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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 RAB8A |
 Gene summary |
| Gene information | Gene symbol | RAB8A | Gene ID | 4218 |
| Gene name | RAB8A, member RAS oncogene family | |
| Synonyms | MEL|RAB8 | |
| Cytomap | 19p13.11 | |
| Type of gene | protein-coding | |
| Description | ras-related protein Rab-8Amel transforming oncogene (RAB8 homolog)mel transforming oncogene (derived from cell line NK14)mel transforming oncogene (derived from cell line NK14)- RAB8 homologoncogene c-melras-associated protein RAB8 | |
| Modification date | 20180523 | |
| UniProtAcc | P61006 | |
| Context | PubMed: RAB8A [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 |
| RAB8A | GO:0006904 | vesicle docking involved in exocytosis | 17574030 |
| RAB8A | GO:0048210 | Golgi vesicle fusion to target membrane | 17574030 |
| RAB8A | GO:0060271 | cilium assembly | 17574030 |
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Exon skipping events across known transcript of Ensembl for RAB8A 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 RAB8A |
| 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 RAB8A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_303162 | 19 | 16222724:16222835:16229035:16229096:16232559:16232620 | 16229035:16229096 | ENSG00000167461.7 | ENST00000590899.1,ENST00000586682.1,ENST00000589697.1,ENST00000587156.1 |
| exon_skip_303163 | 19 | 16229035:16229096:16232559:16232620:16236279:16236357 | 16232559:16232620 | ENSG00000167461.7 | ENST00000300935.3,ENST00000586682.1,ENST00000589697.1,ENST00000587156.1 |
| exon_skip_303164 | 19 | 16236279:16236357:16238246:16238336:16238835:16238901 | 16238246:16238336 | ENSG00000167461.7 | ENST00000300935.3,ENST00000586682.1 |
| exon_skip_303165 | 19 | 16238835:16238901:16240363:16240414:16243021:16243129 | 16240363:16240414 | ENSG00000167461.7 | ENST00000300935.3,ENST00000592971.1 |
| exon_skip_303167 | 19 | 16238835:16238901:16240383:16240414:16243021:16243129 | 16240383:16240414 | ENSG00000167461.7 | ENST00000586682.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RAB8A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_303162 | 19 | 16222724:16222835:16229035:16229096:16232559:16232620 | 16229035:16229096 | ENSG00000167461.7 | ENST00000590899.1,ENST00000587156.1,ENST00000586682.1,ENST00000589697.1 |
| exon_skip_303163 | 19 | 16229035:16229096:16232559:16232620:16236279:16236357 | 16232559:16232620 | ENSG00000167461.7 | ENST00000300935.3,ENST00000587156.1,ENST00000586682.1,ENST00000589697.1 |
| exon_skip_303164 | 19 | 16236279:16236357:16238246:16238336:16238835:16238901 | 16238246:16238336 | ENSG00000167461.7 | ENST00000300935.3,ENST00000586682.1 |
| exon_skip_303165 | 19 | 16238835:16238901:16240363:16240414:16243021:16243129 | 16240363:16240414 | ENSG00000167461.7 | ENST00000300935.3,ENST00000592971.1 |
| exon_skip_303167 | 19 | 16238835:16238901:16240383:16240414:16243021:16243129 | 16240383:16240414 | ENSG00000167461.7 | ENST00000586682.1 |
| 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 RAB8A |
| 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 |
| ENST00000300935 | 16232559 | 16232620 | Frame-shift |
| ENST00000300935 | 16238246 | 16238336 | In-frame |
| ENST00000300935 | 16240363 | 16240414 | In-frame |
| 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 |
| ENST00000300935 | 16232559 | 16232620 | Frame-shift |
| ENST00000300935 | 16238246 | 16238336 | In-frame |
| ENST00000300935 | 16240363 | 16240414 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RAB8A |
| 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 |
| ENST00000300935 | 2844 | 207 | 16238246 | 16238336 | 598 | 687 | 108 | 138 |
| ENST00000300935 | 2844 | 207 | 16240363 | 16240414 | 754 | 804 | 160 | 177 |
| 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 |
| ENST00000300935 | 2844 | 207 | 16238246 | 16238336 | 598 | 687 | 108 | 138 |
