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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 RAB36 |
Gene summary |
| Gene information | Gene symbol | RAB36 | Gene ID | 9609 |
| Gene name | RAB36, member RAS oncogene family | |
| Synonyms | - | |
| Cytomap | 22q11.23 | |
| Type of gene | protein-coding | |
| Description | ras-related protein Rab-36small GTP-binding protein Rab36 | |
| Modification date | 20180526 | |
| UniProtAcc | O95755 | |
| Context | PubMed: RAB36 [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 RAB36 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 RAB36 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for RAB36 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_363642 | 22 | 23487552:23487738:23488791:23488872:23492249:23492300 | 23488791:23488872 | ENSG00000100228.8 | ENST00000341989.4 |
| exon_skip_363646 | 22 | 23488791:23488872:23492249:23492341:23494647:23494713 | 23492249:23492341 | ENSG00000100228.8 | ENST00000263116.2 |
| exon_skip_363647 | 22 | 23492299:23492341:23494647:23494713:23495219:23495321 | 23494647:23494713 | ENSG00000100228.8 | ENST00000420895.1,ENST00000263116.2 |
| exon_skip_363648 | 22 | 23492299:23492341:23495219:23495321:23498154:23498219 | 23495219:23495321 | ENSG00000100228.8 | ENST00000341989.4 |
| exon_skip_363649 | 22 | 23495219:23495321:23498154:23498219:23500178:23500230 | 23498154:23498219 | ENSG00000100228.8 | ENST00000341989.4,ENST00000263116.2 |
| exon_skip_363651 | 22 | 23501084:23501166:23501349:23501440:23503065:23503185 | 23501349:23501440 | ENSG00000100228.8 | ENST00000341989.4,ENST00000263116.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RAB36 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_363642 | 22 | 23487552:23487738:23488791:23488872:23492249:23492300 | 23488791:23488872 | ENSG00000100228.8 | ENST00000341989.4 |
| exon_skip_363646 | 22 | 23488791:23488872:23492249:23492341:23494647:23494713 | 23492249:23492341 | ENSG00000100228.8 | ENST00000263116.2 |
| exon_skip_363647 | 22 | 23492299:23492341:23494647:23494713:23495219:23495321 | 23494647:23494713 | ENSG00000100228.8 | ENST00000263116.2,ENST00000420895.1 |
| exon_skip_363648 | 22 | 23492299:23492341:23495219:23495321:23498154:23498219 | 23495219:23495321 | ENSG00000100228.8 | ENST00000341989.4 |
| exon_skip_363649 | 22 | 23495219:23495321:23498154:23498219:23500178:23500230 | 23498154:23498219 | ENSG00000100228.8 | ENST00000263116.2,ENST00000341989.4 |
| exon_skip_363651 | 22 | 23501084:23501166:23501349:23501440:23503065:23503185 | 23501349:23501440 | ENSG00000100228.8 | ENST00000263116.2,ENST00000341989.4 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for RAB36 |
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 |
| ENST00000263116 | 23492249 | 23492341 | Frame-shift |
| ENST00000263116 | 23498154 | 23498219 | Frame-shift |
| ENST00000263116 | 23501349 | 23501440 | Frame-shift |
| ENST00000263116 | 23494647 | 23494713 | 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 |
| ENST00000263116 | 23492249 | 23492341 | Frame-shift |
| ENST00000263116 | 23498154 | 23498219 | Frame-shift |
| ENST00000263116 | 23501349 | 23501440 | Frame-shift |
| ENST00000263116 | 23494647 | 23494713 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RAB36 |
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 |
| ENST00000263116 | 3845 | 333 | 23494647 | 23494713 | 400 | 465 | 120 | 141 |
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 |
| ENST00000263116 | 3845 | 333 | 23494647 | 23494713 | 400 | 465 | 120 | 141 |
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 |
| O95755 | 120 | 141 | 121 | 142 | Alternative sequence | ID=VSP_010143;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
| O95755 | 120 | 141 | 1 | 333 | Chain | ID=PRO_0000121248;Note=Ras-related protein Rab-36 |
| O95755 | 120 | 141 | 130 | 137 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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 |
| O95755 | 120 | 141 | 121 | 142 | Alternative sequence | ID=VSP_010143;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
| O95755 | 120 | 141 | 1 | 333 | Chain | ID=PRO_0000121248;Note=Ras-related protein Rab-36 |
| O95755 | 120 | 141 | 130 | 137 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for RAB36 |
- 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 |
| OV | TCGA-25-1313-01 | exon_skip_363646 | 23492250 | 23492341 | 23492252 | 23492252 | Nonsense_Mutation | G | A | p.W90* |
- 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 |
| 2313287_STOMACH | 23488792 | 23488872 | 23488810 | 23488810 | Missense_Mutation | T | C | p.S69P |
| OCIMY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23488792 | 23488872 | 23488813 | 23488813 | Missense_Mutation | T | C | p.S70P |
| HCC202_BREAST | 23488792 | 23488872 | 23488819 | 23488819 | Missense_Mutation | A | T | p.T72S |
| OE33_OESOPHAGUS | 23488792 | 23488872 | 23488828 | 23488828 | Missense_Mutation | G | C | p.G75R |
| MFE319_ENDOMETRIUM | 23488792 | 23488872 | 23488835 | 23488835 | Missense_Mutation | C | T | p.P77L |
| JHH7_LIVER | 23492250 | 23492341 | 23492324 | 23492324 | Missense_Mutation | G | T | p.R114S |
| ACN_AUTONOMIC_GANGLIA | 23494648 | 23494713 | 23494688 | 23494688 | Missense_Mutation | G | A | p.V134M |
| MDST8_LARGE_INTESTINE | 23495220 | 23495321 | 23495228 | 23495228 | Missense_Mutation | A | G | p.K145R |
| HEC251_ENDOMETRIUM | 23495220 | 23495321 | 23495284 | 23495284 | Missense_Mutation | C | T | p.R164C |
| TK10_KIDNEY | 23495220 | 23495321 | 23495290 | 23495290 | Missense_Mutation | G | A | p.E166K |
| MET2B | 23495220 | 23495321 | 23495305 | 23495305 | Missense_Mutation | C | T | p.P171S |
| CAL39_VULVA | 23498155 | 23498219 | 23498172 | 23498172 | Missense_Mutation | A | G | p.Q182R |
| CHSA0011_BONE | 23498155 | 23498219 | 23498174 | 23498174 | Missense_Mutation | G | C | p.E183Q |
| SNU81_LARGE_INTESTINE | 23498155 | 23498219 | 23498192 | 23498192 | Missense_Mutation | G | A | p.A189T |
| KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23501350 | 23501440 | 23501374 | 23501374 | Missense_Mutation | G | A | p.E251K |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23501350 | 23501440 | 23501406 | 23501406 | Missense_Mutation | G | A | p.M261I |
| SNU175_LARGE_INTESTINE | 23501350 | 23501440 | 23501413 | 23501413 | Missense_Mutation | G | A | p.E264K |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23501350 | 23501440 | 23501429 | 23501429 | Missense_Mutation | C | T | p.S269L |
| CAL29_URINARY_TRACT | 23492250 | 23492341 | 23492251 | 23492251 | Splice_Site | G | A | p.W90* |
| HEC1A_ENDOMETRIUM | 23498155 | 23498219 | 23498218 | 23498218 | Splice_Site | G | T | p.Q197H |
| LS411N_LARGE_INTESTINE | 23501350 | 23501440 | 23501351 | 23501351 | Splice_Site | C | T | p.S243L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAB36 |
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 RAB36 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAB36 |
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RelatedDrugs for RAB36 |
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 RAB36 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |