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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 PPM1N |
Gene summary |
Gene information | Gene symbol | PPM1N | Gene ID | 147699 |
Gene name | protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) | |
Synonyms | - | |
Cytomap | 19q13.32 | |
Type of gene | protein-coding | |
Description | probable protein phosphatase 1N | |
Modification date | 20180329 | |
UniProtAcc | Q8N819 | |
Context | PubMed: PPM1N [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 PPM1N 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 PPM1N |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PPM1N |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_308397 | 19 | 46000508:46000601:46003206:46003324:46003713:46003819 | 46003206:46003324 | ENSG00000213889.6 | ENST00000396737.2 |
exon_skip_308399 | 19 | 46000508:46000601:46003211:46003324:46003713:46003819 | 46003211:46003324 | ENSG00000213889.6 | ENST00000456399.2 |
exon_skip_308402 | 19 | 46002867:46002983:46003206:46003324:46003713:46003819 | 46003206:46003324 | ENSG00000213889.6 | ENST00000396735.2 |
exon_skip_308410 | 19 | 46003218:46003324:46003713:46003819:46003907:46003968 | 46003713:46003819 | ENSG00000213889.6 | ENST00000396735.2,ENST00000415077.1,ENST00000451287.2,ENST00000396737.2,ENST00000401705.1,ENST00000324688.4 |
exon_skip_308411 | 19 | 46003218:46003324:46003713:46003819:46005274:46005343 | 46003713:46003819 | ENSG00000213889.6 | ENST00000456399.2 |
exon_skip_308415 | 19 | 46003713:46003819:46003907:46003968:46005274:46005343 | 46003907:46003968 | ENSG00000213889.6 | ENST00000396735.2,ENST00000415077.1,ENST00000451287.2,ENST00000396737.2,ENST00000401705.1,ENST00000324688.4 |
exon_skip_308417 | 19 | 46003713:46003819:46003938:46003968:46005274:46005343 | 46003938:46003968 | ENSG00000213889.6 | ENST00000401593.1 |
exon_skip_308418 | 19 | 46003713:46003819:46003947:46003968:46005274:46005343 | 46003947:46003968 | ENSG00000213889.6 | ENST00000396736.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PPM1N |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_308397 | 19 | 46000508:46000601:46003206:46003324:46003713:46003819 | 46003206:46003324 | ENSG00000213889.6 | ENST00000396737.2 |
exon_skip_308399 | 19 | 46000508:46000601:46003211:46003324:46003713:46003819 | 46003211:46003324 | ENSG00000213889.6 | ENST00000456399.2 |
exon_skip_308402 | 19 | 46002867:46002983:46003206:46003324:46003713:46003819 | 46003206:46003324 | ENSG00000213889.6 | ENST00000396735.2 |
exon_skip_308410 | 19 | 46003218:46003324:46003713:46003819:46003907:46003968 | 46003713:46003819 | ENSG00000213889.6 | ENST00000401705.1,ENST00000396737.2,ENST00000451287.2,ENST00000415077.1,ENST00000324688.4,ENST00000396735.2 |
exon_skip_308415 | 19 | 46003713:46003819:46003907:46003968:46005274:46005343 | 46003907:46003968 | ENSG00000213889.6 | ENST00000401705.1,ENST00000396737.2,ENST00000451287.2,ENST00000415077.1,ENST00000324688.4,ENST00000396735.2 |
exon_skip_308417 | 19 | 46003713:46003819:46003938:46003968:46005274:46005343 | 46003938:46003968 | ENSG00000213889.6 | ENST00000401593.1 |
exon_skip_308418 | 19 | 46003713:46003819:46003947:46003968:46005274:46005343 | 46003947:46003968 | ENSG00000213889.6 | ENST00000396736.2 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PPM1N |
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 |
ENST00000451287 | 46003713 | 46003819 | Frame-shift |
ENST00000451287 | 46003907 | 46003968 | 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 |
ENST00000451287 | 46003713 | 46003819 | Frame-shift |
ENST00000451287 | 46003907 | 46003968 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PPM1N |
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 |
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 PPM1N |
- 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-G3-A3CJ-01 | exon_skip_308399 exon_skip_308397 exon_skip_308402 | 46003207 | 46003324 | 46003249 | 46003249 | Frame_Shift_Del | G | - | p.G328fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_308399 exon_skip_308397 exon_skip_308402 | 46003212 | 46003324 | 46003249 | 46003249 | Frame_Shift_Del | G | - | p.G328fs |
CESC | TCGA-EA-A3Y4-01 | exon_skip_308411 exon_skip_308410 | 46003714 | 46003819 | 46003774 | 46003774 | Nonsense_Mutation | C | G | p.S373* |
GBM | TCGA-14-0786-01 | exon_skip_308399 exon_skip_308397 exon_skip_308402 | 46003207 | 46003324 | 46003206 | 46003206 | Splice_Site | G | C | p.G314_splice |
UCEC | TCGA-D1-A103-01 | exon_skip_308399 exon_skip_308397 exon_skip_308402 | 46003207 | 46003324 | 46003206 | 46003206 | Splice_Site | G | T | e2-1 |
- 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 |
MDAMB453_BREAST | 46003212 | 46003324 | 46003224 | 46003224 | Missense_Mutation | G | A | p.M319I |
MDAMB453_BREAST | 46003207 | 46003324 | 46003224 | 46003224 | Missense_Mutation | G | A | p.M319I |
JHOC5_OVARY | 46003212 | 46003324 | 46003252 | 46003252 | Missense_Mutation | G | T | p.A329S |
JHOC5_OVARY | 46003207 | 46003324 | 46003252 | 46003252 | Missense_Mutation | G | T | p.A329S |
NCIH2172_LUNG | 46003212 | 46003324 | 46003253 | 46003253 | Missense_Mutation | C | A | p.A329D |
NCIH2172_LUNG | 46003207 | 46003324 | 46003253 | 46003253 | Missense_Mutation | C | A | p.A329D |
SNU1040_LARGE_INTESTINE | 46003212 | 46003324 | 46003286 | 46003286 | Missense_Mutation | A | T | p.E340V |
SNU1040_LARGE_INTESTINE | 46003207 | 46003324 | 46003286 | 46003286 | Missense_Mutation | A | T | p.E340V |
SARC9371_BONE | 46003212 | 46003324 | 46003304 | 46003304 | Missense_Mutation | C | T | p.A346V |
SARC9371_BONE | 46003207 | 46003324 | 46003304 | 46003304 | Missense_Mutation | C | T | p.A346V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPM1N |
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 PPM1N |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PPM1N |
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RelatedDrugs for PPM1N |
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 PPM1N |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |