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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 RAB40C |
 Gene summary |
| Gene information | Gene symbol | RAB40C | Gene ID | 57799 |
| Gene name | RAB40C, member RAS oncogene family | |
| Synonyms | RARL|RASL8C | |
| Cytomap | 16p13.3 | |
| Type of gene | protein-coding | |
| Description | ras-related protein Rab-40CRAR (RAS like GTPASE) likeRAR likeRAS-like GTPaseRAS-like, family 8, member CSOCS box-containing protein RAR3rar-like proteinras-like protein family member 8C | |
| Modification date | 20180523 | |
| UniProtAcc | Q96S21 | |
| Context | PubMed: RAB40C [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 RAB40C 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 RAB40C |
| 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 RAB40C |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_131710 | 16 | 640331:640433:646316:646448:667207:667268 | 646316:646448 | ENSG00000197562.5 | ENST00000509637.2 |
| exon_skip_131723 | 16 | 667207:667268:668199:668260:675431:675509 | 668199:668260 | ENSG00000197562.5 | ENST00000535977.1,ENST00000538492.1,ENST00000566290.1,ENST00000569575.1,ENST00000563109.1,ENST00000248139.3,ENST00000539661.1,ENST00000568586.1,ENST00000509637.2 |
| exon_skip_131725 | 16 | 668199:668260:675036:675242:675431:675509 | 675036:675242 | ENSG00000197562.5 | ENST00000565511.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RAB40C |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_131708 | 16 | 639356:639547:640260:640433:667207:667268 | 640260:640433 | ENSG00000197562.5 | ENST00000535977.1 |
| exon_skip_131710 | 16 | 640331:640433:646316:646448:667207:667268 | 646316:646448 | ENSG00000197562.5 | ENST00000509637.2 |
| exon_skip_131723 | 16 | 667207:667268:668199:668260:675431:675509 | 668199:668260 | ENSG00000197562.5 | ENST00000569575.1,ENST00000535977.1,ENST00000566290.1,ENST00000539661.1,ENST00000568586.1,ENST00000538492.1,ENST00000248139.3,ENST00000509637.2,ENST00000563109.1 |
| exon_skip_131725 | 16 | 668199:668260:675036:675242:675431:675509 | 675036:675242 | ENSG00000197562.5 | ENST00000565511.1 |
| 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 RAB40C |
| 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 |
| ENST00000248139 | 668199 | 668260 | Frame-shift |
| ENST00000535977 | 668199 | 668260 | Frame-shift |
| ENST00000538492 | 668199 | 668260 | Frame-shift |
| ENST00000539661 | 668199 | 668260 | 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 |
| ENST00000535977 | 640260 | 640433 | 5CDS-5UTR |
| ENST00000248139 | 668199 | 668260 | Frame-shift |
| ENST00000535977 | 668199 | 668260 | Frame-shift |
| ENST00000538492 | 668199 | 668260 | Frame-shift |
| ENST00000539661 | 668199 | 668260 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RAB40C |
| 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 RAB40C |
| - 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 |
| - 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 |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 668200 | 668260 | 668244 | 668244 | Missense_Mutation | A | C | p.Y83S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAB40C |
| 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 |
| exon_skip_131725 | 16 | 668199:668260:675036:675242:675431:675509 | 675036:675242 | ENST00000565511.1 | KICH | rs3838962 | chr16:675087 | AC/A | 5.16e-05 |
| exon_skip_131725 | 16 | 668199:668260:675036:675242:675431:675509 | 675036:675242 | ENST00000565511.1 | KICH | rs2269556 | chr16:675215 | G/A | 5.16e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAB40C |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAB40C |
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RelatedDrugs for RAB40C |
| 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 RAB40C |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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