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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 RBM27 |
 Gene summary |
| Gene information | Gene symbol | RBM27 | Gene ID | 54439 |
| Gene name | RNA binding motif protein 27 | |
| Synonyms | ARRS1|Psc1|ZC3H18|ZC3H20 | |
| Cytomap | 5q32 | |
| Type of gene | protein-coding | |
| Description | RNA-binding protein 27acidic rich RS domain containing 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9P2N5 | |
| Context | PubMed: RBM27 [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 RBM27 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 RBM27 |
| 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 RBM27 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_438428 | 5 | 145583162:145583387:145598547:145598666:145602965:145603090 | 145598547:145598666 | ENSG00000091009.6 | ENST00000265271.5 |
| exon_skip_438429 | 5 | 145598547:145598666:145602965:145603090:145608508:145608600 | 145602965:145603090 | ENSG00000091009.6 | ENST00000506502.1,ENST00000265271.5 |
| exon_skip_438432 | 5 | 145609279:145609473:145610219:145610480:145613012:145613306 | 145610219:145610480 | ENSG00000091009.6 | ENST00000506502.1,ENST00000265271.5 |
| exon_skip_438433 | 5 | 145616860:145616995:145631273:145631438:145634505:145634655 | 145631273:145631438 | ENSG00000091009.6 | ENST00000265271.5 |
| exon_skip_438435 | 5 | 145616860:145616995:145634505:145634655:145638011:145638156 | 145634505:145634655 | ENSG00000091009.6 | ENST00000506502.1 |
| exon_skip_438436 | 5 | 145631273:145631438:145634505:145634655:145638011:145638156 | 145634505:145634655 | ENSG00000091009.6 | ENST00000265271.5 |
| exon_skip_438437 | 5 | 145634505:145634655:145638011:145638156:145640307:145640461 | 145638011:145638156 | ENSG00000091009.6 | ENST00000506502.1,ENST00000265271.5 |
| exon_skip_438438 | 5 | 145640307:145640461:145641072:145641369:145643053:145643082 | 145641072:145641369 | ENSG00000091009.6 | ENST00000506502.1,ENST00000265271.5 |
| exon_skip_438439 | 5 | 145641072:145641369:145643053:145643194:145647211:145647331 | 145643053:145643194 | ENSG00000091009.6 | ENST00000506502.1,ENST00000265271.5 |
| exon_skip_438440 | 5 | 145643053:145643194:145647211:145647331:145648769:145648844 | 145647211:145647331 | ENSG00000091009.6 | ENST00000506502.1,ENST00000265271.5 |
| exon_skip_438441 | 5 | 145650516:145650621:145651045:145651237:145664184:145664295 | 145651045:145651237 | ENSG00000091009.6 | ENST00000265271.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RBM27 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_438428 | 5 | 145583162:145583387:145598547:145598666:145602965:145603090 | 145598547:145598666 | ENSG00000091009.6 | ENST00000265271.5 |
| exon_skip_438429 | 5 | 145598547:145598666:145602965:145603090:145608508:145608600 | 145602965:145603090 | ENSG00000091009.6 | ENST00000506502.1,ENST00000265271.5 |
| exon_skip_438432 | 5 | 145609279:145609473:145610219:145610480:145613012:145613306 | 145610219:145610480 | ENSG00000091009.6 | ENST00000506502.1,ENST00000265271.5 |
| exon_skip_438433 | 5 | 145616860:145616995:145631273:145631438:145634505:145634655 | 145631273:145631438 | ENSG00000091009.6 | ENST00000265271.5 |
| exon_skip_438435 | 5 | 145616860:145616995:145634505:145634655:145638011:145638156 | 145634505:145634655 | ENSG00000091009.6 | ENST00000506502.1 |
| exon_skip_438436 | 5 | 145631273:145631438:145634505:145634655:145638011:145638156 | 145634505:145634655 | ENSG00000091009.6 | ENST00000265271.5 |
| exon_skip_438437 | 5 | 145634505:145634655:145638011:145638156:145640307:145640461 | 145638011:145638156 | ENSG00000091009.6 | ENST00000506502.1,ENST00000265271.5 |
| exon_skip_438438 | 5 | 145640307:145640461:145641072:145641369:145643053:145643082 | 145641072:145641369 | ENSG00000091009.6 | ENST00000506502.1,ENST00000265271.5 |
| exon_skip_438439 | 5 | 145641072:145641369:145643053:145643194:145647211:145647331 | 145643053:145643194 | ENSG00000091009.6 | ENST00000506502.1,ENST00000265271.5 |
| exon_skip_438440 | 5 | 145643053:145643194:145647211:145647331:145648769:145648844 | 145647211:145647331 | ENSG00000091009.6 | ENST00000506502.1,ENST00000265271.5 |
| exon_skip_438441 | 5 | 145650516:145650621:145651045:145651237:145664184:145664295 | 145651045:145651237 | ENSG00000091009.6 | ENST00000265271.5 |
| 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 RBM27 |
| 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 |
| ENST00000265271 | 145598547 | 145598666 | Frame-shift |
| ENST00000265271 | 145602965 | 145603090 | Frame-shift |
| ENST00000265271 | 145638011 | 145638156 | Frame-shift |
| ENST00000265271 | 145610219 | 145610480 | In-frame |
| ENST00000265271 | 145631273 | 145631438 | In-frame |
| ENST00000265271 | 145634505 | 145634655 | In-frame |
| ENST00000265271 | 145641072 | 145641369 | In-frame |
| ENST00000265271 | 145643053 | 145643194 | In-frame |
| ENST00000265271 | 145647211 | 145647331 | In-frame |
| ENST00000265271 | 145651045 | 145651237 | 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 |
| ENST00000265271 | 145598547 | 145598666 | Frame-shift |
| ENST00000265271 | 145602965 | 145603090 | Frame-shift |
| ENST00000265271 | 145638011 | 145638156 | Frame-shift |
| ENST00000265271 | 145610219 | 145610480 | In-frame |
| ENST00000265271 | 145631273 | 145631438 | In-frame |
| ENST00000265271 | 145634505 | 145634655 | In-frame |
| ENST00000265271 | 145641072 | 145641369 | In-frame |
| ENST00000265271 | 145643053 | 145643194 | In-frame |
| ENST00000265271 | 145647211 | 145647331 | In-frame |
| ENST00000265271 | 145651045 | 145651237 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RBM27 |
| 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 |
| ENST00000265271 | 6468 | 1060 | 145610219 | 145610480 | 756 | 1016 | 196 | 283 |
| ENST00000265271 | 6468 | 1060 | 145631273 | 145631438 | 1446 | 1610 | 426 | 481 |
| ENST00000265271 | 6468 | 1060 | 145634505 | 145634655 | 1611 | 1760 | 481 | 531 |
| ENST00000265271 | 6468 | 1060 | 145641072 | 145641369 | 2060 | 2356 | 631 | 730 |
| ENST00000265271 | 6468 | 1060 | 145643053 | 145643194 | 2357 | 2497 | 730 | 777 |
| ENST00000265271 | 6468 | 1060 | 145647211 | 145647331 | 2498 | 2617 | 777 | 817 |
| ENST00000265271 | 6468 | 1060 | 145651045 | 145651237 | 2963 | 3154 | 932 | 996 |
| 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 |
| ENST00000265271 | 6468 | 1060 | 145610219 | 145610480 | 756 | 1016 | 196 | 283 |
| ENST00000265271 | 6468 | 1060 | 145631273 | 145631438 | 1446 | 1610 | 426 | 481 |
| ENST00000265271 | 6468 | 1060 | 145634505 | 145634655 | 1611 | 1760 | 481 | 531 |
| ENST00000265271 | 6468 | 1060 | 145641072 | 145641369 | 2060 | 2356 | 631 | 730 |
| ENST00000265271 | 6468 | 1060 | 145643053 | 145643194 | 2357 | 2497 | 730 | 777 |
| ENST00000265271 | 6468 | 1060 | 145647211 | 145647331 | 2498 | 2617 | 777 | 817 |
