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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 PPP6C |
 Gene summary |
| Gene information | Gene symbol | PPP6C | Gene ID | 5537 |
| Gene name | protein phosphatase 6 catalytic subunit | |
| Synonyms | PP6|PP6C | |
| Cytomap | 9q33.3 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein phosphatase 6 catalytic subunitserine/threonine protein phosphatase catalytic subunit | |
| Modification date | 20180519 | |
| UniProtAcc | O00743 | |
| Context | PubMed: PPP6C [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 |
| PPP6C | GO:0006470 | protein dephosphorylation | 16716191 |
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Exon skipping events across known transcript of Ensembl for PPP6C 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 PPP6C |
| 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 PPP6C |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_506895 | 9 | 127911775:127912200:127915811:127916021:127916184:127916264 | 127915811:127916021 | ENSG00000119414.7 | ENST00000373546.3,ENST00000373547.4,ENST00000415905.1,ENST00000451402.1 |
| exon_skip_506896 | 9 | 127916232:127916264:127920519:127920661:127923119:127923185 | 127920519:127920661 | ENSG00000119414.7 | ENST00000373547.4,ENST00000456642.1,ENST00000451402.1 |
| exon_skip_506897 | 9 | 127916232:127916264:127920519:127920661:127933363:127933459 | 127920519:127920661 | ENSG00000119414.7 | ENST00000415905.1 |
| exon_skip_506900 | 9 | 127916232:127916264:127933363:127933459:127951922:127952062 | 127933363:127933459 | ENSG00000119414.7 | ENST00000373546.3 |
| exon_skip_506902 | 9 | 127920519:127920661:127923119:127923185:127933363:127933459 | 127923119:127923185 | ENSG00000119414.7 | ENST00000373547.4,ENST00000456642.1,ENST00000451402.1 |
| exon_skip_506907 | 9 | 127933363:127933459:127934187:127934280:127951922:127952062 | 127934187:127934280 | ENSG00000119414.7 | ENST00000456642.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PPP6C |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_506895 | 9 | 127911775:127912200:127915811:127916021:127916184:127916264 | 127915811:127916021 | ENSG00000119414.7 | ENST00000373547.4,ENST00000451402.1,ENST00000415905.1,ENST00000373546.3 |
| exon_skip_506896 | 9 | 127916232:127916264:127920519:127920661:127923119:127923185 | 127920519:127920661 | ENSG00000119414.7 | ENST00000373547.4,ENST00000451402.1,ENST00000456642.1 |
| exon_skip_506897 | 9 | 127916232:127916264:127920519:127920661:127933363:127933459 | 127920519:127920661 | ENSG00000119414.7 | ENST00000415905.1 |
| exon_skip_506900 | 9 | 127916232:127916264:127933363:127933459:127951922:127952062 | 127933363:127933459 | ENSG00000119414.7 | ENST00000373546.3 |
| exon_skip_506902 | 9 | 127920519:127920661:127923119:127923185:127933363:127933459 | 127923119:127923185 | ENSG00000119414.7 | ENST00000373547.4,ENST00000451402.1,ENST00000456642.1 |
| exon_skip_506907 | 9 | 127933363:127933459:127934187:127934280:127951922:127952062 | 127934187:127934280 | ENSG00000119414.7 | ENST00000456642.1 |
| 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 PPP6C |
| 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 |
| ENST00000373547 | 127920519 | 127920661 | Frame-shift |
| ENST00000373547 | 127915811 | 127916021 | In-frame |
| ENST00000373547 | 127923119 | 127923185 | 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 |
| ENST00000373547 | 127920519 | 127920661 | Frame-shift |
| ENST00000373547 | 127915811 | 127916021 | In-frame |
| ENST00000373547 | 127923119 | 127923185 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PPP6C |
| 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 |
| ENST00000373547 | 4135 | 305 | 127923119 | 127923185 | 272 | 337 | 57 | 79 |
| ENST00000373547 | 4135 | 305 | 127915811 | 127916021 | 560 | 769 | 153 | 223 |
| 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 |
| ENST00000373547 | 4135 | 305 | 127923119 | 127923185 | 272 | 337 | 57 | 79 |
| ENST00000373547 | 4135 | 305 | 127915811 | 127916021 | 560 | 769 | 153 | 223 |
| 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 |
| O00743 | 57 | 79 | 58 | 79 | Alternative sequence | ID=VSP_038376;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O00743 | 57 | 79 | 1 | 305 | Chain | ID=PRO_0000424504;Note=Serine/threonine-protein phosphatase 6 catalytic subunit |
| O00743 | 57 | 79 | 2 | 305 | Chain | ID=PRO_0000058877;Note=Serine/threonine-protein phosphatase 6 catalytic subunit%2C N-terminally processed |
| O00743 | 57 | 79 | 61 | 64 | Sequence conflict | Note=LCEL->AG;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O00743 | 153 | 223 | 1 | 305 | Chain | ID=PRO_0000424504;Note=Serine/threonine-protein phosphatase 6 catalytic subunit |
| O00743 | 153 | 223 | 2 | 305 | Chain | ID=PRO_0000058877;Note=Serine/threonine-protein phosphatase 6 catalytic subunit%2C N-terminally processed |
| O00743 | 153 | 223 | 163 | 163 | Metal binding | Note=Manganese 2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| O00743 | 57 | 79 | 58 | 79 | Alternative sequence | ID=VSP_038376;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O00743 | 57 | 79 | 1 | 305 | Chain | ID=PRO_0000424504;Note=Serine/threonine-protein phosphatase 6 catalytic subunit |
| O00743 | 57 | 79 | 2 | 305 | Chain | ID=PRO_0000058877;Note=Serine/threonine-protein phosphatase 6 catalytic subunit%2C N-terminally processed |
| O00743 | 57 | 79 | 61 | 64 | Sequence conflict | Note=LCEL->AG;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O00743 | 153 | 223 | 1 | 305 | Chain | ID=PRO_0000424504;Note=Serine/threonine-protein phosphatase 6 catalytic subunit |
| O00743 | 153 | 223 | 2 | 305 | Chain | ID=PRO_0000058877;Note=Serine/threonine-protein phosphatase 6 catalytic subunit%2C N-terminally processed |
| O00743 | 153 | 223 | 163 | 163 | Metal binding | Note=Manganese 2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for PPP6C |
| - 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. |
PPP6C_SKCM_exon_skip_506902_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 |
| UCEC | TCGA-D1-A174-01 | exon_skip_506897 exon_skip_506896 | 127920520 | 127920661 | 127920570 | 127920570 | Frame_Shift_Del | A | - | p.L147fs |
| CHOL | TCGA-W5-AA2Q-01 | exon_skip_506895 | 127915812 | 127916021 | 127915867 | 127915867 | Nonsense_Mutation | C | T | p.W242* |
| CHOL | TCGA-W5-AA2Q-01 | exon_skip_506895 | 127915812 | 127916021 | 127915867 | 127915867 | Nonsense_Mutation | C | T | p.W242X |
| SKCM | TCGA-GN-A267-06 | exon_skip_506895 | 127915812 | 127916021 | 127915934 | 127915934 | Nonsense_Mutation | G | A | p.Q161X |
| SKCM | TCGA-GN-A267-06 | exon_skip_506895 | 127915812 | 127916021 | 127915934 | 127915934 | Nonsense_Mutation | G | A | p.Q220* |
| READ | TCGA-EI-6917-01 | exon_skip_506895 | 127915812 | 127916021 | 127915952 | 127915952 | Nonsense_Mutation | G | A | p.R155X |
| SKCM | TCGA-EE-A2GD-06 | exon_skip_506895 | 127915812 | 127916021 | 127915952 | 127915952 | Nonsense_Mutation | G | A | p.R214* |
| SKCM | TCGA-HR-A2OG-06 | exon_skip_506895 | 127915812 | 127916021 | 127915952 | 127915952 | Nonsense_Mutation | G | A | p.R155X |
| SKCM | TCGA-HR-A2OG-06 | exon_skip_506895 | 127915812 | 127916021 | 127915952 | 127915952 | Nonsense_Mutation | G | A | p.R214* |
| KIRP | TCGA-SX-A7SR-01 | exon_skip_506895 | 127915812 | 127916021 | 127916020 | 127916020 | Nonsense_Mutation | A | T | p.L191X |
| LIHC | TCGA-CC-A7IK-01 | exon_skip_506897 exon_skip_506896 | 127920520 | 127920661 | 127920663 | 127920663 | Splice_Site | T | A | . |
| SKCM | TCGA-EE-A2ML-06 | exon_skip_506902 | 127923120 | 127923185 | 127923119 | 127923119 | Splice_Site | C | G | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EE-A2ML-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_506902 | |
| Skipped exon start: 127923120 | |
| Skipped exon end: 127923185 | |
| Mutation start: 127923119 | |
| Mutation end: 127923119 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: G | |
| AAchange: . | |
exon_skip_384539_SKCM_TCGA-EE-A2ML-06.png | |
exon_skip_384545_SKCM_TCGA-EE-A2ML-06.png | |
exon_skip_506902_SKCM_TCGA-EE-A2ML-06.png | |
 | Sample: TCGA-CC-A7IK-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_506896 | |
| Skipped exon start: 127920520 | |
| Skipped exon end: 127920661 | |
| Mutation start: 127920663 | |
| Mutation end: 127920663 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_456871_LIHC_TCGA-CC-A7IK-01.png | |
exon_skip_506896_LIHC_TCGA-CC-A7IK-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 |
| MM370_SKIN | 127915812 | 127916021 | 127915855 | 127915855 | Missense_Mutation | G | A | p.P209L |
| JHUEM7_ENDOMETRIUM | 127915812 | 127916021 | 127915943 | 127915943 | Missense_Mutation | C | T | p.E180K |
| HT115_LARGE_INTESTINE | 127915812 | 127916021 | 127915943 | 127915943 | Missense_Mutation | C | T | p.E180K |
| LB373MELD_SKIN | 127920520 | 127920661 | 127920559 | 127920559 | Missense_Mutation | G | A | p.H114Y |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 127920520 | 127920661 | 127920583 | 127920583 | Missense_Mutation | G | A | p.R106C |
| HUH1_LIVER | 127920520 | 127920661 | 127920585 | 127920585 | Missense_Mutation | T | G | p.D105A |
| HEC6_ENDOMETRIUM | 127920520 | 127920661 | 127920601 | 127920601 | Missense_Mutation | T | G | p.K100Q |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 127933364 | 127933459 | 127933423 | 127933423 | Missense_Mutation | C | T | p.E38K |
| EW22_BONE | 127933364 | 127933459 | 127933434 | 127933434 | Missense_Mutation | A | C | p.L34R |
| GP2D_LARGE_INTESTINE | 127923120 | 127923185 | 127923185 | 127923185 | Splice_Site | A | G | p.F58L |
| GP5D_LARGE_INTESTINE | 127923120 | 127923185 | 127923185 | 127923185 | Splice_Site | A | G | p.F58L |
| HEC251_ENDOMETRIUM | 127933364 | 127933459 | 127933365 | 127933365 | Splice_Site | T | C | p.Q57R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPP6C |
| 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 PPP6C |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PPP6C |
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RelatedDrugs for PPP6C |
| 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 PPP6C |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PPP6C | C0007117 | Basal cell carcinoma | 1 | CTD_human |
| PPP6C | C0025202 | melanoma | 1 | CTD_human |
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