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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 RABL3 |
 Gene summary |
| Gene information | Gene symbol | RABL3 | Gene ID | 285282 |
| Gene name | RAB, member of RAS oncogene family like 3 | |
| Synonyms | - | |
| Cytomap | 3q13.33 | |
| Type of gene | protein-coding | |
| Description | rab-like protein 3 | |
| Modification date | 20180523 | |
| UniProtAcc | Q5HYI8 | |
| Context | PubMed: RABL3 [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 |
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Exon skipping events across known transcript of Ensembl for RABL3 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 RABL3 |
| 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 RABL3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_386909 | 3 | 120408561:120408735:120409295:120409334:120412999:120413071 | 120409295:120409334 | ENSG00000144840.4 | ENST00000273375.3,ENST00000491398.1,ENST00000473654.1,ENST00000485161.1,ENST00000465022.1,ENST00000481015.1 |
| exon_skip_386910 | 3 | 120408561:120408735:120409295:120409334:120417269:120417367 | 120409295:120409334 | ENSG00000144840.4 | ENST00000483733.1 |
| exon_skip_386913 | 3 | 120409295:120409334:120412999:120413071:120417269:120417367 | 120412999:120413071 | ENSG00000144840.4 | ENST00000273375.3,ENST00000491398.1,ENST00000473654.1,ENST00000485161.1 |
| exon_skip_386914 | 3 | 120409295:120409334:120412999:120413071:120424846:120424961 | 120412999:120413071 | ENSG00000144840.4 | ENST00000465022.1,ENST00000481015.1 |
| exon_skip_386918 | 3 | 120409295:120409334:120417269:120417420:120424846:120424961 | 120417269:120417420 | ENSG00000144840.4 | ENST00000483733.1 |
| exon_skip_386919 | 3 | 120413016:120413071:120417269:120417367:120424846:120424961 | 120417269:120417367 | ENSG00000144840.4 | ENST00000473654.1 |
| exon_skip_386920 | 3 | 120413016:120413071:120417269:120417420:120424846:120424961 | 120417269:120417420 | ENSG00000144840.4 | ENST00000273375.3,ENST00000491398.1,ENST00000485161.1,ENST00000468192.1 |
| exon_skip_386921 | 3 | 120424846:120424961:120428626:120428756:120449542:120449634 | 120428626:120428756 | ENSG00000144840.4 | ENST00000273375.3,ENST00000491398.1,ENST00000473654.1,ENST00000465022.1,ENST00000483733.1 |
| exon_skip_386922 | 3 | 120449542:120449634:120457373:120457514:120461308:120461352 | 120457373:120457514 | ENSG00000144840.4 | ENST00000491398.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RABL3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_386909 | 3 | 120408561:120408735:120409295:120409334:120412999:120413071 | 120409295:120409334 | ENSG00000144840.4 | ENST00000273375.3,ENST00000473654.1,ENST00000485161.1,ENST00000481015.1,ENST00000465022.1,ENST00000491398.1 |
| exon_skip_386910 | 3 | 120408561:120408735:120409295:120409334:120417269:120417367 | 120409295:120409334 | ENSG00000144840.4 | ENST00000483733.1 |
| exon_skip_386913 | 3 | 120409295:120409334:120412999:120413071:120417269:120417367 | 120412999:120413071 | ENSG00000144840.4 | ENST00000273375.3,ENST00000473654.1,ENST00000485161.1,ENST00000491398.1 |
| exon_skip_386914 | 3 | 120409295:120409334:120412999:120413071:120424846:120424961 | 120412999:120413071 | ENSG00000144840.4 | ENST00000481015.1,ENST00000465022.1 |
| exon_skip_386918 | 3 | 120409295:120409334:120417269:120417420:120424846:120424961 | 120417269:120417420 | ENSG00000144840.4 | ENST00000483733.1 |
| exon_skip_386919 | 3 | 120413016:120413071:120417269:120417367:120424846:120424961 | 120417269:120417367 | ENSG00000144840.4 | ENST00000473654.1 |
| exon_skip_386920 | 3 | 120413016:120413071:120417269:120417420:120424846:120424961 | 120417269:120417420 | ENSG00000144840.4 | ENST00000273375.3,ENST00000485161.1,ENST00000491398.1,ENST00000468192.1 |
| exon_skip_386922 | 3 | 120449542:120449634:120457373:120457514:120461308:120461352 | 120457373:120457514 | ENSG00000144840.4 | ENST00000491398.1 |
| 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 RABL3 |
| 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 |
| ENST00000273375 | 120417269 | 120417420 | Frame-shift |
| ENST00000273375 | 120428626 | 120428756 | Frame-shift |
| ENST00000273375 | 120409295 | 120409334 | In-frame |
| ENST00000273375 | 120412999 | 120413071 | 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 |
| ENST00000273375 | 120417269 | 120417420 | Frame-shift |
| ENST00000273375 | 120409295 | 120409334 | In-frame |
| ENST00000273375 | 120412999 | 120413071 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RABL3 |
| 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 |
| ENST00000273375 | 3900 | 236 | 120412999 | 120413071 | 565 | 636 | 178 | 202 |
| ENST00000273375 | 3900 | 236 | 120409295 | 120409334 | 637 | 675 | 202 | 215 |
| 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 |
