|
||||||
|
 | |
| |
| |
| |
| 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 PPP4R1 |
 Gene summary |
| Gene information | Gene symbol | PPP4R1 | Gene ID | 9989 |
| Gene name | protein phosphatase 4 regulatory subunit 1 | |
| Synonyms | MEG1|PP4(Rmeg)|PP4R1 | |
| Cytomap | 18p11.22 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein phosphatase 4 regulatory subunit 1serine/threonine phosphatase 4 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8TF05 | |
| Context | PubMed: PPP4R1 [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 |
Top |
Exon skipping events across known transcript of Ensembl for PPP4R1 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 PPP4R1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for PPP4R1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_297945 | 18 | 9547801:9547950:9549194:9549336:9550049:9550184 | 9549194:9549336 | ENSG00000154845.11 | ENST00000582594.1,ENST00000285124.8,ENST00000579609.1,ENST00000400556.3,ENST00000400555.3 |
| exon_skip_297949 | 18 | 9550366:9550396:9553319:9553420:9557218:9557380 | 9553319:9553420 | ENSG00000154845.11 | ENST00000285124.8,ENST00000400556.3,ENST00000400555.3,ENST00000584754.1 |
| exon_skip_297955 | 18 | 9561980:9562073:9562919:9563044:9563375:9563548 | 9562919:9563044 | ENSG00000154845.11 | ENST00000285124.8 |
| exon_skip_297958 | 18 | 9563375:9563548:9570154:9570681:9577061:9577189 | 9570154:9570681 | ENSG00000154845.11 | ENST00000285124.8,ENST00000400556.3,ENST00000400555.3 |
| exon_skip_297960 | 18 | 9570154:9570681:9577061:9577189:9583114:9583273 | 9577061:9577189 | ENSG00000154845.11 | ENST00000285124.8,ENST00000400556.3,ENST00000400555.3 |
| exon_skip_297961 | 18 | 9577061:9577189:9583114:9583273:9584512:9584578 | 9583114:9583273 | ENSG00000154845.11 | ENST00000285124.8,ENST00000400556.3,ENST00000400555.3 |
| exon_skip_297966 | 18 | 9583114:9583273:9584512:9584578:9584718:9584826 | 9584512:9584578 | ENSG00000154845.11 | ENST00000285124.8,ENST00000400556.3,ENST00000400555.3 |
| exon_skip_297968 | 18 | 9584512:9584578:9584718:9584826:9588086:9588233 | 9584718:9584826 | ENSG00000154845.11 | ENST00000580583.1,ENST00000285124.8,ENST00000400556.3,ENST00000400555.3 |
| exon_skip_297971 | 18 | 9584773:9584826:9588086:9588233:9588708:9588851 | 9588086:9588233 | ENSG00000154845.11 | ENST00000580583.1,ENST00000285124.8,ENST00000400556.3,ENST00000400555.3,ENST00000578875.1 |
| exon_skip_297974 | 18 | 9588824:9588851:9593765:9593872:9595015:9595059 | 9593765:9593872 | ENSG00000154845.11 | ENST00000581835.1,ENST00000580583.1,ENST00000583092.1,ENST00000581250.1,ENST00000579415.1,ENST00000583903.1,ENST00000400556.3,ENST00000400555.3,ENST00000579638.1,ENST00000580745.1,ENST00000582933.1,ENST00000584074.1,ENST00000582240.1 |
| exon_skip_297979 | 18 | 9593765:9593872:9594176:9594232:9595015:9595059 | 9594176:9594232 | ENSG00000154845.11 | ENST00000580182.1 |
| exon_skip_297981 | 18 | 9593765:9593872:9595015:9595100:9614223:9614268 | 9595015:9595100 | ENSG00000154845.11 | ENST00000581835.1,ENST00000400555.3,ENST00000580745.1,ENST00000584074.1,ENST00000582240.1 |
| exon_skip_297982 | 18 | 9593765:9593872:9595015:9595151:9614223:9614268 | 9595015:9595151 | ENSG00000154845.11 | ENST00000581250.1,ENST00000400556.3 |
