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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 RNF138 |
Gene summary |
| Gene information | Gene symbol | RNF138 | Gene ID | 51444 |
| Gene name | ring finger protein 138 | |
| Synonyms | HSD-4|NARF|STRIN|hNARF | |
| Cytomap | 18q12.1 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase RNF138NLK-associated RING finger proteinNemo-like kinase-associated RING finger proteinRING-type E3 ubiquitin transferase RNF138nemo-like kinase associated ring finger proteinring finger protein 138, E3 ubiquitin protein l | |
| Modification date | 20180522 | |
| UniProtAcc | Q8WVD3 | |
| Context | PubMed: RNF138 [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 RNF138 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 RNF138 |
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 RNF138 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_296241 | 18 | 29672664:29672849:29691716:29691882:29693707:29693757 | 29691716:29691882 | ENSG00000134758.9 | ENST00000583733.1,ENST00000261593.3,ENST00000578107.1,ENST00000580499.1 |
| exon_skip_296245 | 18 | 29672664:29672849:29703480:29703537:29704696:29704732 | 29703480:29703537 | ENSG00000134758.9 | ENST00000257190.5 |
| exon_skip_296253 | 18 | 29693707:29693823:29703480:29703537:29704696:29704732 | 29703480:29703537 | ENSG00000134758.9 | ENST00000261593.3 |
| exon_skip_296255 | 18 | 29703487:29703537:29704696:29704808:29706655:29706763 | 29704696:29704808 | ENSG00000134758.9 | ENST00000257190.5,ENST00000261593.3 |
| exon_skip_296258 | 18 | 29704696:29704808:29706655:29706763:29709081:29709265 | 29706655:29706763 | ENSG00000134758.9 | ENST00000257190.5,ENST00000261593.3 |
| exon_skip_296259 | 18 | 29704696:29704808:29706689:29706763:29709081:29709265 | 29706689:29706763 | ENSG00000134758.9 | ENST00000577999.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RNF138 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_296241 | 18 | 29672664:29672849:29691716:29691882:29693707:29693757 | 29691716:29691882 | ENSG00000134758.9 | ENST00000261593.3,ENST00000578107.1,ENST00000583733.1,ENST00000580499.1 |
| exon_skip_296245 | 18 | 29672664:29672849:29703480:29703537:29704696:29704732 | 29703480:29703537 | ENSG00000134758.9 | ENST00000257190.5 |
| exon_skip_296253 | 18 | 29693707:29693823:29703480:29703537:29704696:29704732 | 29703480:29703537 | ENSG00000134758.9 | ENST00000261593.3 |
| exon_skip_296255 | 18 | 29703487:29703537:29704696:29704808:29706655:29706763 | 29704696:29704808 | ENSG00000134758.9 | ENST00000261593.3,ENST00000257190.5 |
| exon_skip_296258 | 18 | 29704696:29704808:29706655:29706763:29709081:29709265 | 29706655:29706763 | ENSG00000134758.9 | ENST00000261593.3,ENST00000257190.5 |
| exon_skip_296259 | 18 | 29704696:29704808:29706689:29706763:29709081:29709265 | 29706689:29706763 | ENSG00000134758.9 | ENST00000577999.1 |
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 RNF138 |
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 |
| ENST00000261593 | 29691716 | 29691882 | Frame-shift |
| ENST00000261593 | 29704696 | 29704808 | Frame-shift |
| ENST00000261593 | 29703480 | 29703537 | In-frame |
| ENST00000261593 | 29706655 | 29706763 | 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 |
| ENST00000261593 | 29691716 | 29691882 | Frame-shift |
| ENST00000261593 | 29704696 | 29704808 | Frame-shift |
| ENST00000261593 | 29703480 | 29703537 | In-frame |
| ENST00000261593 | 29706655 | 29706763 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RNF138 |
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 |
| ENST00000261593 | 3587 | 245 | 29703480 | 29703537 | 851 | 907 | 131 | 149 |
| ENST00000261593 | 3587 | 245 | 29706655 | 29706763 | 1020 | 1127 | 187 | 223 |
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 |