| ENST00000265271 | 6468 | 1060 | 145651045 | 145651237 | 2963 | 3154 | 932 | 996 |
| 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 |
| Q9P2N5 | 196 | 283 | 1 | 1060 | Chain | ID=PRO_0000273044;Note=RNA-binding protein 27 |
| Q9P2N5 | 196 | 283 | 131 | 201 | Compositional bias | Note=Arg-rich |
| Q9P2N5 | 196 | 283 | 273 | 301 | Zinc finger | Note=C3H1-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
| Q9P2N5 | 426 | 481 | 1 | 1060 | Chain | ID=PRO_0000273044;Note=RNA-binding protein 27 |
| Q9P2N5 | 426 | 481 | 447 | 447 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMI |
| Q9P2N5 | 426 | 481 | 455 | 455 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
| Q9P2N5 | 481 | 531 | 1 | 1060 | Chain | ID=PRO_0000273044;Note=RNA-binding protein 27 |
| Q9P2N5 | 631 | 730 | 1 | 1060 | Chain | ID=PRO_0000273044;Note=RNA-binding protein 27 |
| Q9P2N5 | 631 | 730 | 678 | 718 | Compositional bias | Note=Gln-rich |
| Q9P2N5 | 631 | 730 | 600 | 674 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q9P2N5 | 730 | 777 | 1 | 1060 | Chain | ID=PRO_0000273044;Note=RNA-binding protein 27 |
| Q9P2N5 | 777 | 817 | 1 | 1060 | Chain | ID=PRO_0000273044;Note=RNA-binding protein 27 |
| Q9P2N5 | 777 | 817 | 809 | 886 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9P2N5 | 932 | 996 | 1 | 1060 | Chain | ID=PRO_0000273044;Note=RNA-binding protein 27 |
| 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 |
| Q9P2N5 | 196 | 283 | 1 | 1060 | Chain | ID=PRO_0000273044;Note=RNA-binding protein 27 |
| Q9P2N5 | 196 | 283 | 131 | 201 | Compositional bias | Note=Arg-rich |
| Q9P2N5 | 196 | 283 | 273 | 301 | Zinc finger | Note=C3H1-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00723 |
| Q9P2N5 | 426 | 481 | 1 | 1060 | Chain | ID=PRO_0000273044;Note=RNA-binding protein 27 |
| Q9P2N5 | 426 | 481 | 447 | 447 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMI |
| Q9P2N5 | 426 | 481 | 455 | 455 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
| Q9P2N5 | 481 | 531 | 1 | 1060 | Chain | ID=PRO_0000273044;Note=RNA-binding protein 27 |
| Q9P2N5 | 631 | 730 | 1 | 1060 | Chain | ID=PRO_0000273044;Note=RNA-binding protein 27 |
| Q9P2N5 | 631 | 730 | 678 | 718 | Compositional bias | Note=Gln-rich |
| Q9P2N5 | 631 | 730 | 600 | 674 | Domain | Note=RRM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00176 |
| Q9P2N5 | 730 | 777 | 1 | 1060 | Chain | ID=PRO_0000273044;Note=RNA-binding protein 27 |
| Q9P2N5 | 777 | 817 | 1 | 1060 | Chain | ID=PRO_0000273044;Note=RNA-binding protein 27 |
| Q9P2N5 | 777 | 817 | 809 | 886 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9P2N5 | 932 | 996 | 1 | 1060 | Chain | ID=PRO_0000273044;Note=RNA-binding protein 27 |
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SNVs in the skipped exons for RBM27 |
| - 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. |
RBM27_SKCM_exon_skip_438439_psi_boxplot.png |
| - 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-A39Y-01 | exon_skip_438432 | 145610220 | 145610480 | 145610299 | 145610299 | Frame_Shift_Del | A | - | p.P223fs |
| LGG | TCGA-S9-A7J3-01 | exon_skip_438432 | 145610220 | 145610480 | 145610427 | 145610427 | Frame_Shift_Del | C | - | p.S266fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_438437 | 145638012 | 145638156 | 145638059 | 145638059 | Frame_Shift_Del | A | - | p.N548fs |
