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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 RAB27A |
 Gene summary |
| Gene information | Gene symbol | RAB27A | Gene ID | 5873 |
| Gene name | RAB27A, member RAS oncogene family | |
| Synonyms | GS2|HsT18676|RAB27|RAM | |
| Cytomap | 15q21.3 | |
| Type of gene | protein-coding | |
| Description | ras-related protein Rab-27AGTP-binding protein Rammutant Ras-related protein Rab-27Arab-27 | |
| Modification date | 20180527 | |
| UniProtAcc | P51159 | |
| Context | PubMed: RAB27A [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 |
| RAB27A | GO:0006887 | exocytosis | 18812475 |
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Exon skipping events across known transcript of Ensembl for RAB27A 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 RAB27A |
| 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 RAB27A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_127301 | 15 | 55497813:55497903:55516086:55516210:55520806:55520910 | 55516086:55516210 | ENSG00000069974.11 | ENST00000569493.1,ENST00000396307.2,ENST00000564609.1,ENST00000566877.1,ENST00000336787.1 |
| exon_skip_127306 | 15 | 55520863:55520910:55522598:55522684:55526979:55527154 | 55522598:55522684 | ENSG00000069974.11 | ENST00000569493.1,ENST00000563262.1,ENST00000396307.2,ENST00000564609.1,ENST00000565972.1,ENST00000566877.1,ENST00000567380.1,ENST00000336787.1 |
| exon_skip_127308 | 15 | 55522622:55522684:55526979:55527154:55562362:55562454 | 55526979:55527154 | ENSG00000069974.11 | ENST00000569493.1,ENST00000567380.1,ENST00000336787.1 |
| exon_skip_127314 | 15 | 55527038:55527154:55529513:55529640:55530600:55530689 | 55529513:55529640 | ENSG00000069974.11 | ENST00000565972.1 |
| exon_skip_127317 | 15 | 55527038:55527154:55530600:55530689:55562362:55562454 | 55530600:55530689 | ENSG00000069974.11 | ENST00000564609.1 |
| exon_skip_127320 | 15 | 55527038:55527154:55552118:55552221:55562362:55562454 | 55552118:55552221 | ENSG00000069974.11 | ENST00000568803.1 |
| exon_skip_127323 | 15 | 55527038:55527154:55562362:55562482:55581913:55581989 | 55562362:55562482 | ENSG00000069974.11 | ENST00000336787.1 |
| exon_skip_127339 | 15 | 55530600:55530689:55562362:55562482:55581913:55581989 | 55562362:55562482 | ENSG00000069974.11 | ENST00000567639.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RAB27A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_127301 | 15 | 55497813:55497903:55516086:55516210:55520806:55520910 | 55516086:55516210 | ENSG00000069974.11 | ENST00000396307.2,ENST00000336787.1,ENST00000564609.1,ENST00000569493.1,ENST00000566877.1 |
| exon_skip_127306 | 15 | 55520863:55520910:55522598:55522684:55526979:55527154 | 55522598:55522684 | ENSG00000069974.11 | ENST00000396307.2,ENST00000336787.1,ENST00000564609.1,ENST00000569493.1,ENST00000566877.1,ENST00000567380.1,ENST00000565972.1,ENST00000563262.1 |
| exon_skip_127308 | 15 | 55522622:55522684:55526979:55527154:55562362:55562454 | 55526979:55527154 | ENSG00000069974.11 | ENST00000336787.1,ENST00000569493.1,ENST00000567380.1 |
| exon_skip_127314 | 15 | 55527038:55527154:55529513:55529640:55530600:55530689 | 55529513:55529640 | ENSG00000069974.11 | ENST00000565972.1 |
| exon_skip_127317 | 15 | 55527038:55527154:55530600:55530689:55562362:55562454 | 55530600:55530689 | ENSG00000069974.11 | ENST00000564609.1 |
| exon_skip_127319 | 15 | 55526979:55527154:55530600:55530689:55606236:55606358 | 55530600:55530689 | ENSG00000069974.11 | ENST00000563262.1 |
