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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 RGP1 |
 Gene summary |
| Gene information | Gene symbol | RGP1 | Gene ID | 9827 |
| Gene name | RGP1 homolog, RAB6A GEF complex partner 1 | |
| Synonyms | KIAA0258 | |
| Cytomap | 9p13.3 | |
| Type of gene | protein-coding | |
| Description | RAB6A-GEF complex partner protein 2RGP1 retrograde golgi transport homologretrograde Golgi transport protein RGP1 homolog | |
| Modification date | 20180523 | |
| UniProtAcc | Q92546 | |
| Context | PubMed: RGP1 [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 |
| RGP1 | GO:0043547 | positive regulation of GTPase activity | 23091056 |
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Exon skipping events across known transcript of Ensembl for RGP1 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 RGP1 |
| 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 RGP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495733 | 9 | 35749368:35749405:35749733:35749868:35750239:35750376 | 35749733:35749868 | ENSG00000107185.8 | ENST00000378078.4,ENST00000496906.1,ENST00000456972.2 |
| exon_skip_495737 | 9 | 35749733:35749868:35750239:35750376:35750654:35750738 | 35750239:35750376 | ENSG00000107185.8 | ENST00000378078.4,ENST00000496906.1,ENST00000456972.2 |
| exon_skip_495739 | 9 | 35750654:35750738:35750836:35750986:35751262:35751334 | 35750836:35750986 | ENSG00000107185.8 | ENST00000378078.4,ENST00000456972.2 |
| exon_skip_495743 | 9 | 35751623:35751751:35751952:35752142:35752647:35752799 | 35751952:35752142 | ENSG00000107185.8 | ENST00000378078.4,ENST00000496906.1,ENST00000456972.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RGP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495733 | 9 | 35749368:35749405:35749733:35749868:35750239:35750376 | 35749733:35749868 | ENSG00000107185.8 | ENST00000456972.2,ENST00000378078.4,ENST00000496906.1 |
| exon_skip_495737 | 9 | 35749733:35749868:35750239:35750376:35750654:35750738 | 35750239:35750376 | ENSG00000107185.8 | ENST00000456972.2,ENST00000378078.4,ENST00000496906.1 |
| exon_skip_495739 | 9 | 35750654:35750738:35750836:35750986:35751262:35751334 | 35750836:35750986 | ENSG00000107185.8 | ENST00000456972.2,ENST00000378078.4 |
| exon_skip_495743 | 9 | 35751623:35751751:35751952:35752142:35752647:35752799 | 35751952:35752142 | ENSG00000107185.8 | ENST00000456972.2,ENST00000378078.4,ENST00000496906.1 |
| 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 RGP1 |
| 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 |
| ENST00000378078 | 35749733 | 35749868 | 5CDS-5UTR |
| ENST00000378078 | 35750239 | 35750376 | Frame-shift |
| ENST00000378078 | 35751952 | 35752142 | Frame-shift |
| ENST00000378078 | 35750836 | 35750986 | 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 |
| ENST00000378078 | 35749733 | 35749868 | 5CDS-5UTR |
| ENST00000378078 | 35750239 | 35750376 | Frame-shift |
| ENST00000378078 | 35751952 | 35752142 | Frame-shift |
| ENST00000378078 | 35750836 | 35750986 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RGP1 |
| 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 |
| ENST00000378078 | 7035 | 391 | 35750836 | 35750986 | 479 | 628 | 112 | 162 |
| 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 |
| ENST00000378078 | 7035 | 391 | 35750836 | 35750986 | 479 | 628 | 112 | 162 |
| 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 |
| Q92546 | 112 | 162 | 1 | 391 | Chain | ID=PRO_0000050741;Note=RAB6A-GEF complex partner protein 2 |
| 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 |
| Q92546 | 112 | 162 | 1 | 391 | Chain | ID=PRO_0000050741;Note=RAB6A-GEF complex partner protein 2 |
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SNVs in the skipped exons for RGP1 |
| - 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 |
| COAD | TCGA-G4-6628-01 | exon_skip_495733 | 35749734 | 35749868 | 35749781 | 35749781 | Frame_Shift_Del | G | - | p.R10fs |
| THCA | TCGA-DJ-A3V0-01 | exon_skip_495743 | 35751953 | 35752142 | 35752094 | 35752103 | Frame_Shift_Del | TCCCTCCCAA | - | p.SLPI302fs |
| KIRC | TCGA-A3-3365-01 | exon_skip_495739 | 35750837 | 35750986 | 35750946 | 35750947 | Frame_Shift_Ins | - | A | p.F150fs |
| - 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RGP1 |
| 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 RGP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RGP1 |
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RelatedDrugs for RGP1 |
| 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 RGP1 |
| 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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