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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 PPP1R18 |
 Gene summary |
| Gene information | Gene symbol | PPP1R18 | Gene ID | 170954 |
| Gene name | protein phosphatase 1 regulatory subunit 18 | |
| Synonyms | HKMT1098|KIAA1949 | |
| Cytomap | 6p21.33 | |
| Type of gene | protein-coding | |
| Description | phostensinprotein phosphatase 1 F-actin cytoskeleton targeting subunit | |
| Modification date | 20180519 | |
| UniProtAcc | Q6NYC8 | |
| Context | PubMed: PPP1R18 [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 PPP1R18 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 PPP1R18 |
| 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 PPP1R18 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_457088 | 6 | 30644165:30645065:30646955:30647166:30652184:30652321 | 30646955:30647166 | ENSG00000146112.7 | ENST00000399199.3,ENST00000488324.1,ENST00000274853.3 |
| exon_skip_457092 | 6 | 30646959:30647166:30652184:30652321:30654890:30654935 | 30652184:30652321 | ENSG00000146112.7 | ENST00000488324.1 |
| exon_skip_457095 | 6 | 30646959:30647166:30652184:30653823:30654890:30654935 | 30652184:30653823 | ENSG00000146112.7 | ENST00000399199.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PPP1R18 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_457088 | 6 | 30644165:30645065:30646955:30647166:30652184:30652321 | 30646955:30647166 | ENSG00000146112.7 | ENST00000488324.1,ENST00000399199.3,ENST00000274853.3 |
| exon_skip_457092 | 6 | 30646959:30647166:30652184:30652321:30654890:30654935 | 30652184:30652321 | ENSG00000146112.7 | ENST00000488324.1 |
| exon_skip_457095 | 6 | 30646959:30647166:30652184:30653823:30654890:30654935 | 30652184:30653823 | ENSG00000146112.7 | ENST00000399199.3 |
| 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 PPP1R18 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for PPP1R18 |
| 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 PPP1R18 |
| - 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 |
| HNSC | TCGA-QK-A6VB-01 | exon_skip_457095 | 30652185 | 30653823 | 30652622 | 30652623 | Frame_Shift_Del | CT | - | p.RA391fs |
| ESCA | TCGA-Z6-A8JE-01 | exon_skip_457095 | 30652185 | 30653823 | 30652643 | 30652643 | Frame_Shift_Del | C | - | p.A385fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_457095 | 30652185 | 30653823 | 30653117 | 30653117 | Frame_Shift_Del | C | - | p.E227fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_457095 | 30652185 | 30653823 | 30653337 | 30653337 | Frame_Shift_Del | C | - | p.R153fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_457095 | 30652185 | 30653823 | 30653394 | 30653394 | Frame_Shift_Del | G | - | p.P134fs |
| BLCA | TCGA-E7-A6ME-01 | exon_skip_457095 | 30652185 | 30653823 | 30653405 | 30653405 | Frame_Shift_Del | C | - | p.D131fs |
| COAD | TCGA-AZ-6599-01 | exon_skip_457088 | 30646956 | 30647166 | 30646989 | 30646989 | Nonsense_Mutation | G | A | p.Q597X |
| TGCT | TCGA-XY-A8S2-01 | exon_skip_457092 | 30652185 | 30652321 | 30652190 | 30652190 | Nonsense_Mutation | T | A | p.K536* |
| TGCT | TCGA-XY-A8S2-01 | exon_skip_457095 | 30652185 | 30653823 | 30652190 | 30652190 | Nonsense_Mutation | T | A | p.K536* |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_457095 | 30652185 | 30653823 | 30652838 | 30652838 | Nonsense_Mutation | C | A | p.E320* |
| LUSC | TCGA-43-5668-01 | exon_skip_457095 | 30652185 | 30653823 | 30653372 | 30653372 | Nonsense_Mutation | C | A | p.E142* |
| HNSC | TCGA-T3-A92N-01 | exon_skip_457095 | 30652185 | 30653823 | 30653531 | 30653531 | Nonsense_Mutation | G | A | p.R89* |
| - 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 |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30652185 | 30652321 | 30652246 | 30652246 | Frame_Shift_Del | C | - | p.G517fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30652185 | 30653823 | 30652246 | 30652246 | Frame_Shift_Del | C | - | p.G517fs |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30652185 | 30653823 | 30652400 | 30652400 | Frame_Shift_Del | G | - | p.R467fs |
| GP2D_LARGE_INTESTINE | 30652185 | 30653823 | 30652589 | 30652589 | Frame_Shift_Del | G | - | p.L403fs |
| GP5D_LARGE_INTESTINE | 30652185 | 30653823 | 30652589 | 30652589 | Frame_Shift_Del | G | - | p.L403fs |
| NCIH1963_LUNG | 30652185 | 30653823 | 30652451 | 30652452 | Frame_Shift_Ins | - | GAGG | p.M449fs |
| NB14_AUTONOMIC_GANGLIA | 30652185 | 30653823 | 30653486 | 30653488 | In_Frame_Del | GTT | - | p.Q103del |