| BLCA | TCGA-BT-A20V-01 | exon_skip_438440 | 145647212 | 145647331 | 145647320 | 145647320 | Frame_Shift_Del | A | - | p.K816fs |
| COAD | TCGA-AA-3663-01 | exon_skip_438440 | 145647212 | 145647331 | 145647320 | 145647321 | Frame_Shift_Del | AA | - | p.813_814del |
| COAD | TCGA-AZ-4615-01 | exon_skip_438440 | 145647212 | 145647331 | 145647320 | 145647321 | Frame_Shift_Del | AA | - | p.813_814del |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_438440 | 145647212 | 145647331 | 145647320 | 145647320 | Frame_Shift_Del | A | - | p.K816fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_438440 | 145647212 | 145647331 | 145647320 | 145647321 | Frame_Shift_Del | AA | - | p.813_814del |
| STAD | TCGA-CG-4306-01 | exon_skip_438440 | 145647212 | 145647331 | 145647320 | 145647321 | Frame_Shift_Del | AA | - | p.813_814del |
| STAD | TCGA-CG-5721-01 | exon_skip_438440 | 145647212 | 145647331 | 145647320 | 145647321 | Frame_Shift_Del | AA | - | p.813_814del |
| UCEC | TCGA-AP-A05N-01 | exon_skip_438440 | 145647212 | 145647331 | 145647320 | 145647320 | Frame_Shift_Del | A | - | p.K814fs |
| UCEC | TCGA-AP-A0LP-01 | exon_skip_438440 | 145647212 | 145647331 | 145647320 | 145647320 | Frame_Shift_Del | A | - | p.K814fs |
| UCEC | TCGA-AX-A05S-01 | exon_skip_438440 | 145647212 | 145647331 | 145647320 | 145647320 | Frame_Shift_Del | A | - | p.K814fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_438440 | 145647212 | 145647331 | 145647320 | 145647320 | Frame_Shift_Del | A | - | p.K814fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_438440 | 145647212 | 145647331 | 145647320 | 145647320 | Frame_Shift_Del | A | - | p.K814fs |
| ESCA | TCGA-R6-A6XQ-01 | exon_skip_438441 | 145651046 | 145651237 | 145651199 | 145651199 | Frame_Shift_Del | A | - | p.I984fs |
| ESCA | TCGA-KH-A6WC-01 | exon_skip_438440 | 145647212 | 145647331 | 145647319 | 145647320 | Frame_Shift_Ins | - | A | p.Q816fs |
| ESCA | TCGA-L5-A4OU-01 | exon_skip_438440 | 145647212 | 145647331 | 145647319 | 145647320 | Frame_Shift_Ins | - | A | p.LK813fs |
| ESCA | TCGA-L5-A4OU-01 | exon_skip_438440 | 145647212 | 145647331 | 145647319 | 145647320 | Frame_Shift_Ins | - | A | p.Q816fs |
| PAAD | TCGA-HZ-7926-01 | exon_skip_438440 | 145647212 | 145647331 | 145647319 | 145647320 | Frame_Shift_Ins | - | A | p.LK813fs |
| PRAD | TCGA-EJ-7330-01 | exon_skip_438440 | 145647212 | 145647331 | 145647319 | 145647320 | Frame_Shift_Ins | - | A | p.LK813fs |
| STAD | TCGA-CG-4477-01 | exon_skip_438441 | 145651046 | 145651237 | 145651186 | 145651187 | Frame_Shift_Ins | - | GTTGGAG | p.T979fs |
| STAD | TCGA-CG-4477-01 | exon_skip_438441 | 145651046 | 145651237 | 145651187 | 145651188 | Frame_Shift_Ins | - | GTTGGAG | p.T979fs |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_438428 | 145598548 | 145598666 | 145598618 | 145598618 | Nonsense_Mutation | G | T | p.E44* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_438429 | 145602966 | 145603090 | 145603076 | 145603076 | Nonsense_Mutation | G | T | p.E97* |
| ESCA | TCGA-2H-A9GR-01 | exon_skip_438432 | 145610220 | 145610480 | 145610441 | 145610441 | Nonsense_Mutation | C | T | p.R271* |
| ESCA | TCGA-2H-A9GR-01 | exon_skip_438432 | 145610220 | 145610480 | 145610441 | 145610441 | Nonsense_Mutation | C | T | p.R271X |
| UCEC | TCGA-BS-A0U8-01 | exon_skip_438432 | 145610220 | 145610480 | 145610441 | 145610441 | Nonsense_Mutation | C | T | p.R271* |
| SKCM | TCGA-FR-A8YC-06 | exon_skip_438438 | 145641073 | 145641369 | 145641172 | 145641172 | Nonsense_Mutation | C | T | p.R665* |
| SKCM | TCGA-BF-AAP1-01 | exon_skip_438438 | 145641073 | 145641369 | 145641181 | 145641181 | Nonsense_Mutation | C | T | p.R668* |
| PRAD | TCGA-G9-6363-01 | exon_skip_438438 | 145641073 | 145641369 | 145641192 | 145641192 | Nonsense_Mutation | G | A | p.W671* |
| BLCA | TCGA-CF-A9FF-01 | exon_skip_438441 | 145651046 | 145651237 | 145651076 | 145651076 | Nonsense_Mutation | C | T | p.R943* |
| CESC | TCGA-C5-A7CJ-01 | exon_skip_438441 | 145651046 | 145651237 | 145651103 | 145651103 | Nonsense_Mutation | C | T | p.R952* |
| UCEC | TCGA-D1-A16X-01 | exon_skip_438441 | 145651046 | 145651237 | 145651214 | 145651214 | Nonsense_Mutation | G | T | p.E989* |
| CESC | TCGA-FU-A57G-01 | exon_skip_438429 | 145602966 | 145603090 | 145603092 | 145603092 | Splice_Site | T | A | e3+2 |
| UCEC | TCGA-B5-A11R-01 | exon_skip_438432 | 145610220 | 145610480 | 145610219 | 145610219 | Splice_Site | G | A | e6-1 |
| LIHC | TCGA-DD-AADE-01 | exon_skip_438432 | 145610220 | 145610480 | 145610481 | 145610481 | Splice_Site | G | A | . |
| SKCM | TCGA-EE-A2GO-06 | exon_skip_438439 | 145643054 | 145643194 | 145643195 | 145643195 | Splice_Site | G | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EE-A2GO-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_438439 | |
| Skipped exon start: 145643054 | |
| Skipped exon end: 145643194 | |
| Mutation start: 145643195 | |
| Mutation end: 145643195 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_438439_SKCM_TCGA-EE-A2GO-06.png | |
| - 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 |
| SW1710_URINARY_TRACT | 145610220 | 145610480 | 145610379 | 145610379 | Frame_Shift_Del | A | - | p.E250fs |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145647212 | 145647331 | 145647215 | 145647215 | Frame_Shift_Del | T | - | p.F779fs |
| LNCAPCLONEFGC_PROSTATE | 145647212 | 145647331 | 145647320 | 145647321 | Frame_Shift_Del | AA | - | p.K816fs |
| CW2_LARGE_INTESTINE | 145647212 | 145647331 | 145647320 | 145647321 | Frame_Shift_Del | AA | - | p.K816fs |
| SNU761_LIVER | 145598548 | 145598666 | 145598554 | 145598554 | Missense_Mutation | T | A | p.D22E |
| NCIH1838_LUNG | 145598548 | 145598666 | 145598642 | 145598642 | Missense_Mutation | C | A | p.Q52K |
| SNUC4_LARGE_INTESTINE | 145598548 | 145598666 | 145598645 | 145598645 | Missense_Mutation | C | T | p.L53F |
| MKN45_STOMACH | 145602966 | 145603090 | 145602992 | 145602992 | Missense_Mutation | T | C | p.F69L |
| HEC265_ENDOMETRIUM | 145602966 | 145603090 | 145603026 | 145603026 | Missense_Mutation | T | C | p.L80P |
| DOV13_OVARY | 145610220 | 145610480 | 145610294 | 145610294 | Missense_Mutation | C | G | p.P222A |
| HS294T_SKIN | 145610220 | 145610480 | 145610294 | 145610294 | Missense_Mutation | C | G | p.P222A |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145610220 | 145610480 | 145610301 | 145610301 | Missense_Mutation | A | G | p.N224S |
| NCIH2347_LUNG | 145610220 | 145610480 | 145610304 | 145610304 | Missense_Mutation | C | G | p.S225C |
| MCC13_SKIN | 145610220 | 145610480 | 145610340 | 145610340 | Missense_Mutation | C | T | p.P237L |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145610220 | 145610480 | 145610448 | 145610448 | Missense_Mutation | T | C | p.L273P |
| SNU520_STOMACH | 145631274 | 145631438 | 145631310 | 145631310 | Missense_Mutation | C | T | p.A439V |
