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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 PPM1B |
 Gene summary |
| Gene information | Gene symbol | PPM1B | Gene ID | 5495 |
| Gene name | protein phosphatase, Mg2+/Mn2+ dependent 1B | |
| Synonyms | PP2C-beta|PP2C-beta-X|PP2CB|PP2CBETA|PPC2BETAX | |
| Cytomap | 2p21 | |
| Type of gene | protein-coding | |
| Description | protein phosphatase 1BSer/Thr protein phosphatase type 2C beta 2 isoformprotein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoformprotein phosphatase 2C-like protein | |
| Modification date | 20180519 | |
| UniProtAcc | O75688 | |
| Context | PubMed: PPM1B [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 |
| PPM1B | GO:0035970 | peptidyl-threonine dephosphorylation | 20801214 |
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Exon skipping events across known transcript of Ensembl for PPM1B 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 PPM1B |
| 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 PPM1B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_325193 | 2 | 44396088:44396413:44428324:44429184:44436348:44436466 | 44428324:44429184 | ENSG00000138032.16 | ENST00000409432.3,ENST00000409895.4,ENST00000378551.2,ENST00000282412.4,ENST00000419807.1,ENST00000378540.4,ENST00000409486.2 |
| exon_skip_325200 | 2 | 44429155:44429184:44436348:44436466:44445105:44445217 | 44436348:44436466 | ENSG00000138032.16 | ENST00000409432.3,ENST00000378551.2,ENST00000282412.4,ENST00000419807.1,ENST00000378540.4 |
| exon_skip_325204 | 2 | 44436402:44436466:44440834:44440896:44445105:44445217 | 44440834:44440896 | ENSG00000138032.16 | ENST00000487286.1 |
| exon_skip_325206 | 2 | 44436402:44436466:44445105:44445217:44445618:44445676 | 44445105:44445217 | ENSG00000138032.16 | ENST00000409432.3,ENST00000409473.2,ENST00000378551.2,ENST00000282412.4,ENST00000345249.4,ENST00000419807.1,ENST00000378540.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PPM1B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_325193 | 2 | 44396088:44396413:44428324:44429184:44436348:44436466 | 44428324:44429184 | ENSG00000138032.16 | ENST00000419807.1,ENST00000409895.4,ENST00000409486.2,ENST00000409432.3,ENST00000282412.4,ENST00000378551.2,ENST00000378540.4 |
| exon_skip_325197 | 2 | 44396088:44396413:44436348:44436466:44445105:44445217 | 44436348:44436466 | ENSG00000138032.16 | ENST00000345249.4 |
| exon_skip_325200 | 2 | 44429155:44429184:44436348:44436466:44445105:44445217 | 44436348:44436466 | ENSG00000138032.16 | ENST00000419807.1,ENST00000409432.3,ENST00000282412.4,ENST00000378551.2,ENST00000378540.4 |
| exon_skip_325204 | 2 | 44436402:44436466:44440834:44440896:44445105:44445217 | 44440834:44440896 | ENSG00000138032.16 | ENST00000487286.1 |
| exon_skip_325206 | 2 | 44436402:44436466:44445105:44445217:44445618:44445676 | 44445105:44445217 | ENSG00000138032.16 | ENST00000419807.1,ENST00000409432.3,ENST00000282412.4,ENST00000378551.2,ENST00000378540.4,ENST00000345249.4,ENST00000409473.2 |
| 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 PPM1B |
| 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 |
| ENST00000282412 | 44428324 | 44429184 | 5CDS-5UTR |
| ENST00000282412 | 44436348 | 44436466 | Frame-shift |
| ENST00000282412 | 44445105 | 44445217 | Frame-shift |
| 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 |
| ENST00000282412 | 44428324 | 44429184 | 5CDS-5UTR |
| ENST00000282412 | 44436348 | 44436466 | Frame-shift |
| ENST00000282412 | 44445105 | 44445217 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PPM1B |
| 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 PPM1B |
| - 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 |
| THYM | TCGA-ZB-A966-01 | exon_skip_325193 | 44428325 | 44429184 | 44428376 | 44428377 | Frame_Shift_Del | AT | - | p.13_13del |
| THYM | TCGA-ZB-A966-01 | exon_skip_325193 | 44428325 | 44429184 | 44428376 | 44428377 | Frame_Shift_Del | AT | - | p.H13fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_325193 | 44428325 | 44429184 | 44428501 | 44428501 | Frame_Shift_Del | T | - | p.S54fs |
| STAD | TCGA-CG-5723-01 | exon_skip_325193 | 44428325 | 44429184 | 44428501 | 44428501 | Frame_Shift_Del | T | - | p.S54fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_325193 | 44428325 | 44429184 | 44428542 | 44428542 | Frame_Shift_Del | A | - | p.A68fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_325206 | 44445106 | 44445217 | 44445175 | 44445175 | Frame_Shift_Del | A | - | p.E345fs |
| STAD | TCGA-HU-A4G8-01 | exon_skip_325206 | 44445106 | 44445217 | 44445212 | 44445212 | Frame_Shift_Del | T | - | p.A357fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_325193 | 44428325 | 44429184 | 44428347 | 44428348 | Frame_Shift_Ins | - | T | p.AF3fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_325193 | 44428325 | 44429184 | 44428369 | 44428370 | Frame_Shift_Ins | - | A | p.K11fs |
| BLCA | TCGA-XF-AAN7-01 | exon_skip_325193 | 44428325 | 44429184 | 44428930 | 44428931 | Frame_Shift_Ins | - | T | p.V198fs |
| BRCA | TCGA-EW-A1PB-01 | exon_skip_325193 | 44428325 | 44429184 | 44428733 | 44428733 | Nonsense_Mutation | C | G | p.S132* |
| STAD | TCGA-BR-4184-01 | exon_skip_325193 | 44428325 | 44429184 | 44428873 | 44428873 | Nonsense_Mutation | C | T | p.R179* |
| - 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 |
| SNU175_LARGE_INTESTINE | 44428325 | 44429184 | 44428382 | 44428382 | Missense_Mutation | C | T | p.A15V |
| JHUEM7_ENDOMETRIUM | 44428325 | 44429184 | 44428502 | 44428502 | Missense_Mutation | T | G | p.F55C |
| HEC251_ENDOMETRIUM | 44428325 | 44429184 | 44428545 | 44428545 | Missense_Mutation | T | G | p.N69K |
| GP2D_LARGE_INTESTINE | 44428325 | 44429184 | 44428585 | 44428585 | Missense_Mutation | G | A | p.E83K |
| GP5D_LARGE_INTESTINE | 44428325 | 44429184 | 44428585 | 44428585 | Missense_Mutation | G | A | p.E83K |
| TC106_BONE | 44428325 | 44429184 | 44428672 | 44428672 | Missense_Mutation | A | C | p.K112Q |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44428325 | 44429184 | 44428741 | 44428741 | Missense_Mutation | G | A | p.V135M |
| NCIH524_LUNG | 44428325 | 44429184 | 44428958 | 44428958 | Missense_Mutation | A | T | p.Y207F |
| MDAMB435S_SKIN | 44428325 | 44429184 | 44429067 | 44429067 | Missense_Mutation | T | G | p.D243E |
| SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44428325 | 44429184 | 44429071 | 44429071 | Missense_Mutation | A | G | p.I245V |
| SKMM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44428325 | 44429184 | 44429084 | 44429084 | Missense_Mutation | T | C | p.M249T |
| RKO_LARGE_INTESTINE | 44428325 | 44429184 | 44429086 | 44429086 | Missense_Mutation | A | C | p.S250R |
| FTC133_THYROID | 44428325 | 44429184 | 44429094 | 44429094 | Missense_Mutation | G | T | p.E252D |
| MHHCALL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44428325 | 44429184 | 44429125 | 44429125 | Missense_Mutation | G | C | p.E263Q |
| UMUC14_URINARY_TRACT | 44436349 | 44436466 | 44436358 | 44436358 | Missense_Mutation | G | C | p.D286H |
| LAN6_AUTONOMIC_GANGLIA | 44436349 | 44436466 | 44436457 | 44436457 | Missense_Mutation | C | T | p.R319W |
| COLO824_BREAST | 44445106 | 44445217 | 44445145 | 44445145 | Missense_Mutation | T | A | p.L335H |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44445106 | 44445217 | 44445160 | 44445160 | Missense_Mutation | G | A | p.R340H |
| SNGM_ENDOMETRIUM | 44445106 | 44445217 | 44445168 | 44445168 | Missense_Mutation | T | C | p.S343P |
| RPMI7951_SKIN | 44445106 | 44445217 | 44445199 | 44445199 | Missense_Mutation | G | C | p.G353A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPM1B |
| 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 PPM1B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PPM1B |
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RelatedDrugs for PPM1B |
| 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 PPM1B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PPM1B | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| PPM1B | C1848030 | Hypotonia-Cystinuria Syndrome | 1 | CTD_human;ORPHANET |
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