| exon_skip_127320 | 15 | 55527038:55527154:55552118:55552221:55562362:55562454 | 55552118:55552221 | ENSG00000069974.11 | ENST00000568803.1 |
| exon_skip_127323 | 15 | 55527038:55527154:55562362:55562482:55581913:55581989 | 55562362:55562482 | ENSG00000069974.11 | ENST00000336787.1 |
| exon_skip_127339 | 15 | 55530600:55530689:55562362:55562482:55581913:55581989 | 55562362:55562482 | ENSG00000069974.11 | ENST00000567639.1 |
| 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 RAB27A |
| 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 |
| ENST00000336787 | 55526979 | 55527154 | 3UTR-3CDS |
| ENST00000569493 | 55526979 | 55527154 | 3UTR-3CDS |
| ENST00000564609 | 55530600 | 55530689 | 3UTR-3UTR |
| ENST00000336787 | 55562362 | 55562482 | 3UTR-3UTR |
| ENST00000336787 | 55516086 | 55516210 | Frame-shift |
| ENST00000396307 | 55516086 | 55516210 | Frame-shift |
| ENST00000564609 | 55516086 | 55516210 | Frame-shift |
| ENST00000569493 | 55516086 | 55516210 | Frame-shift |
| ENST00000336787 | 55522598 | 55522684 | Frame-shift |
| ENST00000396307 | 55522598 | 55522684 | Frame-shift |
| ENST00000564609 | 55522598 | 55522684 | Frame-shift |
| ENST00000569493 | 55522598 | 55522684 | 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 |
| ENST00000336787 | 55526979 | 55527154 | 3UTR-3CDS |
| ENST00000569493 | 55526979 | 55527154 | 3UTR-3CDS |
| ENST00000564609 | 55530600 | 55530689 | 3UTR-3UTR |
| ENST00000336787 | 55562362 | 55562482 | 3UTR-3UTR |
| ENST00000336787 | 55516086 | 55516210 | Frame-shift |
| ENST00000396307 | 55516086 | 55516210 | Frame-shift |
| ENST00000564609 | 55516086 | 55516210 | Frame-shift |
| ENST00000569493 | 55516086 | 55516210 | Frame-shift |
| ENST00000336787 | 55522598 | 55522684 | Frame-shift |
| ENST00000396307 | 55522598 | 55522684 | Frame-shift |
| ENST00000564609 | 55522598 | 55522684 | Frame-shift |
| ENST00000569493 | 55522598 | 55522684 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RAB27A |
| 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 RAB27A |
| - 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 |
| - 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 |
| NCIBL128_MATCHED_NORMAL_TISSUE | 55522599 | 55522684 | 55522663 | 55522663 | Frame_Shift_Del | C | - | p.D59fs |
| SNUC2B_LARGE_INTESTINE | 55526980 | 55527154 | 55526985 | 55526985 | Frame_Shift_Del | T | - | p.R50fs |
| SKPNDW_BONE | 55526980 | 55527154 | 55526984 | 55526985 | Frame_Shift_Ins | - | T | p.R50fs |
| TTC709_SOFT_TISSUE | 55526980 | 55527154 | 55526984 | 55526985 | Frame_Shift_Ins | - | T | p.R50fs |
| RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55516087 | 55516210 | 55516105 | 55516105 | Missense_Mutation | G | C | p.A150G |
| SUPT11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55522599 | 55522684 | 55522665 | 55522665 | Missense_Mutation | G | A | p.P58L |
| KYM1_SOFT_TISSUE | 55526980 | 55527154 | 55527065 | 55527065 | Missense_Mutation | G | T | p.T23N |
| NCIH1341_LUNG | 55526980 | 55527154 | 55527077 | 55527077 | Missense_Mutation | C | T | p.G19D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAB27A |
| 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 RAB27A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAB27A |
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RelatedDrugs for RAB27A |
| 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 RAB27A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RAB27A | C1868679 | GRISCELLI SYNDROME, TYPE 2 | 1 | CTD_human;ORPHANET;UNIPROT |
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