|
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 PPP2R5A |
Gene summary |
Gene information | Gene symbol | PPP2R5A | Gene ID | 5525 |
Gene name | protein phosphatase 2 regulatory subunit B'alpha | |
Synonyms | B56A|B56alpha|PR61A | |
Cytomap | 1q32.3 | |
Type of gene | protein-coding | |
Description | serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoformPP2A B subunit isoform B'-alphaPP2A B subunit isoform B56-alphaPP2A B subunit isoform PR61-alphaPP2A B subunit isoform R5-alphaPP2A, B subunit, B' alpha isoformPP2A, B su | |
Modification date | 20180523 | |
UniProtAcc | Q15172 | |
Context | PubMed: PPP2R5A [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 |
PPP2R5A | GO:0006470 | protein dephosphorylation | 24157919 |
Top |
Exon skipping events across known transcript of Ensembl for PPP2R5A 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 PPP2R5A |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for PPP2R5A |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_17750 | 1 | 212480124:212480242:212502476:212502673:212506838:212506940 | 212502476:212502673 | ENSG00000066027.7 | ENST00000479259.1 |
exon_skip_17753 | 1 | 212506838:212506940:212507293:212507366:212515529:212515622 | 212507293:212507366 | ENSG00000066027.7 | ENST00000498129.2 |
exon_skip_17758 | 1 | 212506838:212506940:212515529:212515622:212519144:212519225 | 212515529:212515622 | ENSG00000066027.7 | ENST00000537030.3,ENST00000261461.2 |
exon_skip_17762 | 1 | 212515529:212515622:212519144:212519275:212520688:212520748 | 212519144:212519275 | ENSG00000066027.7 | ENST00000537030.3,ENST00000261461.2 |
exon_skip_17765 | 1 | 212519144:212519275:212520688:212520748:212521730:212521839 | 212520688:212520748 | ENSG00000066027.7 | ENST00000537030.3,ENST00000261461.2 |
exon_skip_17771 | 1 | 212521730:212521839:212522530:212522584:212529967:212530018 | 212522530:212522584 | ENSG00000066027.7 | ENST00000537030.3,ENST00000261461.2 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for PPP2R5A |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_17750 | 1 | 212480124:212480242:212502476:212502673:212506838:212506940 | 212502476:212502673 | ENSG00000066027.7 | ENST00000479259.1 |
exon_skip_17758 | 1 | 212506838:212506940:212515529:212515622:212519144:212519225 | 212515529:212515622 | ENSG00000066027.7 | ENST00000261461.2,ENST00000537030.3 |
exon_skip_17762 | 1 | 212515529:212515622:212519144:212519275:212520688:212520748 | 212519144:212519275 | ENSG00000066027.7 | ENST00000261461.2,ENST00000537030.3 |
exon_skip_17765 | 1 | 212519144:212519275:212520688:212520748:212521730:212521839 | 212520688:212520748 | ENSG00000066027.7 | ENST00000261461.2,ENST00000537030.3 |
exon_skip_17771 | 1 | 212521730:212521839:212522530:212522584:212529967:212530018 | 212522530:212522584 | ENSG00000066027.7 | ENST00000261461.2,ENST00000537030.3 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PPP2R5A |
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 |
ENST00000261461 | 212519144 | 212519275 | Frame-shift |
ENST00000261461 | 212515529 | 212515622 | In-frame |
ENST00000261461 | 212520688 | 212520748 | In-frame |
ENST00000261461 | 212522530 | 212522584 | 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 |
ENST00000261461 | 212519144 | 212519275 | Frame-shift |
ENST00000261461 | 212515529 | 212515622 | In-frame |
ENST00000261461 | 212520688 | 212520748 | In-frame |
ENST00000261461 | 212522530 | 212522584 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PPP2R5A |
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 |
ENST00000261461 | 3140 | 486 | 212515529 | 212515622 | 1055 | 1147 | 160 | 191 |
ENST00000261461 | 3140 | 486 | 212520688 | 212520748 | 1279 | 1338 | 235 | 254 |
ENST00000261461 | 3140 | 486 | 212522530 | 212522584 | 1448 | 1501 | 291 | 309 |
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 |
ENST00000261461 | 3140 | 486 | 212515529 | 212515622 | 1055 | 1147 | 160 | 191 |
ENST00000261461 | 3140 | 486 | 212520688 | 212520748 | 1279 | 1338 | 235 | 254 |
ENST00000261461 | 3140 | 486 | 212522530 | 212522584 | 1448 | 1501 | 291 | 309 |
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 |
Q15172 | 160 | 191 | 2 | 486 | Chain | ID=PRO_0000071448;Note=Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform |
Q15172 | 160 | 191 | 176 | 176 | Sequence conflict | Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q15172 | 235 | 254 | 2 | 486 | Chain | ID=PRO_0000071448;Note=Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform |
Q15172 | 291 | 309 | 2 | 486 | Chain | ID=PRO_0000071448;Note=Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform |
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 |
Q15172 | 160 | 191 | 2 | 486 | Chain | ID=PRO_0000071448;Note=Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform |
Q15172 | 160 | 191 | 176 | 176 | Sequence conflict | Note=Q->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q15172 | 235 | 254 | 2 | 486 | Chain | ID=PRO_0000071448;Note=Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform |
Q15172 | 291 | 309 | 2 | 486 | Chain | ID=PRO_0000071448;Note=Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform |
Top |
SNVs in the skipped exons for PPP2R5A |
- 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-A39Y-01 | exon_skip_17758 | 212515530 | 212515622 | 212515540 | 212515540 | Frame_Shift_Del | A | - | p.E164fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_17758 | 212515530 | 212515622 | 212515554 | 212515554 | Frame_Shift_Del | T | - | p.F169fs |
LIHC | TCGA-BC-A3KG-01 | exon_skip_17758 | 212515530 | 212515622 | 212515571 | 212515571 | Frame_Shift_Del | T | - | p.D174fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_17758 | 212515530 | 212515622 | 212515571 | 212515571 | Frame_Shift_Del | T | - | p.D174fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_17758 | 212515530 | 212515622 | 212515589 | 212515589 | Frame_Shift_Del | A | - | p.A180fs |
LIHC | TCGA-MI-A75E-01 | exon_skip_17762 | 212519145 | 212519275 | 212519188 | 212519197 | Frame_Shift_Del | TCCTGAAGAC | - | p.FLKT206fs |
PAAD | TCGA-IB-7651-01 | exon_skip_17750 | 212502477 | 212502673 | 212502503 | 212502504 | Frame_Shift_Ins | - | T | p.F70fs |
PAAD | TCGA-IB-7651-01 | exon_skip_17750 | 212502477 | 212502673 | 212502503 | 212502504 | Frame_Shift_Ins | - | T | p.L70fs |
UCEC | TCGA-AX-A05Z-01 | exon_skip_17750 | 212502477 | 212502673 | 212502578 | 212502578 | Nonsense_Mutation | G | T | p.E95* |
UCEC | TCGA-B5-A11E-01 | exon_skip_17750 | 212502477 | 212502673 | 212502578 | 212502578 | Nonsense_Mutation | G | T | p.E95* |
STAD | TCGA-CG-4442-01 | exon_skip_17762 | 212519145 | 212519275 | 212519208 | 212519208 | Nonsense_Mutation | C | T | p.R213* |
STAD | TCGA-CG-4442-01 | exon_skip_17762 | 212519145 | 212519275 | 212519208 | 212519208 | Nonsense_Mutation | C | T | p.R213X |
SKCM | TCGA-EE-A3AB-06 | exon_skip_17762 | 212519145 | 212519275 | 212519229 | 212519229 | Nonsense_Mutation | G | T | p.G163X |
SKCM | TCGA-EE-A3AB-06 | exon_skip_17762 | 212519145 | 212519275 | 212519229 | 212519229 | Nonsense_Mutation | G | T | p.G220* |
- 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 |
BICR18_UPPER_AERODIGESTIVE_TRACT | 212502477 | 212502673 | 212502573 | 212502573 | Missense_Mutation | G | T | p.S93I |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 212502477 | 212502673 | 212502573 | 212502573 | Missense_Mutation | G | T | p.S93I |
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 212502477 | 212502673 | 212502573 | 212502573 | Missense_Mutation | G | T | p.S93I |
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 212502477 | 212502673 | 212502573 | 212502573 | Missense_Mutation | G | T | p.S93I |
SNUC2B_LARGE_INTESTINE | 212502477 | 212502673 | 212502573 | 212502573 | Missense_Mutation | G | T | p.S93I |
BICR18_UPPER_AERODIGESTIVE_TRACT | 212502477 | 212502673 | 212502608 | 212502608 | Missense_Mutation | G | A | p.V105I |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 212502477 | 212502673 | 212502608 | 212502608 | Missense_Mutation | G | A | p.V105I |
NCIH441_LUNG | 212515530 | 212515622 | 212515558 | 212515558 | Missense_Mutation | T | C | p.L170S |
KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 212519145 | 212519275 | 212519184 | 212519184 | Missense_Mutation | G | A | p.D205N |
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 212519145 | 212519275 | 212519209 | 212519209 | Missense_Mutation | G | A | p.R213Q |
EN_ENDOMETRIUM | 212520689 | 212520748 | 212520715 | 212520715 | Missense_Mutation | A | G | p.N244S |
SNU81_LARGE_INTESTINE | 212502477 | 212502673 | 212502602 | 212502602 | Nonsense_Mutation | G | T | p.E103* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPP2R5A |
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 PPP2R5A |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PPP2R5A |
Top |
RelatedDrugs for PPP2R5A |
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 PPP2R5A |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
PPP2R5A | C0013990 | Pathological accumulation of air in tissues | 1 | CTD_human |