| ENST00000273375 | 3900 | 236 | 120412999 | 120413071 | 565 | 636 | 178 | 202 |
| ENST00000273375 | 3900 | 236 | 120409295 | 120409334 | 637 | 675 | 202 | 215 |
| 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 |
| Q5HYI8 | 178 | 202 | 1 | 236 | Chain | ID=PRO_0000312166;Note=Rab-like protein 3 |
| Q5HYI8 | 178 | 202 | 1 | 236 | Region | Note=Small GTPase-like |
| Q5HYI8 | 202 | 215 | 1 | 236 | Chain | ID=PRO_0000312166;Note=Rab-like protein 3 |
| Q5HYI8 | 202 | 215 | 1 | 236 | Region | Note=Small GTPase-like |
| 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 |
| Q5HYI8 | 178 | 202 | 1 | 236 | Chain | ID=PRO_0000312166;Note=Rab-like protein 3 |
| Q5HYI8 | 178 | 202 | 1 | 236 | Region | Note=Small GTPase-like |
| Q5HYI8 | 202 | 215 | 1 | 236 | Chain | ID=PRO_0000312166;Note=Rab-like protein 3 |
| Q5HYI8 | 202 | 215 | 1 | 236 | Region | Note=Small GTPase-like |
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SNVs in the skipped exons for RABL3 |
| - 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. |
RABL3_LUSC_exon_skip_386919_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 |
| LUSC | TCGA-37-5819-01 | exon_skip_386919 | 120417270 | 120417367 | 120417269 | 120417269 | Splice_Site | C | A | p.L178_splice |
| LUSC | TCGA-37-5819-01 | exon_skip_386920 exon_skip_386918 | 120417270 | 120417420 | 120417269 | 120417269 | Splice_Site | C | A | p.L178_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-37-5819-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_386918 | |
| Skipped exon start: 120417270 | |
| Skipped exon end: 120417420 | |
| Mutation start: 120417269 | |
| Mutation end: 120417269 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.L178_splice | |
| Sample: TCGA-37-5819-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_386919 | |
| Skipped exon start: 120417270 | |
| Skipped exon end: 120417367 | |
| Mutation start: 120417269 | |
| Mutation end: 120417269 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.L178_splice | |
exon_skip_115357_LUSC_TCGA-37-5819-01.png | |
exon_skip_386918_LUSC_TCGA-37-5819-01.png | |
exon_skip_386919_LUSC_TCGA-37-5819-01.png | |
exon_skip_386920_LUSC_TCGA-37-5819-01.png | |
exon_skip_449061_LUSC_TCGA-37-5819-01.png | |
 | Sample: TCGA-37-5819-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_386918 | |
| Skipped exon start: 120417270 | |
| Skipped exon end: 120417420 | |
| Mutation start: 120417269 | |
| Mutation end: 120417269 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.L178_splice | |
| Sample: TCGA-37-5819-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_386919 | |
| Skipped exon start: 120417270 | |
| Skipped exon end: 120417367 | |
| Mutation start: 120417269 | |
| Mutation end: 120417269 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.L178_splice | |
| exon_skip_115357_LUSC_TCGA-37-5819-01.png | |
| exon_skip_386918_LUSC_TCGA-37-5819-01.png | |
| exon_skip_386919_LUSC_TCGA-37-5819-01.png | |
| exon_skip_386920_LUSC_TCGA-37-5819-01.png | |
| exon_skip_449061_LUSC_TCGA-37-5819-01.png | |
 | Sample: TCGA-37-5819-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_386918 | |
| Skipped exon start: 120417270 | |
| Skipped exon end: 120417420 | |
| Mutation start: 120417269 | |
| Mutation end: 120417269 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.L178_splice | |
| Sample: TCGA-37-5819-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_386919 | |
| Skipped exon start: 120417270 | |
| Skipped exon end: 120417367 | |
| Mutation start: 120417269 | |
| Mutation end: 120417269 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.L178_splice | |
| exon_skip_115357_LUSC_TCGA-37-5819-01.png | |
| exon_skip_386918_LUSC_TCGA-37-5819-01.png | |
| exon_skip_386919_LUSC_TCGA-37-5819-01.png | |
| exon_skip_386920_LUSC_TCGA-37-5819-01.png | |
| exon_skip_449061_LUSC_TCGA-37-5819-01.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 |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120417270 | 120417420 | 120417316 | 120417316 | Missense_Mutation | C | G | p.R163T |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 120417270 | 120417367 | 120417316 | 120417316 | Missense_Mutation | C | G | p.R163T |
| PECAPJ49_UPPER_AERODIGESTIVE_TRACT | 120428627 | 120428756 | 120428746 | 120428746 | Missense_Mutation | T | C | p.Y50C |
| LS180_LARGE_INTESTINE | 120428627 | 120428756 | 120428693 | 120428693 | Nonsense_Mutation | C | A | p.G68* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RABL3 |
| 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 RABL3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RABL3 |
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RelatedDrugs for RABL3 |
| 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 RABL3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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