| HCC70_BREAST | 145631274 | 145631438 | 145631319 | 145631319 | Missense_Mutation | G | A | p.R442Q |
| MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145631274 | 145631438 | 145631334 | 145631334 | Missense_Mutation | C | T | p.T447I |
| MEL202_EYE | 145631274 | 145631438 | 145631388 | 145631388 | Missense_Mutation | C | T | p.S465F |
| L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145634506 | 145634655 | 145634554 | 145634554 | Missense_Mutation | G | C | p.S498T |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145634506 | 145634655 | 145634587 | 145634587 | Missense_Mutation | C | T | p.S509L |
| HCC1171_LUNG | 145634506 | 145634655 | 145634598 | 145634598 | Missense_Mutation | A | T | p.T513S |
| MEWO_SKIN | 145638012 | 145638156 | 145638054 | 145638054 | Missense_Mutation | C | T | p.S546L |
| JHH7_LIVER | 145638012 | 145638156 | 145638117 | 145638117 | Missense_Mutation | G | A | p.G567D |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145641073 | 145641369 | 145641112 | 145641112 | Missense_Mutation | T | C | p.Y645H |
| CW2_LARGE_INTESTINE | 145641073 | 145641369 | 145641263 | 145641263 | Missense_Mutation | T | G | p.L695R |
| BHY_UPPER_AERODIGESTIVE_TRACT | 145641073 | 145641369 | 145641269 | 145641269 | Missense_Mutation | A | C | p.H697P |
| DOK_UPPER_AERODIGESTIVE_TRACT | 145641073 | 145641369 | 145641269 | 145641269 | Missense_Mutation | A | C | p.H697P |
| KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145641073 | 145641369 | 145641269 | 145641269 | Missense_Mutation | A | C | p.H697P |
| MET2B | 145641073 | 145641369 | 145641269 | 145641269 | Missense_Mutation | A | C | p.H697P |
| SU8686_PANCREAS | 145643054 | 145643194 | 145643079 | 145643079 | Missense_Mutation | G | A | p.G739D |
| LNCAPCLONEFGC_PROSTATE | 145643054 | 145643194 | 145643147 | 145643147 | Missense_Mutation | G | A | p.A762T |
| NCIH1651_LUNG | 145643054 | 145643194 | 145643189 | 145643189 | Missense_Mutation | T | C | p.C776R |
| HEC1A_ENDOMETRIUM | 145647212 | 145647331 | 145647275 | 145647275 | Missense_Mutation | A | G | p.K799E |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 145651046 | 145651237 | 145651196 | 145651196 | Missense_Mutation | T | C | p.F983L |
| HCC515_LUNG | 145651046 | 145651237 | 145651217 | 145651217 | Missense_Mutation | G | T | p.D990Y |
| TE441T_SOFT_TISSUE | 145651046 | 145651237 | 145651223 | 145651223 | Missense_Mutation | C | A | p.L992I |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 145602966 | 145603090 | 145602967 | 145602967 | Splice_Site | A | G | p.E60E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RBM27 |
| 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_438439 | 5 | 145641072:145641369:145643053:145643194:145647211:145647331 | 145643053:145643194 | ENST00000506502.1,ENST00000265271.5 | LGG | rs7729098 | chr5:145643048 | G/A | 1.14e-03 |
| exon_skip_438439 | 5 | 145641072:145641369:145643053:145643194:145647211:145647331 | 145643053:145643194 | ENST00000506502.1,ENST00000265271.5 | LGG | rs7729098 | chr5:145643048 | G/A | 1.14e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBM27 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBM27 |
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RelatedDrugs for RBM27 |
| 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 RBM27 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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