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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 RAB23 |
 Gene summary |
| Gene information | Gene symbol | RAB23 | Gene ID | 51715 |
| Gene name | RAB23, member RAS oncogene family | |
| Synonyms | HSPC137 | |
| Cytomap | 6p12.1-p11.2 | |
| Type of gene | protein-coding | |
| Description | ras-related protein Rab-23RAB family small GTP binding protein RAB 23 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9ULC3 | |
| Context | PubMed: RAB23 [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 |
| RAB23 | GO:0046039 | GTP metabolic process | 22365972 |
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Exon skipping events across known transcript of Ensembl for RAB23 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 RAB23 |
| 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 RAB23 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_460383 | 6 | 57058639:57058732:57059567:57059650:57061247:57061368 | 57059567:57059650 | ENSG00000112210.7 | ENST00000468148.1,ENST00000317483.3 |
| exon_skip_460385 | 6 | 57061247:57061404:57072425:57072511:57075023:57075243 | 57072425:57072511 | ENSG00000112210.7 | ENST00000468148.1,ENST00000317483.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RAB23 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_460383 | 6 | 57058639:57058732:57059567:57059650:57061247:57061368 | 57059567:57059650 | ENSG00000112210.7 | ENST00000317483.3,ENST00000468148.1 |
| exon_skip_460385 | 6 | 57061247:57061404:57072425:57072511:57075023:57075243 | 57072425:57072511 | ENSG00000112210.7 | ENST00000317483.3,ENST00000468148.1 |
| 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 RAB23 |
| 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 |
| ENST00000317483 | 57059567 | 57059650 | Frame-shift |
| ENST00000468148 | 57059567 | 57059650 | Frame-shift |
| ENST00000317483 | 57072425 | 57072511 | Frame-shift |
| ENST00000468148 | 57072425 | 57072511 | 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 |
| ENST00000317483 | 57059567 | 57059650 | Frame-shift |
| ENST00000468148 | 57059567 | 57059650 | Frame-shift |
| ENST00000317483 | 57072425 | 57072511 | Frame-shift |
| ENST00000468148 | 57072425 | 57072511 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RAB23 |
| 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 RAB23 |
| - 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 |
| READ | TCGA-F5-6814-01 | exon_skip_460385 | 57072426 | 57072511 | 57072429 | 57072429 | Nonsense_Mutation | G | A | p.R80X |
| - 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 |
| CW2_LARGE_INTESTINE | 57072426 | 57072511 | 57072470 | 57072470 | Missense_Mutation | G | A | p.A66V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAB23 |
| 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 RAB23 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAB23 |
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RelatedDrugs for RAB23 |
| 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 RAB23 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RAB23 | C1275078 | Acrocephalopolysyndactyly type 2 | 2 | CTD_human;ORPHANET;UNIPROT |
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