETRIUM | 24568258 | 24568445 | 24568434 | 24568434 | Nonsense_Mutation | G | T | p.E281* |
| PATU8988S_PANCREAS | 24567412 | 24567596 | 24567595 | 24567596 | Splice_Site | - | A | p.G154fs |
| PATU8988T_PANCREAS | 24567412 | 24567596 | 24567595 | 24567596 | Splice_Site | - | A | p.G154fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PCK2 |
| 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 PCK2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PCK2 |
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RelatedDrugs for PCK2 |
| 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 PCK2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PCK2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| PCK2 | C0242184 | Hypoxia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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