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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 RBMS2 |
 Gene summary |
| Gene information | Gene symbol | RBMS2 | Gene ID | 5939 |
| Gene name | RNA binding motif single stranded interacting protein 2 | |
| Synonyms | SCR3 | |
| Cytomap | 12q13.3 | |
| Type of gene | protein-coding | |
| Description | RNA-binding motif, single-stranded-interacting protein 2suppressor of CDC2 with RNA-binding motif 3 | |
| Modification date | 20180523 | |
| UniProtAcc | Q15434 | |
| Context | PubMed: RBMS2 [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 RBMS2 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 RBMS2 |
| 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 RBMS2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_84234 | 12 | 56915782:56915873:56933469:56933548:56956200:56956367 | 56933469:56933548 | ENSG00000076067.7 | ENST00000551369.1 |
| exon_skip_84238 | 12 | 56915782:56915873:56956200:56956367:56962758:56962817 | 56956200:56956367 | ENSG00000076067.7 | ENST00000552247.2 |
| exon_skip_84239 | 12 | 56915782:56915873:56956200:56956367:56963682:56963774 | 56956200:56956367 | ENSG00000076067.7 | ENST00000552916.1 |
| exon_skip_84245 | 12 | 56915782:56915873:56962758:56962817:56963682:56963774 | 56962758:56962817 | ENSG00000076067.7 | ENST00000550726.1,ENST00000542360.1 |
| exon_skip_84248 | 12 | 56956200:56956367:56962758:56962817:56963682:56963774 | 56962758:56962817 | ENSG00000076067.7 | ENST00000262031.5,ENST00000552247.2,ENST00000551369.1,ENST00000549945.1 |
| exon_skip_84249 | 12 | 56956200:56956367:56963682:56963774:56965481:56965500 | 56963682:56963774 | ENSG00000076067.7 | ENST00000552916.1 |
| exon_skip_84260 | 12 | 56965481:56965639:56974967:56975047:56975182:56975292 | 56974967:56975047 | ENSG00000076067.7 | ENST00000262031.5,ENST00000550726.1,ENST00000552247.2,ENST00000552228.1 |
| exon_skip_84264 | 12 | 56975182:56975292:56975616:56975663:56975842:56975936 | 56975616:56975663 | ENSG00000076067.7 | ENST00000262031.5,ENST00000552916.1,ENST00000550726.1,ENST00000552247.2,ENST00000542360.1 |
| exon_skip_84267 | 12 | 56975616:56975663:56975842:56975936:56980632:56980710 | 56975842:56975936 | ENSG00000076067.7 | ENST00000262031.5,ENST00000552916.1,ENST00000550726.1,ENST00000542360.1 |
| exon_skip_84270 | 12 | 56982077:56982158:56982715:56982802:56982923:56983287 | 56982715:56982802 | ENSG00000076067.7 | ENST00000262031.5,ENST00000552916.1,ENST00000550726.1,ENST00000552247.2,ENST00000542360.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RBMS2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_84234 | 12 | 56915782:56915873:56933469:56933548:56956200:56956367 | 56933469:56933548 | ENSG00000076067.7 | ENST00000551369.1 |
| exon_skip_84238 | 12 | 56915782:56915873:56956200:56956367:56962758:56962817 | 56956200:56956367 | ENSG00000076067.7 | ENST00000552247.2 |
| exon_skip_84239 | 12 | 56915782:56915873:56956200:56956367:56963682:56963774 | 56956200:56956367 | ENSG00000076067.7 | ENST00000552916.1 |
| exon_skip_84245 | 12 | 56915782:56915873:56962758:56962817:56963682:56963774 | 56962758:56962817 | ENSG00000076067.7 | ENST00000550726.1,ENST00000542360.1 |
| exon_skip_84248 | 12 | 56956200:56956367:56962758:56962817:56963682:56963774 | 56962758:56962817 | ENSG00000076067.7 | ENST00000262031.5,ENST00000552247.2,ENST00000551369.1,ENST00000549945.1 |
| exon_skip_84249 | 12 | 56956200:56956367:56963682:56963774:56965481:56965500 | 56963682:56963774 | ENSG00000076067.7 | ENST00000552916.1 |
| exon_skip_84260 | 12 | 56965481:56965639:56974967:56975047:56975182:56975292 | 56974967:56975047 | ENSG00000076067.7 | ENST00000262031.5,ENST00000552247.2,ENST00000550726.1,ENST00000552228.1 |
| exon_skip_84264 | 12 | 56975182:56975292:56975616:56975663:56975842:56975936 | 56975616:56975663 | ENSG00000076067.7 | ENST00000262031.5,ENST00000552247.2,ENST00000552916.1,ENST00000550726.1,ENST00000542360.1 |
| exon_skip_84267 | 12 | 56975616:56975663:56975842:56975936:56980632:56980710 | 56975842:56975936 | ENSG00000076067.7 | ENST00000262031.5,ENST00000552916.1,ENST00000550726.1,ENST00000542360.1 |
| exon_skip_84270 | 12 | 56982077:56982158:56982715:56982802:56982923:56983287 | 56982715:56982802 | ENSG00000076067.7 | ENST00000262031.5,ENST00000552247.2,ENST00000552916.1,ENST00000550726.1,ENST00000542360.1 |
| 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 RBMS2 |
| 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 |
| ENST00000262031 | 56982715 | 56982802 | 3UTR-3CDS |
| ENST00000262031 | 56962758 | 56962817 | Frame-shift |
| ENST00000262031 | 56974967 | 56975047 | Frame-shift |
| ENST00000262031 | 56975616 | 56975663 | Frame-shift |
| ENST00000262031 | 56975842 | 56975936 | 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 |
| ENST00000262031 | 56982715 | 56982802 | 3UTR-3CDS |
| ENST00000262031 | 56962758 | 56962817 | Frame-shift |
| ENST00000262031 | 56974967 | 56975047 | Frame-shift |
| ENST00000262031 | 56975616 | 56975663 | Frame-shift |
| ENST00000262031 | 56975842 | 56975936 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RBMS2 |
| 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 RBMS2 |
| - 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-A39Y-01 | exon_skip_84267 | 56975843 | 56975936 | 56975854 | 56975854 | Frame_Shift_Del | C | - | p.A264fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_84267 | 56975843 | 56975936 | 56975854 | 56975854 | Frame_Shift_Del | C | - | p.A264fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_84270 | 56982716 | 56982802 | 56982778 | 56982778 | Frame_Shift_Del | T | - | p.S402fs |
| KIRP | TCGA-SX-A7SR-01 | exon_skip_84260 | 56974968 | 56975047 | 56975006 | 56975007 | Frame_Shift_Ins | - | T | p.H194fs |
| HNSC | TCGA-BB-8601-01 | exon_skip_84267 | 56975843 | 56975936 | 56975859 | 56975860 | Frame_Shift_Ins | - | A | p.*266fs |
| ESCA | TCGA-L5-A8NN-01 | exon_skip_84260 | 56974968 | 56975047 | 56974967 | 56974967 | Splice_Site | G | T | . |
| ESCA | TCGA-L5-A8NN-01 | exon_skip_84260 | 56974968 | 56975047 | 56974967 | 56974967 | Splice_Site | G | T | e6-1 |
| - 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 |
| HEC59_ENDOMETRIUM | 56956201 | 56956367 | 56956283 | 56956283 | Missense_Mutation | A | G | p.N50S |
| LN319_CENTRAL_NERVOUS_SYSTEM | 56956201 | 56956367 | 56956314 | 56956314 | Missense_Mutation | C | G | p.I60M |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56962759 | 56962817 | 56962803 | 56962803 | Missense_Mutation | C | T | p.T93I |
| SNU175_LARGE_INTESTINE | 56963683 | 56963774 | 56963765 | 56963765 | Missense_Mutation | G | T | p.Q125H |
| SARC9371_BONE | 56974968 | 56975047 | 56975036 | 56975036 | Missense_Mutation | C | A | p.P204H |
| DV90_LUNG | 56975843 | 56975936 | 56975850 | 56975850 | Missense_Mutation | C | T | p.P263S |
| HEC251_ENDOMETRIUM | 56975843 | 56975936 | 56975929 | 56975929 | Missense_Mutation | C | T | p.S289L |
| MERO41_LUNG | 56982716 | 56982802 | 56982789 | 56982789 | Missense_Mutation | A | G | p.N406S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RBMS2 |
| 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_84239 | 12 | 56915782:56915873:56956200:56956367:56963682:56963774 | 56956200:56956367 | ENST00000552916.1 | THCA | rs3759091 | chr12:56956213 | A/G | 2.10e-04 |
| exon_skip_84238 | 12 | 56915782:56915873:56956200:56956367:56962758:56962817 | 56956200:56956367 | ENST00000552247.2 | THCA | rs3759091 | chr12:56956213 | A/G | 2.10e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBMS2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBMS2 |
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RelatedDrugs for RBMS2 |
| 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 RBMS2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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