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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 RAB18 |
 Gene summary |
| Gene information | Gene symbol | RAB18 | Gene ID | 22931 |
| Gene name | RAB18, member RAS oncogene family | |
| Synonyms | RAB18LI1|WARBM3 | |
| Cytomap | 10p12.1 | |
| Type of gene | protein-coding | |
| Description | ras-related protein Rab-18RAB18 small GTPase | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NP72 | |
| Context | PubMed: RAB18 [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 RAB18 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 RAB18 |
| 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 RAB18 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_40256 | 10 | 27793322:27793366:27798803:27798859:27815756:27815818 | 27798803:27798859 | ENSG00000099246.12 | ENST00000535776.1,ENST00000465772.1 |
| exon_skip_40258 | 10 | 27798803:27798859:27815756:27815818:27821435:27821508 | 27815756:27815818 | ENSG00000099246.12 | ENST00000465772.1,ENST00000356940.6 |
| exon_skip_40262 | 10 | 27815756:27815818:27820457:27820544:27821435:27821508 | 27820457:27820544 | ENSG00000099246.12 | ENST00000423465.1 |
| exon_skip_40263 | 10 | 27822664:27822782:27822856:27822923:27826804:27826895 | 27822856:27822923 | ENSG00000099246.12 | ENST00000423465.1,ENST00000375802.3,ENST00000356940.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RAB18 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_40256 | 10 | 27793322:27793366:27798803:27798859:27815756:27815818 | 27798803:27798859 | ENSG00000099246.12 | ENST00000535776.1,ENST00000465772.1 |
| exon_skip_40258 | 10 | 27798803:27798859:27815756:27815818:27821435:27821508 | 27815756:27815818 | ENSG00000099246.12 | ENST00000356940.6,ENST00000465772.1 |
| exon_skip_40262 | 10 | 27815756:27815818:27820457:27820544:27821435:27821508 | 27820457:27820544 | ENSG00000099246.12 | ENST00000423465.1 |
| exon_skip_40263 | 10 | 27822664:27822782:27822856:27822923:27826804:27826895 | 27822856:27822923 | ENSG00000099246.12 | ENST00000356940.6,ENST00000375802.3,ENST00000423465.1 |
| 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 RAB18 |
| 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 |
| ENST00000356940 | 27815756 | 27815818 | Frame-shift |
| ENST00000356940 | 27822856 | 27822923 | 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 |
| ENST00000356940 | 27815756 | 27815818 | Frame-shift |
| ENST00000356940 | 27822856 | 27822923 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RAB18 |
| 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 RAB18 |
| - 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 |
| BRCA | TCGA-E9-A247-01 | exon_skip_40256 | 27798804 | 27798859 | 27798830 | 27798830 | Nonsense_Mutation | C | G | p.Y115* |
| UCEC | TCGA-AP-A056-01 | exon_skip_40263 | 27822857 | 27822923 | 27822881 | 27822881 | Nonsense_Mutation | G | T | p.E135* |
| - 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 |
| NCIH250_LUNG | 27822857 | 27822923 | 27822885 | 27822885 | Missense_Mutation | G | T | p.G136V |
| SW900_LUNG | 27822857 | 27822923 | 27822912 | 27822912 | Missense_Mutation | T | C | p.M145T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAB18 |
| 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 RAB18 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAB18 |
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RelatedDrugs for RAB18 |
| 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 RAB18 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RAB18 | C3280203 | WARBURG MICRO SYNDROME 3 | 1 | UNIPROT |
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