| ENST00000261593 | 3587 | 245 | 29703480 | 29703537 | 851 | 907 | 131 | 149 |
| ENST00000261593 | 3587 | 245 | 29706655 | 29706763 | 1020 | 1127 | 187 | 223 |
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 |
| Q8WVD3 | 131 | 149 | 38 | 131 | Alternative sequence | ID=VSP_021732;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8WVD3 | 131 | 149 | 2 | 245 | Chain | ID=PRO_0000261607;Note=E3 ubiquitin-protein ligase RNF138 |
| Q8WVD3 | 131 | 149 | 142 | 142 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8WVD3 | 187 | 223 | 2 | 245 | Chain | ID=PRO_0000261607;Note=E3 ubiquitin-protein ligase RNF138 |
| Q8WVD3 | 187 | 223 | 215 | 215 | Sequence conflict | Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8WVD3 | 187 | 223 | 187 | 215 | Zinc finger | Note=C2H2-type 2;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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 |
| Q8WVD3 | 131 | 149 | 38 | 131 | Alternative sequence | ID=VSP_021732;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8WVD3 | 131 | 149 | 2 | 245 | Chain | ID=PRO_0000261607;Note=E3 ubiquitin-protein ligase RNF138 |
| Q8WVD3 | 131 | 149 | 142 | 142 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8WVD3 | 187 | 223 | 2 | 245 | Chain | ID=PRO_0000261607;Note=E3 ubiquitin-protein ligase RNF138 |
| Q8WVD3 | 187 | 223 | 215 | 215 | Sequence conflict | Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8WVD3 | 187 | 223 | 187 | 215 | Zinc finger | Note=C2H2-type 2;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for RNF138 |
- 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_296241 | 29691717 | 29691882 | 29691783 | 29691783 | Frame_Shift_Del | A | - | p.G59fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_296259 exon_skip_296258 | 29706656 | 29706763 | 29706684 | 29706684 | Frame_Shift_Del | G | - | p.W197fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_296259 exon_skip_296258 | 29706656 | 29706763 | 29706727 | 29706727 | Frame_Shift_Del | A | - | p.L211fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_296259 exon_skip_296258 | 29706690 | 29706763 | 29706727 | 29706727 | Frame_Shift_Del | A | - | p.L211fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_296259 exon_skip_296258 | 29706656 | 29706763 | 29706743 | 29706743 | Frame_Shift_Del | T | - | p.F217fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_296259 exon_skip_296258 | 29706690 | 29706763 | 29706743 | 29706743 | Frame_Shift_Del | T | - | p.F217fs |
| BLCA | TCGA-GD-A76B-01 | exon_skip_296255 | 29704697 | 29704808 | 29704794 | 29704794 | Nonsense_Mutation | C | T | p.Q183* |
- 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 |
| CW2_LARGE_INTESTINE | 29691717 | 29691882 | 29691725 | 29691726 | Frame_Shift_Ins | - | A | p.RK40fs |
| HCT15_LARGE_INTESTINE | 29691717 | 29691882 | 29691757 | 29691757 | Missense_Mutation | G | A | p.G51R |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29691717 | 29691882 | 29691757 | 29691757 | Missense_Mutation | G | A | p.G51R |
| SNU81_LARGE_INTESTINE | 29691717 | 29691882 | 29691851 | 29691851 | Missense_Mutation | T | G | p.F82C |
| HCC2450_LUNG | 29691717 | 29691882 | 29691854 | 29691854 | Missense_Mutation | C | G | p.S83C |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 29691717 | 29691882 | 29691874 | 29691874 | Missense_Mutation | G | T | p.A90S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 29691717 | 29691882 | 29691880 | 29691880 | Missense_Mutation | C | A | p.Q92K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RNF138 |
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 RNF138 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RNF138 |
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RelatedDrugs for RNF138 |
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 RNF138 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |