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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 RAB6A |
 Gene summary |
| Gene information | Gene symbol | RAB6A | Gene ID | 5870 |
| Gene name | RAB6A, member RAS oncogene family | |
| Synonyms | RAB6 | |
| Cytomap | 11q13.4 | |
| Type of gene | protein-coding | |
| Description | ras-related protein Rab-6ARAB6, member RAS oncogene familyRab GTPase | |
| Modification date | 20180523 | |
| UniProtAcc | P20340 | |
| Context | PubMed: RAB6A [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 |
| RAB6A | GO:0018125 | peptidyl-cysteine methylation | 11121396 |
| RAB6A | GO:0034067 | protein localization to Golgi apparatus | 12447383|18243103 |
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Exon skipping events across known transcript of Ensembl for RAB6A 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 RAB6A |
| 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 RAB6A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_75496 | 11 | 73388988:73389007:73390698:73390765:73418464:73418558 | 73390698:73390765 | ENSG00000175582.15 | ENST00000336083.3,ENST00000310653.6,ENST00000536566.1,ENST00000541973.1 |
| exon_skip_75500 | 11 | 73390730:73390765:73418464:73418558:73427295:73427407 | 73418464:73418558 | ENSG00000175582.15 | ENST00000336083.3,ENST00000537446.1,ENST00000310653.6,ENST00000536566.1,ENST00000541973.1 |
| exon_skip_75506 | 11 | 73390730:73390765:73431890:73431944:73441809:73441868 | 73431890:73431944 | ENSG00000175582.15 | ENST00000541588.1 |
| exon_skip_75514 | 11 | 73418464:73418558:73427295:73427407:73431890:73431944 | 73427295:73427407 | ENSG00000175582.15 | ENST00000537446.1,ENST00000545625.1 |
| exon_skip_75520 | 11 | 73427295:73427407:73429657:73429763:73431890:73431944 | 73429657:73429763 | ENSG00000175582.15 | ENST00000336083.3,ENST00000400470.2 |
| exon_skip_75522 | 11 | 73427295:73427407:73429829:73429935:73431890:73431944 | 73429829:73429935 | ENSG00000175582.15 | ENST00000310653.6,ENST00000536566.1,ENST00000541973.1 |
| exon_skip_75525 | 11 | 73431890:73431944:73441809:73441868:73471610:73471655 | 73441809:73441868 | ENSG00000175582.15 | ENST00000336083.3,ENST00000537446.1,ENST00000545625.1,ENST00000400470.2,ENST00000541588.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RAB6A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_75496 | 11 | 73388988:73389007:73390698:73390765:73418464:73418558 | 73390698:73390765 | ENSG00000175582.15 | ENST00000310653.6,ENST00000336083.3,ENST00000541973.1,ENST00000536566.1 |
| exon_skip_75500 | 11 | 73390730:73390765:73418464:73418558:73427295:73427407 | 73418464:73418558 | ENSG00000175582.15 | ENST00000310653.6,ENST00000336083.3,ENST00000541973.1,ENST00000536566.1,ENST00000537446.1 |
| exon_skip_75506 | 11 | 73390730:73390765:73431890:73431944:73441809:73441868 | 73431890:73431944 | ENSG00000175582.15 | ENST00000541588.1 |
| exon_skip_75514 | 11 | 73418464:73418558:73427295:73427407:73431890:73431944 | 73427295:73427407 | ENSG00000175582.15 | ENST00000545625.1,ENST00000537446.1 |
| exon_skip_75520 | 11 | 73427295:73427407:73429657:73429763:73431890:73431944 | 73429657:73429763 | ENSG00000175582.15 | ENST00000336083.3,ENST00000400470.2 |
| exon_skip_75522 | 11 | 73427295:73427407:73429829:73429935:73431890:73431944 | 73429829:73429935 | ENSG00000175582.15 | ENST00000310653.6,ENST00000541973.1,ENST00000536566.1 |
| exon_skip_75525 | 11 | 73431890:73431944:73441809:73441868:73471610:73471655 | 73441809:73441868 | ENSG00000175582.15 | ENST00000336083.3,ENST00000541588.1,ENST00000545625.1,ENST00000537446.1,ENST00000400470.2 |
| 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 RAB6A |
| 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 |
| ENST00000336083 | 73390698 | 73390765 | Frame-shift |
| ENST00000336083 | 73418464 | 73418558 | Frame-shift |
| ENST00000336083 | 73429657 | 73429763 | Frame-shift |
| ENST00000336083 | 73441809 | 73441868 | 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 |
| ENST00000336083 | 73390698 | 73390765 | Frame-shift |
| ENST00000336083 | 73418464 | 73418558 | Frame-shift |
| ENST00000336083 | 73429657 | 73429763 | Frame-shift |
| ENST00000336083 | 73441809 | 73441868 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RAB6A |
| 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 RAB6A |
| - 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. |
RAB6A_BRCA_exon_skip_75520_psi_boxplot.png |
RAB6A_CESC_exon_skip_75522_psi_boxplot.png |
| - 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 |
| KIRP | TCGA-BQ-5878-01 | exon_skip_75500 | 73418465 | 73418558 | 73418504 | 73418504 | Frame_Shift_Del | A | - | p.F152fs |
| KIRP | TCGA-BQ-5878-01 | exon_skip_75500 | 73418465 | 73418558 | 73418504 | 73418504 | Frame_Shift_Del | A | - | p.I153fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_75506 | 73431891 | 73431944 | 73431914 | 73431914 | Frame_Shift_Del | T | - | p.T54fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_75506 | 73431891 | 73431944 | 73431914 | 73431914 | Frame_Shift_Del | T | - | p.T54fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_75525 | 73441810 | 73441868 | 73441825 | 73441825 | Frame_Shift_Del | A | - | p.F38fs |
| BRCA | TCGA-E2-A1B5-01 | exon_skip_75520 | 73429658 | 73429763 | 73429669 | 73429670 | Frame_Shift_Ins | - | A | p.Y93fs |
| CESC | TCGA-C5-A1BJ-01 | exon_skip_75522 | 73429830 | 73429935 | 73429893 | 73429894 | Frame_Shift_Ins | - | C | p.*76fs |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_75496 | 73390699 | 73390765 | 73390759 | 73390759 | Nonsense_Mutation | G | A | p.R168* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-C5-A1BJ-01 |
| Cancer type: CESC | |
| ESID: exon_skip_75522 | |
| Skipped exon start: 73429830 | |
| Skipped exon end: 73429935 | |
| Mutation start: 73429893 | |
| Mutation end: 73429894 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: C | |
| AAchange: p.*76fs | |
exon_skip_75522_CESC_TCGA-C5-A1BJ-01.png | |
 | Sample: TCGA-E2-A1B5-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_75520 | |
| Skipped exon start: 73429658 | |
| Skipped exon end: 73429763 | |
| Mutation start: 73429669 | |
| Mutation end: 73429670 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.Y93fs | |
exon_skip_75520_BRCA_TCGA-E2-A1B5-01.png | |
| - 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 |
| CORL23_LUNG | 73390699 | 73390765 | 73390708 | 73390708 | Missense_Mutation | T | C | p.R185G |
| AGS_STOMACH | 73427296 | 73427407 | 73427350 | 73427350 | Missense_Mutation | C | T | p.G116E |
| SNUC5_LARGE_INTESTINE | 73427296 | 73427407 | 73427398 | 73427398 | Missense_Mutation | G | A | p.S100L |
| SNU81_LARGE_INTESTINE | 73431891 | 73431944 | 73431906 | 73431906 | Nonsense_Mutation | G | T | p.Y56* |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 73390699 | 73390765 | 73390700 | 73390700 | Splice_Site | A | G | p.D187D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAB6A |
| 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 RAB6A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAB6A |
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RelatedDrugs for RAB6A |
| 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 RAB6A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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