| exon_skip_297983 | 18 | 9595015:9595100:9612454:9612688:9614223:9614268 | 9612454:9612688 | ENSG00000154845.11 | ENST00000583092.1 |
| exon_skip_297985 | 18 | 9595015:9595100:9614223:9614268:9614475:9614503 | 9614223:9614268 | ENSG00000154845.11 | ENST00000580182.1,ENST00000285124.8,ENST00000400555.3,ENST00000578178.1,ENST00000577779.1 |
| exon_skip_297988 | 18 | 9595015:9595151:9614223:9614268:9614475:9614503 | 9614223:9614268 | ENSG00000154845.11 | ENST00000578875.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for PPP4R1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_297945 | 18 | 9547801:9547950:9549194:9549336:9550049:9550184 | 9549194:9549336 | ENSG00000154845.11 | ENST00000400556.3,ENST00000400555.3,ENST00000582594.1,ENST00000285124.8,ENST00000579609.1 |
| exon_skip_297949 | 18 | 9550366:9550396:9553319:9553420:9557218:9557380 | 9553319:9553420 | ENSG00000154845.11 | ENST00000400556.3,ENST00000400555.3,ENST00000285124.8,ENST00000584754.1 |
| exon_skip_297955 | 18 | 9561980:9562073:9562919:9563044:9563375:9563548 | 9562919:9563044 | ENSG00000154845.11 | ENST00000285124.8 |
| exon_skip_297958 | 18 | 9563375:9563548:9570154:9570681:9577061:9577189 | 9570154:9570681 | ENSG00000154845.11 | ENST00000400556.3,ENST00000400555.3,ENST00000285124.8 |
| exon_skip_297960 | 18 | 9570154:9570681:9577061:9577189:9583114:9583273 | 9577061:9577189 | ENSG00000154845.11 | ENST00000400556.3,ENST00000400555.3,ENST00000285124.8 |
| exon_skip_297961 | 18 | 9577061:9577189:9583114:9583273:9584512:9584578 | 9583114:9583273 | ENSG00000154845.11 | ENST00000400556.3,ENST00000400555.3,ENST00000285124.8 |
| exon_skip_297966 | 18 | 9583114:9583273:9584512:9584578:9584718:9584826 | 9584512:9584578 | ENSG00000154845.11 | ENST00000400556.3,ENST00000400555.3,ENST00000285124.8 |
| exon_skip_297968 | 18 | 9584512:9584578:9584718:9584826:9588086:9588233 | 9584718:9584826 | ENSG00000154845.11 | ENST00000400556.3,ENST00000400555.3,ENST00000285124.8,ENST00000580583.1 |
| exon_skip_297971 | 18 | 9584773:9584826:9588086:9588233:9588708:9588851 | 9588086:9588233 | ENSG00000154845.11 | ENST00000400556.3,ENST00000400555.3,ENST00000285124.8,ENST00000580583.1,ENST00000578875.1 |
| exon_skip_297974 | 18 | 9588824:9588851:9593765:9593872:9595015:9595059 | 9593765:9593872 | ENSG00000154845.11 | ENST00000400556.3,ENST00000400555.3,ENST00000580583.1,ENST00000579638.1,ENST00000583903.1,ENST00000584074.1,ENST00000579415.1,ENST00000581250.1,ENST00000580745.1,ENST00000582933.1,ENST00000582240.1,ENST00000581835.1,ENST00000583092.1 |
| exon_skip_297979 | 18 | 9593765:9593872:9594176:9594232:9595015:9595059 | 9594176:9594232 | ENSG00000154845.11 | ENST00000580182.1 |
| exon_skip_297981 | 18 | 9593765:9593872:9595015:9595100:9614223:9614268 | 9595015:9595100 | ENSG00000154845.11 | ENST00000400555.3,ENST00000584074.1,ENST00000580745.1,ENST00000582240.1,ENST00000581835.1 |
| exon_skip_297982 | 18 | 9593765:9593872:9595015:9595151:9614223:9614268 | 9595015:9595151 | ENSG00000154845.11 | ENST00000400556.3,ENST00000581250.1 |
| exon_skip_297983 | 18 | 9595015:9595100:9612454:9612688:9614223:9614268 | 9612454:9612688 | ENSG00000154845.11 | ENST00000583092.1 |
| exon_skip_297988 | 18 | 9595015:9595151:9614223:9614268:9614475:9614503 | 9614223:9614268 | ENSG00000154845.11 | ENST00000578875.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PPP4R1 |
| 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 |
| ENST00000400556 | 9549194 | 9549336 | Frame-shift |
| ENST00000400556 | 9553319 | 9553420 | Frame-shift |
| ENST00000400556 | 9570154 | 9570681 | Frame-shift |
| ENST00000400556 | 9577061 | 9577189 | Frame-shift |
| ENST00000400556 | 9593765 | 9593872 | Frame-shift |
| ENST00000400556 | 9595015 | 9595151 | Frame-shift |
| ENST00000400556 | 9583114 | 9583273 | In-frame |
| ENST00000400556 | 9584512 | 9584578 | In-frame |
| ENST00000400556 | 9584718 | 9584826 | In-frame |
| ENST00000400556 | 9588086 | 9588233 | 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 |
| ENST00000400556 | 9549194 | 9549336 | Frame-shift |
| ENST00000400556 | 9553319 | 9553420 | Frame-shift |
| ENST00000400556 | 9570154 | 9570681 | Frame-shift |
| ENST00000400556 | 9577061 | 9577189 | Frame-shift |
| ENST00000400556 | 9593765 | 9593872 | Frame-shift |
| ENST00000400556 | 9595015 | 9595151 | Frame-shift |
| ENST00000400556 | 9583114 | 9583273 | In-frame |
| ENST00000400556 | 9584512 | 9584578 | In-frame |
| ENST00000400556 | 9584718 | 9584826 | In-frame |
| ENST00000400556 | 9588086 | 9588233 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PPP4R1 |
| 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 |
| ENST00000400556 | 3942 | 950 | 9588086 | 9588233 | 513 | 659 | 146 | 195 |
| ENST00000400556 | 3942 | 950 | 9584718 | 9584826 | 660 | 767 | 195 | 231 |
| ENST00000400556 | 3942 | 950 | 9584512 | 9584578 | 768 | 833 | 231 | 253 |
| ENST00000400556 | 3942 | 950 | 9583114 | 9583273 | 834 | 992 | 253 | 306 |
| 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 |
| ENST00000400556 | 3942 | 950 | 9588086 | 9588233 | 513 | 659 | 146 | 195 |
| ENST00000400556 | 3942 | 950 | 9584718 | 9584826 | 660 | 767 | 195 | 231 |
| ENST00000400556 | 3942 | 950 | 9584512 | 9584578 | 768 | 833 | 231 | 253 |
| ENST00000400556 | 3942 | 950 | 9583114 | 9583273 | 834 | 992 | 253 | 306 |
| 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 |
| Q8TF05 | 146 | 195 | 1 | 950 | Chain | ID=PRO_0000071527;Note=Serine/threonine-protein phosphatase 4 regulatory subunit 1 |
| Q8TF05 | 146 | 195 | 127 | 164 | Repeat | Note=HEAT 5 |
| Q8TF05 | 146 | 195 | 168 | 206 | Repeat | Note=HEAT 6 |
| Q8TF05 | 195 | 231 | 1 | 950 | Chain | ID=PRO_0000071527;Note=Serine/threonine-protein phosphatase 4 regulatory subunit 1 |
| Q8TF05 | 195 | 231 | 168 | 206 | Repeat | Note=HEAT 6 |
| Q8TF05 | 195 | 231 | 208 | 246 | Repeat | Note=HEAT 7 |
| Q8TF05 | 231 | 253 | 1 | 950 | Chain | ID=PRO_0000071527;Note=Serine/threonine-protein phosphatase 4 regulatory subunit 1 |
| Q8TF05 | 231 | 253 | 208 | 246 | Repeat | Note=HEAT 7 |
| Q8TF05 | 231 | 253 | 248 | 285 | Repeat | Note=HEAT 8 |
| Q8TF05 | 253 | 306 | 1 | 950 | Chain | ID=PRO_0000071527;Note=Serine/threonine-protein phosphatase 4 regulatory subunit 1 |
| Q8TF05 | 253 | 306 | 248 | 285 | Repeat | Note=HEAT 8 |
| Q8TF05 | 253 | 306 | 287 | 324 | Repeat | Note=HEAT 9 |
| 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 |
| Q8TF05 | 146 | 195 | 1 | 950 | Chain | ID=PRO_0000071527;Note=Serine/threonine-protein phosphatase 4 regulatory subunit 1 |
| Q8TF05 | 146 | 195 | 127 | 164 | Repeat | Note=HEAT 5 |
| Q8TF05 | 146 | 195 | 168 | 206 | Repeat | Note=HEAT 6 |
| Q8TF05 | 195 | 231 | 1 | 950 | Chain | ID=PRO_0000071527;Note=Serine/threonine-protein phosphatase 4 regulatory subunit 1 |
| Q8TF05 | 195 | 231 | 168 | 206 | Repeat | Note=HEAT 6 |
| Q8TF05 | 195 | 231 | 208 | 246 | Repeat | Note=HEAT 7 |
| Q8TF05 | 231 | 253 | 1 | 950 | Chain | ID=PRO_0000071527;Note=Serine/threonine-protein phosphatase 4 regulatory subunit 1 |
| Q8TF05 | 231 | 253 | 208 | 246 | Repeat | Note=HEAT 7 |
| Q8TF05 | 231 | 253 | 248 | 285 | Repeat | Note=HEAT 8 |
| Q8TF05 | 253 | 306 | 1 | 950 | Chain | ID=PRO_0000071527;Note=Serine/threonine-protein phosphatase 4 regulatory subunit 1 |
| Q8TF05 | 253 | 306 | 248 | 285 | Repeat | Note=HEAT 8 |
| Q8TF05 | 253 | 306 | 287 | 324 | Repeat | Note=HEAT 9 |
Top |
SNVs in the skipped exons for PPP4R1 |
| - 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. |
PPP4R1_COAD_exon_skip_297958_psi_boxplot.png |
PPP4R1_HNSC_exon_skip_297958_psi_boxplot.png |
PPP4R1_LIHC_exon_skip_297958_psi_boxplot.png |
PPP4R1_LUSC_exon_skip_297961_psi_boxplot.png |
PPP4R1_SKCM_exon_skip_297961_psi_boxplot.png |
| - 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-5U-AB0D-01 | exon_skip_297949 | 9553320 | 9553420 | 9553368 | 9553368 | Frame_Shift_Del | A | - | p.L748fs |
| COAD | TCGA-AM-5820-01 | exon_skip_297958 | 9570155 | 9570681 | 9570385 | 9570386 | Frame_Shift_Del | AA | - | p.431_431del |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_297958 | 9570155 | 9570681 | 9570450 | 9570450 | Frame_Shift_Del | T | - | p.K426fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_297960 | 9577062 | 9577189 | 9577142 | 9577142 | Frame_Shift_Del | A | - | p.F322fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_297960 | 9577062 | 9577189 | 9577142 | 9577142 | Frame_Shift_Del | A | - | p.F322fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_297960 | 9577062 | 9577189 | 9577142 | 9577142 | Frame_Shift_Del | A | - | p.F322fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_297960 | 9577062 | 9577189 | 9577161 | 9577161 | Frame_Shift_Del | C | - | p.G316fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_297960 | 9577062 | 9577189 | 9577172 | 9577172 | Frame_Shift_Del | A | - | p.F312fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_297961 | 9583115 | 9583273 | 9583260 | 9583260 | Frame_Shift_Del | A | - | p.F258fs |
| LUSC | TCGA-18-4086-01 | exon_skip_297961 | 9583115 | 9583273 | 9583268 | 9583268 | Frame_Shift_Del | G | - | p.P255fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_297971 | 9588087 | 9588233 | 9588124 | 9588124 | Frame_Shift_Del | G | - | p.P183fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_297958 | 9570155 | 9570681 | 9570354 | 9570355 | Frame_Shift_Ins | - | A | p.L458fs |
| BLCA | TCGA-FJ-A3ZF-01 | exon_skip_297949 | 9553320 | 9553420 | 9553378 | 9553378 | Nonsense_Mutation | G | A | p.Q745* |
| HNSC | TCGA-CN-4723-01 | exon_skip_297958 | 9570155 | 9570681 | 9570206 | 9570206 | Nonsense_Mutation | C | A | p.E508* |
| BLCA | TCGA-FD-A43P-01 | exon_skip_297958 | 9570155 | 9570681 | 9570272 | 9570272 | Nonsense_Mutation | C | A | p.E486* |
| HNSC | TCGA-D6-6516-01 | exon_skip_297958 | 9570155 | 9570681 | 9570373 | 9570373 | Nonsense_Mutation | A | T | p.L452* |
| GBM | TCGA-06-5412-01 | exon_skip_297958 | 9570155 | 9570681 | 9570482 | 9570482 | Nonsense_Mutation | G | A | p.Q416* |
| COAD | TCGA-A6-6141-01 | exon_skip_297960 | 9577062 | 9577189 | 9577075 | 9577075 | Nonsense_Mutation | C | A | p.E345X |
| COAD | TCGA-DM-A0XF-01 | exon_skip_297961 | 9583115 | 9583273 | 9583190 | 9583190 | Nonsense_Mutation | A | T | p.C281X |
| SKCM | TCGA-W3-AA1V-06 | exon_skip_297961 | 9583115 | 9583273 | 9583228 | 9583228 | Nonsense_Mutation | G | A | p.R269* |
| HNSC | TCGA-MT-A67F-01 | exon_skip_297968 | 9584719 | 9584826 | 9584724 | 9584724 | Nonsense_Mutation | G | A | p.R230* |
| BLCA | TCGA-DK-AA6P-01 | exon_skip_297981 | 9595016 | 9595100 | 9595085 | 9595085 | Nonsense_Mutation | G | C | p.S40* |
| BLCA | TCGA-DK-AA6P-01 | exon_skip_297982 | 9595016 | 9595151 | 9595085 | 9595085 | Nonsense_Mutation | G | C | p.S40* |
| BLCA | TCGA-HQ-A5NE-01 | exon_skip_297982 | 9595016 | 9595151 | 9595103 | 9595103 | Nonsense_Mutation | G | C | p.S34* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-W3-AA1V-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_297961 | |
| Skipped exon start: 9583115 | |
| Skipped exon end: 9583273 | |
| Mutation start: 9583228 | |
| Mutation end: 9583228 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R269* | |
exon_skip_286364_SKCM_TCGA-W3-AA1V-06.png | |
exon_skip_297961_SKCM_TCGA-W3-AA1V-06.png | |
exon_skip_316320_SKCM_TCGA-W3-AA1V-06.png | |
exon_skip_330837_SKCM_TCGA-W3-AA1V-06.png | |
exon_skip_349643_SKCM_TCGA-W3-AA1V-06.png | |
exon_skip_349644_SKCM_TCGA-W3-AA1V-06.png | |
exon_skip_463424_SKCM_TCGA-W3-AA1V-06.png | |
exon_skip_478361_SKCM_TCGA-W3-AA1V-06.png | |
 | Sample: TCGA-CN-4723-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_297958 | |
| Skipped exon start: 9570155 | |
| Skipped exon end: 9570681 | |
| Mutation start: 9570206 | |
| Mutation end: 9570206 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E508* | |
exon_skip_108078_HNSC_TCGA-CN-4723-01.png | |
exon_skip_297958_HNSC_TCGA-CN-4723-01.png | |
exon_skip_390969_HNSC_TCGA-CN-4723-01.png | |
| - 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 |
| 639V_URINARY_TRACT | 9577062 | 9577189 | 9577112 | 9577112 | Frame_Shift_Del | A | - | p.F332fs |
| CORL311_LUNG | 9549195 | 9549336 | 9549324 | 9549324 | Missense_Mutation | C | A | p.D854Y |
| PECAPJ49_UPPER_AERODIGESTIVE_TRACT | 9570155 | 9570681 | 9570326 | 9570326 | Missense_Mutation | G | C | p.L468V |
| BT20_BREAST | 9570155 | 9570681 | 9570340 | 9570340 | Missense_Mutation | A | C | p.L463R |
| MELJUSO_SKIN | 9570155 | 9570681 | 9570359 | 9570359 | Missense_Mutation | G | A | p.H457Y |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9570155 | 9570681 | 9570376 | 9570376 | Missense_Mutation | T | C | p.E451G |
| SNU182_LIVER | 9570155 | 9570681 | 9570458 | 9570458 | Missense_Mutation | C | T | p.D424N |
| R262_CENTRAL_NERVOUS_SYSTEM | 9570155 | 9570681 | 9570459 | 9570459 | Missense_Mutation | A | C | p.N423K |
| U251MG_CENTRAL_NERVOUS_SYSTEM | 9570155 | 9570681 | 9570459 | 9570459 | Missense_Mutation | A | C | p.N423K |
