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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 RBM17 |
 Gene summary |
| Gene information | Gene symbol | RBM17 | Gene ID | 84991 |
| Gene name | RNA binding motif protein 17 | |
| Synonyms | SPF45 | |
| Cytomap | 10p15.1 | |
| Type of gene | protein-coding | |
| Description | splicing factor 4545 kDa-splicing factorsplicing factor 45kDa | |
| Modification date | 20180523 | |
| UniProtAcc | Q96I25 | |
| Context | PubMed: RBM17 [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 RBM17 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 RBM17 |
| 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 RBM17 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_39423 | 10 | 6131033:6131156:6139010:6139151:6143233:6143350 | 6139010:6139151 | ENSG00000134453.11 | ENST00000432931.1 |
| exon_skip_39426 | 10 | 6143233:6143350:6146893:6147060:6148103:6148201 | 6146893:6147060 | ENSG00000134453.11 | ENST00000418631.1,ENST00000437845.2,ENST00000446108.1,ENST00000379888.4 |
| exon_skip_39435 | 10 | 6154172:6154324:6155470:6155544:6156011:6156110 | 6155470:6155544 | ENSG00000134453.11 | ENST00000446108.1,ENST00000379888.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RBM17 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_39423 | 10 | 6131033:6131156:6139010:6139151:6143233:6143350 | 6139010:6139151 | ENSG00000134453.11 | ENST00000432931.1 |
| exon_skip_39426 | 10 | 6143233:6143350:6146893:6147060:6148103:6148201 | 6146893:6147060 | ENSG00000134453.11 | ENST00000379888.4,ENST00000437845.2,ENST00000446108.1,ENST00000418631.1 |
| exon_skip_39435 | 10 | 6154172:6154324:6155470:6155544:6156011:6156110 | 6155470:6155544 | ENSG00000134453.11 | ENST00000379888.4,ENST00000446108.1 |
| 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 RBM17 |
| 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 |
| ENST00000379888 | 6146893 | 6147060 | Frame-shift |
| ENST00000446108 | 6146893 | 6147060 | Frame-shift |
| ENST00000379888 | 6155470 | 6155544 | Frame-shift |
| ENST00000446108 | 6155470 | 6155544 | 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 |
| ENST00000379888 | 6146893 | 6147060 | Frame-shift |
| ENST00000446108 | 6146893 | 6147060 | Frame-shift |
| ENST00000379888 | 6155470 | 6155544 | Frame-shift |
| ENST00000446108 | 6155470 | 6155544 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RBM17 |
| 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 RBM17 |
| - 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-A3A0-01 | exon_skip_39423 | 6139011 | 6139151 | 6139070 | 6139070 | Frame_Shift_Del | A | - | p.S14fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_39423 | 6139011 | 6139151 | 6139070 | 6139070 | Frame_Shift_Del | A | - | p.S14fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_39423 | 6139011 | 6139151 | 6139070 | 6139070 | Frame_Shift_Del | A | - | p.S14X |
| BLCA | TCGA-K4-A3WV-01 | exon_skip_39423 | 6139011 | 6139151 | 6139098 | 6139098 | Frame_Shift_Del | A | - | p.K24fs |
| CESC | TCGA-EK-A3GK-01 | exon_skip_39423 | 6139011 | 6139151 | 6139113 | 6139113 | Nonsense_Mutation | C | T | p.Q29* |
| HNSC | TCGA-CN-4740-01 | exon_skip_39423 | 6139011 | 6139151 | 6139143 | 6139143 | Nonsense_Mutation | C | T | p.Q39* |
| LUSC | TCGA-39-5031-01 | exon_skip_39435 | 6155471 | 6155544 | 6155486 | 6155486 | Nonsense_Mutation | C | G | p.S291* |
| BLCA | TCGA-ZF-AA4X-01 | exon_skip_39435 | 6155471 | 6155544 | 6155492 | 6155492 | Nonsense_Mutation | C | G | p.S293* |
| COAD | TCGA-G4-6317-01 | exon_skip_39435 | 6155471 | 6155544 | 6155546 | 6155546 | Splice_Site | T | C | . |
| - 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 |
| NCIH650_LUNG | 6139011 | 6139151 | 6139051 | 6139051 | Missense_Mutation | G | T | p.G8V |
| UACC893_BREAST | 6139011 | 6139151 | 6139075 | 6139075 | Missense_Mutation | C | G | p.T16R |
| CAL54_KIDNEY | 6146894 | 6147060 | 6146960 | 6146960 | Missense_Mutation | A | G | p.M103V |
| SW1990_PANCREAS | 6155471 | 6155544 | 6155525 | 6155525 | Missense_Mutation | C | G | p.T304S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RBM17 |
| 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 RBM17 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBM17 |
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RelatedDrugs for RBM17 |
| 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 RBM17 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RBM17 | C0087012 | Ataxia, Spinocerebellar | 1 | CTD_human |
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