| ENST00000300935 | 2844 | 207 | 16240363 | 16240414 | 754 | 804 | 160 | 177 |
| 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 |
| P61006 | 108 | 138 | 115 | 121 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LHW |
| P61006 | 108 | 138 | 1 | 204 | Chain | ID=PRO_0000121130;Note=Ras-related protein Rab-8A |
| P61006 | 108 | 138 | 99 | 109 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LHW |
| P61006 | 108 | 138 | 126 | 128 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LHW |
| P61006 | 108 | 138 | 133 | 142 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LHW |
| P61006 | 108 | 138 | 121 | 124 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:5SZI,ECO:0000269|PubMed:27552051;Dbxref=PMID:27552051 |
| P61006 | 108 | 138 | 122 | 124 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LHX |
| P61006 | 160 | 177 | 161 | 205 | Alternative sequence | ID=VSP_056399;Note=In isoform 2. AFFTLARDIKAKMDKKLEGNSPQGSNQGVKITPDQQKRSSFFRCV->RYQSKNGQKIGRQQPPGEQPGSQNHTGPAEEEQLFPMCSSVRNTA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P61006 | 160 | 177 | 1 | 204 | Chain | ID=PRO_0000121130;Note=Ras-related protein Rab-8A |
| P61006 | 160 | 177 | 158 | 174 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LHW |
| P61006 | 160 | 177 | 177 | 183 | Sequence conflict | Note=LEGNSPQ->WKATAP;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P61006 | 108 | 138 | 115 | 121 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LHW |
| P61006 | 108 | 138 | 1 | 204 | Chain | ID=PRO_0000121130;Note=Ras-related protein Rab-8A |
| P61006 | 108 | 138 | 99 | 109 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LHW |
| P61006 | 108 | 138 | 126 | 128 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LHW |
| P61006 | 108 | 138 | 133 | 142 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LHW |
| P61006 | 108 | 138 | 121 | 124 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:5SZI,ECO:0000269|PubMed:27552051;Dbxref=PMID:27552051 |
| P61006 | 108 | 138 | 122 | 124 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LHX |
| P61006 | 160 | 177 | 161 | 205 | Alternative sequence | ID=VSP_056399;Note=In isoform 2. AFFTLARDIKAKMDKKLEGNSPQGSNQGVKITPDQQKRSSFFRCV->RYQSKNGQKIGRQQPPGEQPGSQNHTGPAEEEQLFPMCSSVRNTA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P61006 | 160 | 177 | 1 | 204 | Chain | ID=PRO_0000121130;Note=Ras-related protein Rab-8A |
| P61006 | 160 | 177 | 158 | 174 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LHW |
| P61006 | 160 | 177 | 177 | 183 | Sequence conflict | Note=LEGNSPQ->WKATAP;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for RAB8A |
| - 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 |
| KIRC | TCGA-BP-4782-01 | exon_skip_303162 | 16229036 | 16229096 | 16229096 | 16229096 | Frame_Shift_Del | G | - | p.W62fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_303163 | 16232560 | 16232620 | 16232605 | 16232605 | Nonsense_Mutation | C | A | p.Y77* |
| PAAD | TCGA-IB-7651-01 | exon_skip_303163 | 16232560 | 16232620 | 16232605 | 16232605 | Nonsense_Mutation | C | A | p.Y77X |
| - 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 |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16238247 | 16238336 | 16238250 | 16238250 | Missense_Mutation | G | A | p.A110T |
| KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16238247 | 16238336 | 16238306 | 16238306 | Missense_Mutation | G | C | p.K128N |
| NCIH510_LUNG | 16229036 | 16229096 | 16229096 | 16229096 | Splice_Site | G | T | p.W62L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAB8A |
| 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 RAB8A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAB8A |
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RelatedDrugs for RAB8A |
| 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 RAB8A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RAB8A | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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