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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 RANBP3L |
 Gene summary |
| Gene information | Gene symbol | RANBP3L | Gene ID | 202151 |
| Gene name | RAN binding protein 3 like | |
| Synonyms | - | |
| Cytomap | 5p13.2 | |
| Type of gene | protein-coding | |
| Description | ran-binding protein 3-like | |
| Modification date | 20180523 | |
| UniProtAcc | Q86VV4 | |
| Context | PubMed: RANBP3L [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 RANBP3L 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 RANBP3L |
| 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 RANBP3L |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_441542 | 5 | 36251414:36251601:36253748:36253891:36255571:36255692 | 36253748:36253891 | ENSG00000164188.4 | ENST00000502994.1,ENST00000296604.3 |
| exon_skip_441548 | 5 | 36253748:36253891:36255571:36255692:36257042:36257173 | 36255571:36255692 | ENSG00000164188.4 | ENST00000502994.1,ENST00000296604.3 |
| exon_skip_441551 | 5 | 36255571:36255692:36257042:36257173:36257555:36257658 | 36257042:36257173 | ENSG00000164188.4 | ENST00000502994.1,ENST00000296604.3 |
| exon_skip_441553 | 5 | 36260881:36260966:36262040:36262144:36265060:36265200 | 36262040:36262144 | ENSG00000164188.4 | ENST00000502994.1,ENST00000296604.3,ENST00000515759.1 |
| exon_skip_441554 | 5 | 36265060:36265200:36265550:36265622:36269491:36269509 | 36265550:36265622 | ENSG00000164188.4 | ENST00000296604.3,ENST00000515759.1 |
| exon_skip_441555 | 5 | 36265564:36265622:36268294:36268369:36269491:36269509 | 36268294:36268369 | ENSG00000164188.4 | ENST00000502994.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RANBP3L |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_441542 | 5 | 36251414:36251601:36253748:36253891:36255571:36255692 | 36253748:36253891 | ENSG00000164188.4 | ENST00000296604.3,ENST00000502994.1 |
| exon_skip_441548 | 5 | 36253748:36253891:36255571:36255692:36257042:36257173 | 36255571:36255692 | ENSG00000164188.4 | ENST00000296604.3,ENST00000502994.1 |
| exon_skip_441551 | 5 | 36255571:36255692:36257042:36257173:36257555:36257658 | 36257042:36257173 | ENSG00000164188.4 | ENST00000296604.3,ENST00000502994.1 |
| exon_skip_441553 | 5 | 36260881:36260966:36262040:36262144:36265060:36265200 | 36262040:36262144 | ENSG00000164188.4 | ENST00000296604.3,ENST00000502994.1,ENST00000515759.1 |
| exon_skip_441554 | 5 | 36265060:36265200:36265550:36265622:36269491:36269509 | 36265550:36265622 | ENSG00000164188.4 | ENST00000296604.3,ENST00000515759.1 |
| exon_skip_441555 | 5 | 36265564:36265622:36268294:36268369:36269491:36269509 | 36268294:36268369 | ENSG00000164188.4 | ENST00000502994.1 |
| 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 RANBP3L |
| 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 |
| ENST00000296604 | 36253748 | 36253891 | Frame-shift |
| ENST00000296604 | 36255571 | 36255692 | Frame-shift |
| ENST00000296604 | 36257042 | 36257173 | Frame-shift |
| ENST00000296604 | 36262040 | 36262144 | Frame-shift |
| ENST00000296604 | 36265550 | 36265622 | 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 |
| ENST00000296604 | 36253748 | 36253891 | Frame-shift |
| ENST00000296604 | 36255571 | 36255692 | Frame-shift |
| ENST00000296604 | 36257042 | 36257173 | Frame-shift |
| ENST00000296604 | 36262040 | 36262144 | Frame-shift |
| ENST00000296604 | 36265550 | 36265622 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RANBP3L |
| 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 |
| ENST00000296604 | 3121 | 465 | 36265550 | 36265622 | 755 | 826 | 89 | 113 |
| 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 |
| ENST00000296604 | 3121 | 465 | 36265550 | 36265622 | 755 | 826 | 89 | 113 |
| 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 |
| Q86VV4 | 89 | 113 | 89 | 89 | Alternative sequence | ID=VSP_044463;Note=In isoform 3. G->GVSTLSQKQMRCSSVTNLPTFPHSGP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q86VV4 | 89 | 113 | 1 | 465 | Chain | ID=PRO_0000312749;Note=Ran-binding protein 3-like |
| Q86VV4 | 89 | 113 | 111 | 111 | Natural variant | ID=VAR_037558;Note=A->D;Dbxref=dbSNP:rs35433829 |
| 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 |
| Q86VV4 | 89 | 113 | 89 | 89 | Alternative sequence | ID=VSP_044463;Note=In isoform 3. G->GVSTLSQKQMRCSSVTNLPTFPHSGP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q86VV4 | 89 | 113 | 1 | 465 | Chain | ID=PRO_0000312749;Note=Ran-binding protein 3-like |
| Q86VV4 | 89 | 113 | 111 | 111 | Natural variant | ID=VAR_037558;Note=A->D;Dbxref=dbSNP:rs35433829 |
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SNVs in the skipped exons for RANBP3L |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_441542 | 36253749 | 36253891 | 36253807 | 36253807 | Frame_Shift_Del | T | - | p.N370fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_441551 | 36257043 | 36257173 | 36257069 | 36257069 | Frame_Shift_Del | C | - | p.E294fs |
| LUAD | TCGA-49-4514-01 | exon_skip_441551 | 36257043 | 36257173 | 36257147 | 36257147 | Frame_Shift_Del | G | - | p.L267fs |
| MESO | TCGA-MQ-A4LP-01 | exon_skip_441555 | 36268295 | 36268369 | 36268346 | 36268346 | Frame_Shift_Del | T | - | p.M98fs |
| ESCA | TCGA-LN-A8I1-01 | exon_skip_441542 | 36253749 | 36253891 | 36253802 | 36253802 | Nonsense_Mutation | G | A | p.R372* |
| ESCA | TCGA-LN-A8I1-01 | exon_skip_441542 | 36253749 | 36253891 | 36253802 | 36253802 | Nonsense_Mutation | G | A | p.R397X |
| LUAD | TCGA-MP-A4TI-01 | exon_skip_441542 | 36253749 | 36253891 | 36253826 | 36253826 | Nonsense_Mutation | G | A | p.Q364* |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_441548 | 36255572 | 36255692 | 36255644 | 36255644 | Nonsense_Mutation | C | A | p.E318* |
| BRCA | TCGA-AN-A0FL-01 | exon_skip_441553 | 36262041 | 36262144 | 36262047 | 36262047 | Nonsense_Mutation | G | C | p.S193* |
| ESCA | TCGA-R6-A6DN-01 | exon_skip_441553 | 36262041 | 36262144 | 36262047 | 36262047 | Nonsense_Mutation | G | T | p.S218X |
| BLCA | TCGA-FD-A3SO-01 | exon_skip_441554 | 36265551 | 36265622 | 36265595 | 36265595 | Nonsense_Mutation | G | C | p.S99* |
| HNSC | TCGA-CV-7095-01 | exon_skip_441554 | 36265551 | 36265622 | 36265595 | 36265595 | Nonsense_Mutation | G | C | p.S99* |
| KIRC | TCGA-BP-4964-01 | exon_skip_441551 | 36257043 | 36257173 | 36257042 | 36257042 | Splice_Site | C | T | . |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_441551 | 36257043 | 36257173 | 36257174 | 36257174 | Splice_Site | C | T | . |
| - 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 |
| ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 36257043 | 36257173 | 36257087 | 36257087 | Frame_Shift_Del | T | - | p.I287fs |
| SNU398_LIVER | 36262041 | 36262144 | 36262058 | 36262058 | Frame_Shift_Del | T | - | p.L189fs |
| HEC108_ENDOMETRIUM | 36253749 | 36253891 | 36253801 | 36253801 | Missense_Mutation | C | T | p.R372Q |
| SNU1040_LARGE_INTESTINE | 36253749 | 36253891 | 36253885 | 36253885 | Missense_Mutation | C | T | p.R344H |
| EFO27_OVARY | 36255572 | 36255692 | 36255610 | 36255610 | Missense_Mutation | G | A | p.T329I |
| BE2M17_AUTONOMIC_GANGLIA | 36255572 | 36255692 | 36255628 | 36255628 | Missense_Mutation | G | A | p.T323M |
| NCIH1793_LUNG | 36257043 | 36257173 | 36257056 | 36257056 | Missense_Mutation | T | C | p.H297R |
| HEC251_ENDOMETRIUM | 36257043 | 36257173 | 36257107 | 36257107 | Missense_Mutation | C | T | p.R280Q |
| SNU324_PANCREAS | 36257043 | 36257173 | 36257113 | 36257113 | Missense_Mutation | G | T | p.P278Q |
| HEC151_ENDOMETRIUM | 36257043 | 36257173 | 36257159 | 36257159 | Missense_Mutation | T | C | p.K263E |
| SKOV3_OVARY | 36262041 | 36262144 | 36262065 | 36262065 | Missense_Mutation | T | C | p.D187G |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 36265551 | 36265622 | 36265577 | 36265577 | Missense_Mutation | C | T | p.S105N |
| SISO_CERVIX | 36257043 | 36257173 | 36257108 | 36257108 | Nonsense_Mutation | G | A | p.R280* |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 36262041 | 36262144 | 36262144 | 36262144 | Splice_Site | T | A | p.I161F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RANBP3L |
| 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 RANBP3L |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RANBP3L |
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RelatedDrugs for RANBP3L |
| 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 RANBP3L |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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