| JAR_PLACENTA | 9570155 | 9570681 | 9570502 | 9570502 | Missense_Mutation | G | T | p.T409N |
| SW1088_CENTRAL_NERVOUS_SYSTEM | 9570155 | 9570681 | 9570503 | 9570503 | Missense_Mutation | T | C | p.T409A |
| HCC56_LARGE_INTESTINE | 9570155 | 9570681 | 9570590 | 9570590 | Missense_Mutation | C | G | p.E380Q |
| GIMEN_AUTONOMIC_GANGLIA | 9577062 | 9577189 | 9577070 | 9577070 | Missense_Mutation | G | T | p.N346K |
| RHJT_SOFT_TISSUE | 9577062 | 9577189 | 9577070 | 9577070 | Missense_Mutation | G | T | p.N346K |
| TTC549_SOFT_TISSUE | 9577062 | 9577189 | 9577070 | 9577070 | Missense_Mutation | G | T | p.N346K |
| OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9583115 | 9583273 | 9583119 | 9583119 | Missense_Mutation | C | T | p.R305H |
| HCT15_LARGE_INTESTINE | 9583115 | 9583273 | 9583255 | 9583255 | Missense_Mutation | G | T | p.L260I |
| HOP92_LUNG | 9583115 | 9583273 | 9583256 | 9583256 | Missense_Mutation | C | A | p.Q259H |
| HS706T_BONE | 9584513 | 9584578 | 9584565 | 9584565 | Missense_Mutation | T | C | p.N236S |
| IM9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9584719 | 9584826 | 9584730 | 9584730 | Missense_Mutation | G | A | p.H228Y |
| HEC108_ENDOMETRIUM | 9584719 | 9584826 | 9584741 | 9584741 | Missense_Mutation | C | T | p.C224Y |
| 59M_OVARY | 9584719 | 9584826 | 9584777 | 9584777 | Missense_Mutation | A | T | p.L212H |
| SW684_SOFT_TISSUE | 9584719 | 9584826 | 9584778 | 9584778 | Missense_Mutation | G | A | p.L212F |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9584719 | 9584826 | 9584781 | 9584781 | Missense_Mutation | G | A | p.R211C |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9584719 | 9584826 | 9584781 | 9584781 | Missense_Mutation | G | A | p.R211C |
| SNU719_STOMACH | 9588087 | 9588233 | 9588133 | 9588133 | Missense_Mutation | A | G | p.L180P |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9595016 | 9595151 | 9595026 | 9595026 | Missense_Mutation | T | C | p.I60V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9595016 | 9595100 | 9595026 | 9595026 | Missense_Mutation | T | C | p.I60V |
| KYSE270_OESOPHAGUS | 9595016 | 9595151 | 9595073 | 9595073 | Missense_Mutation | A | G | p.M44T |
| KYSE270_OESOPHAGUS | 9595016 | 9595100 | 9595073 | 9595073 | Missense_Mutation | A | G | p.M44T |
| HT115_LARGE_INTESTINE | 9595016 | 9595151 | 9595133 | 9595133 | Missense_Mutation | C | T | p.S24N |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9595016 | 9595151 | 9595148 | 9595148 | Missense_Mutation | C | T | p.G19D |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 9595016 | 9595151 | 9595148 | 9595148 | Missense_Mutation | C | T | p.G19D |
| HT115_LARGE_INTESTINE | 9553320 | 9553420 | 9553336 | 9553336 | Nonsense_Mutation | G | A | p.R759* |
| MEWO_SKIN | 9577062 | 9577189 | 9577171 | 9577171 | Nonsense_Mutation | G | A | p.Q313* |
| NOS1_BONE | 9549195 | 9549336 | 9549195 | 9549195 | Splice_Site | C | G | p.D897H |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPP4R1 |
| 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 PPP4R1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PPP4R1 |
Top |
RelatedDrugs for PPP4R1 |
| 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 PPP4R1 |
| 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)
|