| OVK18_OVARY | 30652185 | 30653823 | 30653485 | 30653486 | In_Frame_Ins | - | GTT | p.103_104insQ |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30646956 | 30647166 | 30646959 | 30646959 | Missense_Mutation | C | T | p.V607M |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30646956 | 30647166 | 30646973 | 30646973 | Missense_Mutation | G | A | p.T602I |
| SNU81_LARGE_INTESTINE | 30646956 | 30647166 | 30647049 | 30647049 | Missense_Mutation | C | T | p.A577T |
| LS411N_LARGE_INTESTINE | 30646956 | 30647166 | 30647115 | 30647115 | Missense_Mutation | A | G | p.S555P |
| OVISE_OVARY | 30646956 | 30647166 | 30647117 | 30647117 | Missense_Mutation | G | A | p.P554L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 30652185 | 30652321 | 30652216 | 30652216 | Missense_Mutation | G | A | p.A527V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 30652185 | 30653823 | 30652216 | 30652216 | Missense_Mutation | G | A | p.A527V |
| PACADD137_PANCREAS | 30652185 | 30652321 | 30652268 | 30652268 | Missense_Mutation | C | T | p.E510K |
| PACADD137_PANCREAS | 30652185 | 30653823 | 30652268 | 30652268 | Missense_Mutation | C | T | p.E510K |
| HCT116_LARGE_INTESTINE | 30652185 | 30652321 | 30652300 | 30652300 | Missense_Mutation | G | A | p.P499L |
| HCT116_LARGE_INTESTINE | 30652185 | 30653823 | 30652300 | 30652300 | Missense_Mutation | G | A | p.P499L |
| 22RV1_PROSTATE | 30652185 | 30653823 | 30652399 | 30652399 | Missense_Mutation | C | T | p.R466H |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30652185 | 30653823 | 30652558 | 30652558 | Missense_Mutation | A | G | p.L413P |
| YD38_UPPER_AERODIGESTIVE_TRACT | 30652185 | 30653823 | 30652699 | 30652699 | Missense_Mutation | A | C | p.L366R |
| NCIH226_LUNG | 30652185 | 30653823 | 30652706 | 30652706 | Missense_Mutation | T | C | p.K364E |
| SNUC5_LARGE_INTESTINE | 30652185 | 30653823 | 30652963 | 30652963 | Missense_Mutation | C | T | p.R278K |
| JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30652185 | 30653823 | 30653014 | 30653014 | Missense_Mutation | C | A | p.W261L |
| SKGT2_STOMACH | 30652185 | 30653823 | 30653080 | 30653080 | Missense_Mutation | T | C | p.H239R |
| HDQP1_BREAST | 30652185 | 30653823 | 30653131 | 30653131 | Missense_Mutation | C | G | p.R222T |
| SW403_LARGE_INTESTINE | 30652185 | 30653823 | 30653136 | 30653136 | Missense_Mutation | T | A | p.E220D |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30652185 | 30653823 | 30653219 | 30653219 | Missense_Mutation | T | C | p.R193G |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30652185 | 30653823 | 30653323 | 30653323 | Missense_Mutation | C | T | p.G158E |
| KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30652185 | 30653823 | 30653323 | 30653323 | Missense_Mutation | C | T | p.G158E |
| BT483_BREAST | 30652185 | 30653823 | 30653347 | 30653347 | Missense_Mutation | C | G | p.R150T |
| HEC108_ENDOMETRIUM | 30652185 | 30653823 | 30653503 | 30653503 | Missense_Mutation | T | C | p.Q98R |
| HEC108_ENDOMETRIUM | 30652185 | 30653823 | 30653507 | 30653507 | Missense_Mutation | G | C | p.Q97E |
| NCIH1650_LUNG | 30652185 | 30653823 | 30653507 | 30653507 | Missense_Mutation | G | C | p.Q97E |
| CAL51_BREAST | 30652185 | 30653823 | 30653629 | 30653629 | Missense_Mutation | C | T | p.G56E |
| HCC1359_LUNG | 30652185 | 30653823 | 30653651 | 30653651 | Missense_Mutation | C | A | p.A49S |
| SNUC2A_LARGE_INTESTINE | 30652185 | 30653823 | 30653701 | 30653701 | Missense_Mutation | C | T | p.R32H |
| SNUC2B_LARGE_INTESTINE | 30652185 | 30653823 | 30653701 | 30653701 | Missense_Mutation | C | T | p.R32H |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30652185 | 30653823 | 30653762 | 30653762 | Missense_Mutation | G | C | p.L12V |
| CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30652185 | 30653823 | 30652978 | 30652978 | Nonsense_Mutation | G | T | p.S273* |
| SQ1_LUNG | 30652185 | 30653823 | 30653033 | 30653033 | Nonsense_Mutation | G | A | p.Q255* |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30652185 | 30653823 | 30653221 | 30653221 | Nonsense_Mutation | C | T | p.W192* |
| SNGM_ENDOMETRIUM | 30652185 | 30653823 | 30653675 | 30653675 | Nonsense_Mutation | G | A | p.R41* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPP1R18 |
| 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 PPP1R18 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PPP1R18 |
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RelatedDrugs for PPP1R18 |
| 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 PPP1R18 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PPP1R18 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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