|
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | Open reading frame (ORF) annotation in the exon skipping event |
![]() | |
![]() | |
![]() | Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
![]() | Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
![]() | |
![]() |
Gene summary for RAB14 |
Gene summary |
| Gene information | Gene symbol | RAB14 | Gene ID | 51552 |
| Gene name | RAB14, member RAS oncogene family | |
| Synonyms | FBP|RAB-14 | |
| Cytomap | 9q33.2 | |
| Type of gene | protein-coding | |
| Description | ras-related protein Rab-14F protein-binding protein 1bA165P4.3 (member RAS oncogene family)small GTP binding protein RAB14 | |
| Modification date | 20180523 | |
| UniProtAcc | P61106 | |
| Context | PubMed: RAB14 [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 |
| RAB14 | GO:0032456 | endocytic recycling | 22595670 |
| RAB14 | GO:0032880 | regulation of protein localization | 22595670 |
Top |
Exon skipping events across known transcript of Ensembl for RAB14 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. |
![]() |
Top |
Gene isoform structures and expression levels for RAB14 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for RAB14 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_506644 | 9 | 123943776:123943851:123945207:123945238:123945588:123945676 | 123945207:123945238 | ENSG00000119396.6 | ENST00000373840.4,ENST00000451303.1 |
| exon_skip_506646 | 9 | 123945588:123945676:123949230:123949297:123952831:123953009 | 123949230:123949297 | ENSG00000119396.6 | ENST00000373840.4,ENST00000451303.1 |
| exon_skip_506648 | 9 | 123949230:123949297:123952831:123953009:123954448:123954502 | 123952831:123953009 | ENSG00000119396.6 | ENST00000373840.4,ENST00000451303.1 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for RAB14 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_506644 | 9 | 123943776:123943851:123945207:123945238:123945588:123945676 | 123945207:123945238 | ENSG00000119396.6 | ENST00000373840.4,ENST00000451303.1 |
| exon_skip_506646 | 9 | 123945588:123945676:123949230:123949297:123952831:123953009 | 123949230:123949297 | ENSG00000119396.6 | ENST00000373840.4,ENST00000451303.1 |
| exon_skip_506648 | 9 | 123949230:123949297:123952831:123953009:123954448:123954502 | 123952831:123953009 | ENSG00000119396.6 | ENST00000373840.4,ENST00000451303.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for RAB14 |
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 |
| ENST00000373840 | 123945207 | 123945238 | Frame-shift |
| ENST00000373840 | 123949230 | 123949297 | Frame-shift |
| ENST00000373840 | 123952831 | 123953009 | 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 |
| ENST00000373840 | 123945207 | 123945238 | Frame-shift |
| ENST00000373840 | 123949230 | 123949297 | Frame-shift |
| ENST00000373840 | 123952831 | 123953009 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for RAB14 |
Exon skipping at the protein sequence level and followed lost functional features.* Click on the image to enlarge it in a new window. |
![]() |
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 |
Top |
SNVs in the skipped exons for RAB14 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
| UCEC | TCGA-A5-A0GB-01 | exon_skip_506644 | 123945208 | 123945238 | 123945209 | 123945209 | Frame_Shift_Del | T | - | p.T157_splice |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_506648 | 123952832 | 123953009 | 123952920 | 123952920 | Frame_Shift_Del | C | - | p.D66fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_506648 | 123952832 | 123953009 | 123952938 | 123952938 | Frame_Shift_Del | T | - | p.I60fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_506648 | 123952832 | 123953009 | 123952938 | 123952938 | Frame_Shift_Del | T | - | p.I60fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_506648 | 123952832 | 123953009 | 123952938 | 123952938 | Frame_Shift_Del | T | - | p.I60fs |
| STAD | TCGA-BR-8361-01 | exon_skip_506648 | 123952832 | 123953009 | 123952938 | 123952938 | Frame_Shift_Del | T | - | p.I60fs |
- 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 |
| KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123949231 | 123949297 | 123949250 | 123949250 | Missense_Mutation | T | A | p.N111I |
| RL952_ENDOMETRIUM | 123949231 | 123949297 | 123949270 | 123949270 | Missense_Mutation | G | C | p.S104R |
| COV504_OVARY | 123952832 | 123953009 | 123952839 | 123952839 | Missense_Mutation | T | C | p.I93V |
| STS0421_SOFT_TISSUE | 123952832 | 123953009 | 123952848 | 123952848 | Missense_Mutation | C | T | p.V90I |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123952832 | 123953009 | 123952892 | 123952892 | Missense_Mutation | G | A | p.A75V |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123952832 | 123953009 | 123952901 | 123952901 | Missense_Mutation | C | T | p.R72Q |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAB14 |
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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAB14 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAB14 |
Top |
RelatedDrugs for RAB14 |
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 |
Top |
RelatedDiseases for RAB14 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |