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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 PPP1R21 |
 Gene summary |
| Gene information | Gene symbol | PPP1R21 | Gene ID | 129285 |
| Gene name | protein phosphatase 1 regulatory subunit 21 | |
| Synonyms | CCDC128|KLRAQ1 | |
| Cytomap | 2p16.3 | |
| Type of gene | protein-coding | |
| Description | protein phosphatase 1 regulatory subunit 21KLRAQ motif containing 1KLRAQ motif-containing protein 1coiled-coil domain containing 128coiled-coil domain-containing protein 128 | |
| Modification date | 20180519 | |
| UniProtAcc | Q6ZMI0 | |
| Context | PubMed: PPP1R21 [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 PPP1R21 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 PPP1R21 |
| 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 PPP1R21 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_325514 | 2 | 48667995:48668149:48678146:48678215:48681733:48681867 | 48678146:48678215 | ENSG00000162869.11 | ENST00000449090.2,ENST00000281394.4,ENST00000294952.8 |
| exon_skip_325515 | 2 | 48678146:48678215:48681694:48681880:48685264:48685366 | 48681694:48681880 | ENSG00000162869.11 | ENST00000416913.1 |
| exon_skip_325516 | 2 | 48678146:48678215:48681733:48681880:48685264:48685366 | 48681733:48681880 | ENSG00000162869.11 | ENST00000449090.2,ENST00000281394.4,ENST00000294952.8 |
| exon_skip_325518 | 2 | 48687233:48687292:48688276:48688371:48692075:48692128 | 48688276:48688371 | ENSG00000162869.11 | ENST00000431614.1,ENST00000449090.2,ENST00000281394.4,ENST00000416913.1,ENST00000294952.8 |
| exon_skip_325522 | 2 | 48692104:48692128:48692631:48692781:48698225:48698327 | 48692631:48692781 | ENSG00000162869.11 | ENST00000431614.1,ENST00000449090.2,ENST00000281394.4,ENST00000416913.1,ENST00000460299.1,ENST00000294952.8 |
| exon_skip_325527 | 2 | 48698225:48698327:48698417:48698506:48701821:48701958 | 48698417:48698506 | ENSG00000162869.11 | ENST00000431614.1,ENST00000449090.2,ENST00000281394.4,ENST00000416913.1,ENST00000294952.8 |
| exon_skip_325528 | 2 | 48698449:48698506:48701821:48701958:48707062:48707155 | 48701821:48701958 | ENSG00000162869.11 | ENST00000431614.1,ENST00000449090.2,ENST00000281394.4,ENST00000416913.1,ENST00000294952.8 |
| exon_skip_325530 | 2 | 48701826:48701958:48706622:48706695:48707062:48707155 | 48706622:48706695 | ENSG00000162869.11 | ENST00000455978.1 |
| exon_skip_325532 | 2 | 48713769:48713897:48718156:48718309:48722817:48722910 | 48718156:48718309 | ENSG00000162869.11 | ENST00000431614.1,ENST00000281394.4,ENST00000416913.1,ENST00000294952.8,ENST00000455978.1 |
| exon_skip_325533 | 2 | 48713769:48713897:48718156:48718309:48725631:48725640 | 48718156:48718309 | ENSG00000162869.11 | ENST00000449090.2 |
| exon_skip_325536 | 2 | 48718156:48718309:48722817:48722910:48725631:48725640 | 48722817:48722910 | ENSG00000162869.11 | ENST00000431614.1,ENST00000281394.4,ENST00000416913.1,ENST00000294952.8,ENST00000455978.1 |
| exon_skip_325539 | 2 | 48722817:48722910:48725631:48725874:48732702:48732735 | 48725631:48725874 | ENSG00000162869.11 | ENST00000431614.1,ENST00000416913.1,ENST00000294952.8 |
| exon_skip_325540 | 2 | 48725631:48725874:48732702:48732735:48734407:48734524 | 48732702:48732735 | ENSG00000162869.11 | ENST00000431614.1,ENST00000416913.1,ENST00000294952.8 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PPP1R21 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_325514 | 2 | 48667995:48668149:48678146:48678215:48681733:48681867 | 48678146:48678215 | ENSG00000162869.11 | ENST00000281394.4,ENST00000294952.8,ENST00000449090.2 |
| exon_skip_325515 | 2 | 48678146:48678215:48681694:48681880:48685264:48685366 | 48681694:48681880 | ENSG00000162869.11 | ENST00000416913.1 |
| exon_skip_325516 | 2 | 48678146:48678215:48681733:48681880:48685264:48685366 | 48681733:48681880 | ENSG00000162869.11 | ENST00000281394.4,ENST00000294952.8,ENST00000449090.2 |
| exon_skip_325518 | 2 | 48687233:48687292:48688276:48688371:48692075:48692128 | 48688276:48688371 | ENSG00000162869.11 | ENST00000431614.1,ENST00000416913.1,ENST00000281394.4,ENST00000294952.8,ENST00000449090.2 |
| exon_skip_325522 | 2 | 48692104:48692128:48692631:48692781:48698225:48698327 | 48692631:48692781 | ENSG00000162869.11 | ENST00000431614.1,ENST00000416913.1,ENST00000281394.4,ENST00000294952.8,ENST00000449090.2,ENST00000460299.1 |
| exon_skip_325527 | 2 | 48698225:48698327:48698417:48698506:48701821:48701958 | 48698417:48698506 | ENSG00000162869.11 | ENST00000431614.1,ENST00000416913.1,ENST00000281394.4,ENST00000294952.8,ENST00000449090.2 |
| exon_skip_325528 | 2 | 48698449:48698506:48701821:48701958:48707062:48707155 | 48701821:48701958 | ENSG00000162869.11 | ENST00000431614.1,ENST00000416913.1,ENST00000281394.4,ENST00000294952.8,ENST00000449090.2 |
| exon_skip_325530 | 2 | 48701826:48701958:48706622:48706695:48707062:48707155 | 48706622:48706695 | ENSG00000162869.11 | ENST00000455978.1 |
| exon_skip_325532 | 2 | 48713769:48713897:48718156:48718309:48722817:48722910 | 48718156:48718309 | ENSG00000162869.11 | ENST00000431614.1,ENST00000416913.1,ENST00000281394.4,ENST00000294952.8,ENST00000455978.1 |
| exon_skip_325533 | 2 | 48713769:48713897:48718156:48718309:48725631:48725640 | 48718156:48718309 | ENSG00000162869.11 | ENST00000449090.2 |
| exon_skip_325536 | 2 | 48718156:48718309:48722817:48722910:48725631:48725640 | 48722817:48722910 | ENSG00000162869.11 | ENST00000431614.1,ENST00000416913.1,ENST00000281394.4,ENST00000294952.8,ENST00000455978.1 |
| exon_skip_325539 | 2 | 48722817:48722910:48725631:48725874:48732702:48732735 | 48725631:48725874 | ENSG00000162869.11 | ENST00000431614.1,ENST00000416913.1,ENST00000294952.8 |
| exon_skip_325540 | 2 | 48725631:48725874:48732702:48732735:48734407:48734524 | 48732702:48732735 | ENSG00000162869.11 | ENST00000431614.1,ENST00000416913.1,ENST00000294952.8 |
| 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 PPP1R21 |
| 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 |
| ENST00000294952 | 48688276 | 48688371 | Frame-shift |
| ENST00000294952 | 48698417 | 48698506 | Frame-shift |
| ENST00000294952 | 48701821 | 48701958 | Frame-shift |
| ENST00000294952 | 48678146 | 48678215 | In-frame |
| ENST00000294952 | 48681733 | 48681880 | In-frame |
| ENST00000294952 | 48692631 | 48692781 | In-frame |
| ENST00000294952 | 48718156 | 48718309 | In-frame |
| ENST00000294952 | 48722817 | 48722910 | In-frame |
| ENST00000294952 | 48725631 | 48725874 | In-frame |
| ENST00000294952 | 48732702 | 48732735 | 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 |
| ENST00000294952 | 48688276 | 48688371 | Frame-shift |
| ENST00000294952 | 48698417 | 48698506 | Frame-shift |
| ENST00000294952 | 48701821 | 48701958 | Frame-shift |
| ENST00000294952 | 48678146 | 48678215 | In-frame |
| ENST00000294952 | 48681733 | 48681880 | In-frame |
| ENST00000294952 | 48692631 | 48692781 | In-frame |
| ENST00000294952 | 48718156 | 48718309 | In-frame |
| ENST00000294952 | 48722817 | 48722910 | In-frame |
| ENST00000294952 | 48725631 | 48725874 | In-frame |
| ENST00000294952 | 48732702 | 48732735 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PPP1R21 |
| 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 |
| ENST00000294952 | 3159 | 780 | 48678146 | 48678215 | 215 | 283 | 19 | 42 |
| ENST00000294952 | 3159 | 780 | 48681733 | 48681880 | 284 | 430 | 42 | 91 |
| ENST00000294952 | 3159 | 780 | 48692631 | 48692781 | 905 | 1054 | 249 | 299 |
| ENST00000294952 | 3159 | 780 | 48718156 | 48718309 | 1604 | 1756 | 482 | 533 |
| ENST00000294952 | 3159 | 780 | 48722817 | 48722910 | 1757 | 1849 | 533 | 564 |
| ENST00000294952 | 3159 | 780 | 48725631 | 48725874 | 1850 | 2092 | 564 | 645 |
| ENST00000294952 | 3159 | 780 | 48732702 | 48732735 | 2093 | 2125 | 645 | 656 |
| 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 |
| ENST00000294952 | 3159 | 780 | 48678146 | 48678215 | 215 | 283 | 19 | 42 |
| ENST00000294952 | 3159 | 780 | 48681733 | 48681880 | 284 | 430 | 42 | 91 |
| ENST00000294952 | 3159 | 780 | 48692631 | 48692781 | 905 | 1054 | 249 | 299 |
| ENST00000294952 | 3159 | 780 | 48718156 | 48718309 | 1604 | 1756 | 482 | 533 |
| ENST00000294952 | 3159 | 780 | 48722817 | 48722910 | 1757 | 1849 | 533 | 564 |
| ENST00000294952 | 3159 | 780 | 48725631 | 48725874 | 1850 | 2092 | 564 | 645 |
| ENST00000294952 | 3159 | 780 | 48732702 | 48732735 | 2093 | 2125 | 645 | 656 |
| 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 PPP1R21 |
| - 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. |
PPP1R21_SKCM_exon_skip_325522_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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_325514 | 48678147 | 48678215 | 48678171 | 48678171 | Frame_Shift_Del | A | - | p.K29fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_325518 | 48688277 | 48688371 | 48688348 | 48688348 | Frame_Shift_Del | A | - | p.E224fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_325522 | 48692632 | 48692781 | 48692732 | 48692732 | Frame_Shift_Del | T | - | p.I283fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_325527 | 48698418 | 48698506 | 48698441 | 48698441 | Frame_Shift_Del | T | - | p.T341fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_325528 | 48701822 | 48701958 | 48701898 | 48701898 | Frame_Shift_Del | A | - | p.K390fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_325528 | 48701822 | 48701958 | 48701898 | 48701898 | Frame_Shift_Del | A | - | p.K390fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_325528 | 48701822 | 48701958 | 48701898 | 48701898 | Frame_Shift_Del | A | - | p.K390fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_325533 exon_skip_325532 | 48718157 | 48718309 | 48718274 | 48718274 | Frame_Shift_Del | A | - | p.K523fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_325533 exon_skip_325532 | 48718157 | 48718309 | 48718274 | 48718274 | Frame_Shift_Del | A | - | p.K523fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_325533 exon_skip_325532 | 48718157 | 48718309 | 48718274 | 48718274 | Frame_Shift_Del | A | - | p.K523fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_325539 | 48725632 | 48725874 | 48725672 | 48725672 | Frame_Shift_Del | A | - | p.E578fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_325539 | 48725632 | 48725874 | 48725707 | 48725707 | Frame_Shift_Del | A | - | p.K590fs |
| LUSC | TCGA-18-3409-01 | exon_skip_325515 | 48681695 | 48681880 | 48681800 | 48681800 | Nonsense_Mutation | C | T | p.R65* |
| LUSC | TCGA-18-3409-01 | exon_skip_325516 | 48681734 | 48681880 | 48681800 | 48681800 | Nonsense_Mutation | C | T | p.R65* |
| ESCA | TCGA-L5-A8NQ-01 | exon_skip_325518 | 48688277 | 48688371 | 48688336 | 48688336 | Nonsense_Mutation | C | A | p.S220X |
| LUSC | TCGA-39-5031-01 | exon_skip_325518 | 48688277 | 48688371 | 48688336 | 48688336 | Nonsense_Mutation | C | G | p.S220* |
| HNSC | TCGA-CN-4723-01 | exon_skip_325527 | 48698418 | 48698506 | 48698496 | 48698496 | Nonsense_Mutation | C | T | p.Q360* |
| CESC | TCGA-UC-A7PD-01 | exon_skip_325539 | 48725632 | 48725874 | 48725635 | 48725635 | Nonsense_Mutation | C | T | p.Q566* |
| SKCM | TCGA-EE-A2A2-06 | exon_skip_325522 | 48692632 | 48692781 | 48692631 | 48692631 | Splice_Site | G | - | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EE-A2A2-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_325522 | |
| Skipped exon start: 48692632 | |
| Skipped exon end: 48692781 | |
| Mutation start: 48692631 | |
| Mutation end: 48692631 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: . | |
exon_skip_303493_SKCM_TCGA-EE-A2A2-06.png | |
exon_skip_314480_SKCM_TCGA-EE-A2A2-06.png | |
exon_skip_318867_SKCM_TCGA-EE-A2A2-06.png | |
exon_skip_325522_SKCM_TCGA-EE-A2A2-06.png | |
exon_skip_457065_SKCM_TCGA-EE-A2A2-06.png | |
exon_skip_490350_SKCM_TCGA-EE-A2A2-06.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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 48678147 | 48678215 | 48678193 | 48678194 | Frame_Shift_Ins | - | GGCC | p.-36fs |
| HCC2450_LUNG | 48681734 | 48681880 | 48681739 | 48681739 | Missense_Mutation | A | T | p.Q44H |
| HCC2450_LUNG | 48681695 | 48681880 | 48681739 | 48681739 | Missense_Mutation | A | T | p.Q44H |
| NCIH513_PLEURA | 48681734 | 48681880 | 48681748 | 48681748 | Missense_Mutation | G | A | p.M47I |
| NCIH513_PLEURA | 48681695 | 48681880 | 48681748 | 48681748 | Missense_Mutation | G | A | p.M47I |
| HEC251_ENDOMETRIUM | 48681734 | 48681880 | 48681801 | 48681801 | Missense_Mutation | G | A | p.R65Q |
| HEC251_ENDOMETRIUM | 48681695 | 48681880 | 48681801 | 48681801 | Missense_Mutation | G | A | p.R65Q |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48688277 | 48688371 | 48688294 | 48688294 | Missense_Mutation | C | A | p.T206N |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 48688277 | 48688371 | 48688294 | 48688294 | Missense_Mutation | C | A | p.T206N |
| EN_ENDOMETRIUM | 48688277 | 48688371 | 48688297 | 48688297 | Missense_Mutation | T | G | p.L207R |
| NCIH2023_LUNG | 48692632 | 48692781 | 48692730 | 48692730 | Missense_Mutation | A | C | p.Q282H |
| SKMEL5_SKIN | 48692632 | 48692781 | 48692767 | 48692767 | Missense_Mutation | C | T | p.P295S |
| HEC251_ENDOMETRIUM | 48698418 | 48698506 | 48698483 | 48698483 | Missense_Mutation | G | T | p.K355N |
| DIPG007_CENTRAL_NERVOUS_SYSTEM | 48701822 | 48701958 | 48701842 | 48701842 | Missense_Mutation | C | A | p.S370Y |
| HEC108_ENDOMETRIUM | 48718157 | 48718309 | 48718261 | 48718261 | Missense_Mutation | G | A | p.M517I |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48718157 | 48718309 | 48718289 | 48718289 | Missense_Mutation | T | C | p.Y527H |
| WM88_SKIN | 48718157 | 48718309 | 48718299 | 48718299 | Missense_Mutation | C | T | p.S530F |
| PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48722818 | 48722910 | 48722882 | 48722882 | Missense_Mutation | C | T | p.T555I |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48722818 | 48722910 | 48722891 | 48722891 | Missense_Mutation | G | A | p.R558Q |
| SUIT2_PANCREAS | 48725632 | 48725874 | 48725707 | 48725707 | Missense_Mutation | A | G | p.K590E |
| BHY_UPPER_AERODIGESTIVE_TRACT | 48718157 | 48718309 | 48718229 | 48718229 | Nonsense_Mutation | G | T | p.G507* |
| KYSE70_OESOPHAGUS | 48725632 | 48725874 | 48725665 | 48725665 | Nonsense_Mutation | G | T | p.E576* |
| SNU81_LARGE_INTESTINE | 48725632 | 48725874 | 48725677 | 48725677 | Nonsense_Mutation | G | T | p.E580* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPP1R21 |
| 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 PPP1R21 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PPP1R21 |
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RelatedDrugs for PPP1R21 |
| 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 PPP1R21 |
| 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)
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